KEGG   Homo sapiens (human): 779
Entry
779               CDS       T01001                                 
Symbol
CACNA1S, CACNL1A3, CCHL1A3, CMYO18, CMYP18, Cav1.1, DHPRM, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 S
  KO
K04857  voltage-dependent calcium channel L type alpha-1S
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01282  Regulation of CAV1.1
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00215  Periodic paralysis
H00746  Hypokalemic periodic paralysis
H00747  Thyrotoxic hypokalemic periodic paralysis
H01810  Congenital myopathy
H02646  Malignant hyperthermia
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Pinaverium: D07094
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    779 (CACNA1S)
   04020 Calcium signaling pathway
    779 (CACNA1S)
   04024 cAMP signaling pathway
    779 (CACNA1S)
   04022 cGMP-PKG signaling pathway
    779 (CACNA1S)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    779 (CACNA1S)
   04929 GnRH secretion
    779 (CACNA1S)
   04912 GnRH signaling pathway
    779 (CACNA1S)
   04921 Oxytocin signaling pathway
    779 (CACNA1S)
   04935 Growth hormone synthesis, secretion and action
    779 (CACNA1S)
   04924 Renin secretion
    779 (CACNA1S)
   04925 Aldosterone synthesis and secretion
    779 (CACNA1S)
   04927 Cortisol synthesis and secretion
    779 (CACNA1S)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    779 (CACNA1S)
   04261 Adrenergic signaling in cardiomyocytes
    779 (CACNA1S)
   04270 Vascular smooth muscle contraction
    779 (CACNA1S)
  09156 Nervous system
   04727 GABAergic synapse
    779 (CACNA1S)
   04725 Cholinergic synapse
    779 (CACNA1S)
   04726 Serotonergic synapse
    779 (CACNA1S)
   04723 Retrograde endocannabinoid signaling
    779 (CACNA1S)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    779 (CACNA1S)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    779 (CACNA1S)
   05020 Prion disease
    779 (CACNA1S)
   05022 Pathways of neurodegeneration - multiple diseases
    779 (CACNA1S)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    779 (CACNA1S)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    779 (CACNA1S)
   05414 Dilated cardiomyopathy
    779 (CACNA1S)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    779 (CACNA1S)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    779 (CACNA1S)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   779 (CACNA1S)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 779
NCBI-ProteinID: NP_000060
OMIM: 114208
HGNC: 1397
Ensembl: ENSG00000081248
UniProt: Q13698
Structure
LinkDB
Position
1:complement(201039512..201112426)
AA seq 1873 aa
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL
NT seq 5622 nt   +upstreamnt  +downstreamnt
atggagccatcctcaccccaggatgaaggcctgaggaagaaacagcccaagaagccagtt
cctgagattctgccaaggccaccccgggccttgttctgcctgaccctggagaaccccctg
aggaaggcctgcatcagcattgtagaatggaagcccttcgagacgatcatcttgctcacc
atctttgccaattgtgtggccctggccgtgtacctgcccatgccggaagatgacaacaac
tctctgaacctcggcctggagaagctggagtatttcttcctcattgtcttctcgattgaa
gccgccatgaagatcattgcctacggcttcttattccaccaggacgcttacctgcgcagt
ggctggaatgtgctggacttcaccattgtcttcctgggggtcttcaccgtgattctggaa
caggttaacgtcatccaaagccacacagccccaatgagcagcaaaggagccggcttggat
gtcaaggccctcagagccttccgagtgctcagacccctccggctggtgtcgggggtgcct
agcctgcaggtggtcctgaactccatcttcaaggccatgctccccctctttcacatcgcc
ctgctggtcctctttatggtcatcatctatgccatcatcgggctggagctcttcaagggc
aagatgcacaagacctgctacttcattggtacagatatcgtggccacggtggagaatgaa
gagccatcgccctgcgccaggacgggctcagggcgccggtgcaccatcaatggcagtgag
tgccggggcggctggccagggcccaaccatggcatcacccacttcgacaacttcggcttc
tccatgctcaccgtgtaccagtgcattaccatggagggatggactgacgtcctttactgg
gtcaatgatgccatcgggaatgagtggccctggatctattttgtcaccctcattttgctg
ggatccttcttcatcctcaacctggtgctgggtgtcctgagtggggaattcaccaaggag
cgggagaaggccaagtccaggggaaccttccagaagctccgggagaagcagcaactagat
gaggaccttcggggctacatgagctggatcacgcagggcgaggtcatggatgttgaggac
ttcagagaaggaaaactgtctttggatgaaggtggctctgacacagagagcctgtatgaa
attgcaggcttgaacaaaatcatccagttcatccgacattggaggcagtggaaccgcatc
tttcgctggaagtgccatgacatcgtgaagtccaaggtcttctattggctggtgattctc
atcgttgccctcaacaccctgtctatcgcctcagagcaccacaaccagcctctctggctg
acccgtttgcaagacattgccaaccgggtgctgctgtccctcttcaccactgagatgctg
atgaagatgtacgggctgggcctgcgccagtacttcatgtctatcttcaaccgcttcgac
tgcttcgtggtgtgtagcggtatcctggagatcctgctggtggagtcgggtgccatgaca
cccctgggcatctccgtgctccgctgcatccgcctcctgaggatcttcaagatcaccaaa
tattggacgtcgctgagcaacctggtggcatccctgctcaactccatccgctccatcgcc
tccctgctgctgctgctcttcctcttcatcgtcatcttcgccctcctgggcatgcagctc
tttggggggaggtatgactttgaagacacagaagtacggcgcagcaactttgacaacttt
ccccaagccctcatcagcgtcttccaggtactgacaggggaagactggacctcaatgatg
tacaatgggatcatggcctacggcgggccgtcctaccctggcatgcttgtgtgcatttac
ttcatcatccttttcgtctgtggcaactacatcctgctcaatgtcttcctggccattgcc
gtggacaacctggccgaggcggagagcctgacttctgcccagaaggccaaggctgaggag
aaaaaacgcaggaagatgtccaagggtctcccagacaagtcagaagaggagaagtcaacg
atggccaagaagctggagcagaaacccaagggtgagggcatccccaccactgccaagctg
aaaatcgatgagtttgaatctaatgtcaatgaggtgaaggatccctacccctcagccgac
ttcccaggggatgacgaggaagatgagcctgagatcccgctgagcccccgaccacgtccc
ctggctgagctgcagctgaaagagaaggccgtgcccattccagaagccagctccttcttc
atcttcagccccaccaataagatccgtgtcctgtgtcaccgcatcgtcaatgccacctgg
tttaccaacttcatcctgctcttcatcctgctcagcagcgctgcactggctgcggaagac
cccatccgggctgattccatgagaaatcagatccttaaacactttgacatcgggttcacc
tctgtcttcactgtggagattgtcctcaagatgacgacctacggagccttcctgcacaag
ggttccttctgccgcaattacttcaacatgctggacctgctggtggtggccgtgtccctc
atctccatgggacttgagtccagtgccatctccgtggtgaagatcctgagggtgctgagg
gtgctccgaccactcagagccatcaacagagccaaggggttgaagcacgtggtgcagtgc
atgttcgtggccatcagcaccatcgggaacatcgtgctggtcactaccctcctacagttc
atgtttgcctgcatcggcgtccagctcttcaaggggaagttcttcaggtgcaccgacttg
tccaagatgacagaggaggagtgcaggggctactactacgtgtacaaggacggggacccc
atgcagatagagctgcgtcaccgcgagtgggtacacagcgacttccacttcgacaatgtg
ctctcagccatgatgtccctcttcacggtctccaccttcgagggatggcctcagctgctg
tacaaggccatagactccaatgcggaggacgtgggtcccatctacaacaaccgtgtggag
atggccatcttcttcatcatctacatcatcctcattgccttcttcatgatgaacatcttt
gtgggcttcgtcattgtcaccttccaggagcagggagagactgagtacaagaactgtgag
ctggacaagaaccagcgccaatgtgtacagtatgccctgaaggcccgcccactgaggtgc
tacattcccaaaaacccataccagtaccaggtgtggtacattgtcacctcctcctacttt
gaatacctgatgtttgccctcatcatgctcaacaccatctgcctcggcatgcagcactac
aaccagtcggagcagatgaaccacatctcagacatcctcaatgtggccttcactatcatc
ttcaccctggagatgatcctcaagctcatggccttcaaggccaggggctactttggagac
ccctggaatgtgtttgacttcctgattgtcattggcagcatcattgatgtcatcctcagt
gagatcgacactttcctggcctccagcgggggactgtattgcctgggtggaggctgcggg
aacgttgacccagatgagagtgcccgcatctccagcgccttcttccgcctgttccgtgtc
atgaggctgatcaagctgctgagccgggcagaaggagtgcgaaccctcctgtggacgttc
atcaagtccttccaggccctaccctacgtggctctgctcatcgtcatgctcttcttcatc
tacgctgtcatcggcatgcagatgtttgggaagatcgccttggtggatgggacccaaata
aaccggaacaacaacttccagaccttcccacaagctgtgctactgctcttcaggtgtgca
acaggtgaggcctggcaggagatcctactggcctgcagctatgggaagctgtgtgaccca
gagtcggactatgccccaggggaggagtacacatgtggcaccaactttgcatactactac
ttcatcagcttctacatgctctgtgccttcctggtcatcaacctctttgtggctgtcatc
atggacaattttgactacctcacccgggactggtccatcctgggccctcatcacctggat
gagttcaaggccatctgggcagagtatgacccagaggctaaggggagaatcaaacacctg
gacgtggtgaccctgctgagaaggattcagccccctctgggctttgggaagttctgccca
catcgggtagcttgtaagcggctggtgggcatgaacatgcccctgaacagcgacggcaca
gtcaccttcaatgccacactctttgccctggtccgcacggcactcaagatcaagacggaa
ggtaactttgagcaggccaacgaggagctgagggccatcatcaagaagatctggaagaga
accagcatgaagctcttggaccaggtcatccctccaataggagatgatgaggtgacagtg
gggaagttctacgccacattcctcatccaggagcacttccggaagttcatgaaacgccaa
gaggagtattatggctatcggcccaagaaggacattgtacagatccaggcagggctgcgg
accattgaggaagaggcagcccccgagatctgtcgcacggtctcaggagacctggctgct
gaggaggagctggagagagccatggtggaggctgcgatggaggagggaatattccggagg
actggaggcctgtttggccaggtggacaacttcctggaaaggaccaactccctgcccccc
gtcatggccaatcagagacccctccagtttgctgagatagagatggaagagatggagtca
cctgtcttcttggaggacttcccacaagatccacgcaccaaccccctggctcgtgccaat
accaacaatgccaacgccaatgtcgcctatggcaacagcaaccatagcaacagccatgtg
ttttccagtgtccactatgaaagggagttcccagaagagacagagacgcctgctaccaga
ggacgagcccttggccaaccctgcagggtcctgggaccccacagcaaaccctgtgtggag
atgctgaagggactgctgacccagagggcaatgcccagaggccaggcacctcctgccccc
tgccagtgccccagggtggagtcctccatgcctgaggacagaaagagctccacaccaggg
tctcttcatgaggagacaccccacagcaggagcaccagggagaatacttccaggtgctca
gcaccagctacagccctgctgatccaaaaggctctggttcgagggggcctgggcaccttg
gcagctgatgcaaacttcatcatggcaacaggccaggccctggcagatgcctgccaaatg
gaaccagaggaagtggagatcatggcaacagagctactgaaaggacgagaggccccagag
ggcatggccagctccctgggatgcctgaacctcgggtcctccctgggcagcctcgaccaa
caccagggctcccaggagacccttattcctccaaggctgtga

KEGG   Homo sapiens (human): 775
Entry
775               CDS       T01001                                 
Symbol
CACNA1C, CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS._LQT8
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 C
  KO
K04850  voltage-dependent calcium channel L type alpha-1C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04713  Circadian entrainment
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04742  Taste transduction
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05031  Amphetamine addiction
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01639  Cardiac-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00720  Long QT syndrome
H00728  Brugada syndrome
H02856  Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    775 (CACNA1C)
   04020 Calcium signaling pathway
    775 (CACNA1C)
   04024 cAMP signaling pathway
    775 (CACNA1C)
   04022 cGMP-PKG signaling pathway
    775 (CACNA1C)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    775 (CACNA1C)
   04929 GnRH secretion
    775 (CACNA1C)
   04912 GnRH signaling pathway
    775 (CACNA1C)
   04921 Oxytocin signaling pathway
    775 (CACNA1C)
   04935 Growth hormone synthesis, secretion and action
    775 (CACNA1C)
   04924 Renin secretion
    775 (CACNA1C)
   04925 Aldosterone synthesis and secretion
    775 (CACNA1C)
   04927 Cortisol synthesis and secretion
    775 (CACNA1C)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    775 (CACNA1C)
   04261 Adrenergic signaling in cardiomyocytes
    775 (CACNA1C)
   04270 Vascular smooth muscle contraction
    775 (CACNA1C)
  09156 Nervous system
   04724 Glutamatergic synapse
    775 (CACNA1C)
   04727 GABAergic synapse
    775 (CACNA1C)
   04725 Cholinergic synapse
    775 (CACNA1C)
   04728 Dopaminergic synapse
    775 (CACNA1C)
   04726 Serotonergic synapse
    775 (CACNA1C)
   04720 Long-term potentiation
    775 (CACNA1C)
   04723 Retrograde endocannabinoid signaling
    775 (CACNA1C)
  09157 Sensory system
   04742 Taste transduction
    775 (CACNA1C)
  09159 Environmental adaptation
   04713 Circadian entrainment
    775 (CACNA1C)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    775 (CACNA1C)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    775 (CACNA1C)
   05020 Prion disease
    775 (CACNA1C)
   05022 Pathways of neurodegeneration - multiple diseases
    775 (CACNA1C)
  09165 Substance dependence
   05031 Amphetamine addiction
    775 (CACNA1C)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    775 (CACNA1C)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    775 (CACNA1C)
   05414 Dilated cardiomyopathy
    775 (CACNA1C)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    775 (CACNA1C)
   04934 Cushing syndrome
    775 (CACNA1C)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    775 (CACNA1C)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   775 (CACNA1C)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel CAC1F_C
Other DBs
NCBI-GeneID: 775
NCBI-ProteinID: NP_955630
OMIM: 114205
HGNC: 1390
Ensembl: ENSG00000151067
UniProt: Q13936 Q59GU3 Q5V9X9
Structure
LinkDB
Position
12:1970780..2697950
AA seq 2221 aa
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVF
TSIFTLEIILKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVL
RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSD
SSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPEL
LYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVIL
SETNHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFR
VMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTE
INRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRI
KTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASE
DDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLS
SNRERHVPMCEDLELRRDSGSAGTQAHCLLLRRANPSRCHSRESQAAMAGQEETSQDETY
EVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRA
SFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPA
TPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESA
ADNILSGGAPQSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSS
L
NT seq 6666 nt   +upstreamnt  +downstreamnt
atggtcaatgagaatacgaggatgtacattccagaggaaaaccaccaaggttccaactat
gggagcccacgccccgcccatgccaacatgaatgccaatgcggcagcggggctggcccct
gagcacatccccaccccgggggctgccctgtcgtggcaggcggccatcgacgcagcccgg
caggctaagctgatgggcagcgctggcaatgcgaccatctccacagtcagctccacgcag
cggaagcggcagcaatatgggaaacccaagaagcagggcagcaccacggccacacgcccg
ccccgagccctgctctgcctgaccctgaagaaccccatccggagggcctgcatcagcatt
gtcgaatggaaaccatttgaaataattattttactgactatttttgccaattgtgtggcc
ttagcgatctatattccctttccagaagatgattccaacgccaccaattccaacctggaa
cgagtggaatatctctttctcataatttttacggtggaagcgtttttaaaagtaatcgcc
tatggactcctctttcaccccaatgcctacctccgcaacggctggaacctactagatttt
ataattgtggttgtggggctttttagtgcaattttagaacaagcaaccaaagcagatggg
gcaaacgctctcggagggaaaggggccggatttgatgtgaaggcgctgagggccttccgc
gtgctgcgccccctgcggctggtgtccggagtcccaagtctccaggtggtcctgaattcc
atcatcaaggccatggtccccctgctgcacatcgccctgcttgtgctgtttgtcatcatc
atctacgccatcatcggcttggagctcttcatggggaagatgcacaagacctgctacaac
caggagggcatagcagatgttccagcagaagatgacccttccccttgtgcgctggaaacg
ggccacgggcggcagtgccagaacggcacggtgtgcaagcccggctgggatggtcccaag
cacggcatcaccaactttgacaactttgccttcgccatgctcacggtgttccagtgcatc
accatggagggctggacggacgtgctgtactgggtcaatgatgccgtaggaagggactgg
ccctggatctattttgttacactaatcatcatagggtcattttttgtacttaacttggtt
ctcggtgtgcttagcggagagttttccaaagagagggagaaggccaaggcccggggagat
ttccagaagctgcgggagaagcagcagctagaagaggatctcaaaggctacctggattgg
atcactcaggccgaagacatcgatcctgagaatgaggacgaaggcatggatgaggagaag
ccccgaaacatgagcatgcccaccagtgagaccgagtccgtcaacaccgaaaacgtggct
ggaggtgacatcgagggagaaaactgcggggccaggctggcccaccggatctccaagtca
aagttcagccgctactggcgccggtggaatcggttctgcagaaggaagtgccgcgccgca
gtcaagtctaatgtcttctactggctggtgattttcctggtgttcctcaacacgctcacc
attgcctctgagcactacaaccagcccaactggctcacagaagtccaagacacggcaaac
aaggccctgctggccctgttcacggcagagatgctcctgaagatgtacagcctgggcctg
caggcctacttcgtgtccctcttcaaccgctttgactgcttcgtcgtgtgtggcggcatc
ctggagaccatcctggtggagaccaagatcatgtccccactgggcatctccgtgctcaga
tgcgtccggctgctgaggattttcaagatcacgaggtactggaactccttgagcaacctg
gtggcatccttgctgaactctgtgcgctccatcgcctccctgctccttctcctcttcctc
ttcatcatcatcttctccctcctggggatgcagctctttggaggaaagttcaactttgat
gagatgcagacccggaggagcacattcgataacttcccccagtccctcctcactgtgttt
cagatcctgaccggggaggactggaattcggtgatgtatgatgggatcatggcttatggc
ggcccctcttttccagggatgttagtctgtatttacttcatcatcctcttcatctgtgga
aactatatcctactgaatgtgttcttggccattgctgtggacaacctggctgatgctgag
agcctcacatctgcccaaaaggaggaggaagaggagaaggagagaaagaagctggccagg
actgccagcccagagaagaaacaagagttggtggagaagccggcagtgggggaatccaag
gaggagaagattgagctgaaatccatcacggctgacggagagtctccacccgccaccaag
atcaacatggatgacctccagcccaatgaaaatgaggataagagcccctaccccaaccca
gaaactacaggagaagaggatgaggaggagccagagatgcctgtcggccctcgcccacga
ccactctctgagcttcaccttaaggaaaaggcagtgcccatgccagaagccagcgcgttt
ttcatcttcagctctaacaacaggtttcgcctccagtgccaccgcattgtcaatgacacg
atcttcaccaacctgatcctcttcttcattctgctcagcagcatttccctggctgctgag
gacccggtccagcacacctccttcaggaaccatattctgttttattttgatattgttttt
accaccattttcaccattgaaattgctctgaagatcctaggcaatgcagactatgtcttc
actagtatctttacattagaaattatccttaagatgactgcttatggggctttcttgcac
aagggttctttctgccggaactacttcaacatcctggacctgctggtggtcagcgtgtcc
ctcatctcctttggcatccagtccagtgcaatcaatgtcgtgaagatcttgcgagtcctg
cgagtactcaggcccctgagggccatcaacagggccaaggggctaaagcatgtggttcag
tgtgtgtttgtcgccatccggaccatcgggaacatcgtgattgtcaccaccctgctgcag
ttcatgtttgcctgcatcggggtccagctcttcaagggaaagctgtacacctgttcagac
agttccaagcagacagaggcggaatgcaagggcaactacatcacgtacaaagacggggag
gttgaccaccccatcatccaaccccgcagctgggagaacagcaagtttgactttgacaat
gttctggcagccatgatggccctcttcaccgtctccaccttcgaagggtggccagagctg
ctgtaccgctccatcgactcccacacggaagacaagggccccatctacaactaccgtgtg
gagatctccatcttcttcatcatctacatcatcatcatcgccttcttcatgatgaacatc
ttcgtgggcttcgtcatcgtcacctttcaggagcagggggagcaggagtacaagaactgt
gagctggacaagaaccagcgacagtgcgtggaatacgccctcaaggcccggcccctgcgg
aggtacatccccaagaaccagcaccagtacaaagtgtggtacgtggtcaactccacctac
ttcgagtacctgatgttcgtcctcatcctgctcaacaccatctgcctggccatgcagcac
tacggccagagctgcctgttcaaaatcgccatgaacatcctcaacatgctcttcactggc
ctcttcaccgtggagatgatcctgaagctcattgccttcaaacccaagggttactttagt
gatccctggaatgtttttgacttcctcatcgtaattggcagcataattgacgtcattctc
agtgagactaatcactatttctgtgatgcatggaatacatttgacgccttgattgttgtg
ggtagcattgttgatatagcaatcaccgaggtaaacccagctgaacatacccaatgctct
ccctctatgaacgcagaggaaaactcccgcatctccatcaccttcttccgcctgttccgg
gtcatgcgtctggtgaagctgctgagccgtggggagggcatccggacgctgctgtggacc
ttcatcaagtccttccaggccctgccctatgtggccctcctgatcgtgatgctgttcttc
atctacgcggtgatcgggatgcaggtgtttgggaaaattgccctgaatgataccacagag
atcaaccggaacaacaactttcagaccttcccccaggccgtgctgctcctcttcaggtgt
gccaccggggaggcctggcaggacatcatgctggcctgcatgccaggcaagaagtgtgcc
ccagagtccgagcccagcaacagcacggagggtgaaacaccctgtggtagcagctttgct
gtcttctacttcatcagcttctacatgctctgtgccttcctgatcatcaacctctttgta
gctgtcatcatggacaactttgactacctgacaagggactggtccatccttggtccccac
cacctggatgagtttaaaagaatctgggcagagtatgaccctgaagccaagggtcgtatc
aaacacctggatgtggtgaccctcctccggcggattcagccgccactaggttttgggaag
ctgtgccctcaccgcgtggcttgcaaacgcctggtctccatgaacatgcctctgaacagc
gacgggacagtcatgttcaatgccaccctgtttgccctggtcaggacggccctgaggatc
aaaacagaagggaacctagaacaagccaatgaggagctgcgggcgatcatcaagaagatc
tggaagcggaccagcatgaagctgctggaccaggtggtgccccctgcaggtgatgatgag
gtcaccgttggcaagttctacgccacgttcctgatccaggagtacttccggaagttcaag
aagcgcaaagagcagggccttgtgggcaagccctcccagaggaacgcgctgtctctgcag
gctggcttgcgcacactgcatgacatcgggcctgagatccgacgggccatctctggagat
ctcaccgctgaggaggagctggacaaggccatgaaggaggctgtgtccgctgcttctgaa
gatgacatcttcaggagggccggtggcctgttcggcaaccacgtcagctactaccaaagc
gacggccggagcgccttcccccagaccttcaccactcagcgcccgctgcacatcaacaag
gcgggcagcagccagggcgacactgagtcgccatcccacgagaagctggtggactccacc
ttcaccccgagcagctactcgtccaccggctccaacgccaacatcaacaacgccaacaac
accgccctgggtcgcctccctcgccccgccggctaccccagcacggtcagcactgtggag
ggccacgggccccccttgtcccctgccatccgggtgcaggaggtggcgtggaagctcagc
tccaacagggaaaggcacgttccgatgtgtgaggatctggagctcaggagggattcaggc
tcagcagggactcaggctcactgccttctgctcaggagagcaaacccctctaggtgccac
tcccgggagagccaggcagccatggcgggtcaggaggagacgtctcaggatgagacctat
gaagtgaagatgaaccatgacacggaggcctgcagtgagcccagcctgctctccacagag
atgctctcctaccaggatgacgaaaatcggcaactgacgctcccagaggaggacaagagg
gacatccggcaatctccgaagaggggtttcctccgctctgcctcactaggtcgaagggcc
tccttccacctggaatgtctgaagcgacagaaggaccgagggggagacatctctcagaag
acagtcctgcccttgcatctggttcatcatcaggcattggcagtggcaggcctgagcccc
ctcctccagagaagccattcccctgcctcattccctaggccttttgccaccccaccagcc
acacctggcagccgaggctggcccccacagcccgtccccaccctgcggcttgagggggtc
gagtccagtgagaaactcaacagcagcttcccatccatccactgcggctcctgggctgag
accacccccggtggcgggggcagcagcgccgcccggagagtccggcccgtctccctcatg
gtgcccagccaggctggggccccagggaggcagttccacggcagtgccagcagcctggtg
gaagcggtcttgatttcagaaggactggggcagtttgctcaagatcccaagttcatcgag
gtcaccacccaggagctggccgacgcctgcgacatgaccatagaggagatggagagcgcg
gccgacaacatcctcagcgggggcgccccacagagccccaatggcgccctcttacccttt
gtgaactgcagggacgcggggcaggaccgagccgggggcgaagaggacgcgggctgtgtg
cgcgcgcggggtcgaccgagtgaggaggagctccaggacagcagggtctacgtcagcagc
ctgtag

KEGG   Homo sapiens (human): 773
Entry
773               CDS       T01001                                 
Symbol
CACNA1A, APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 A
  KO
K04344  voltage-dependent calcium channel P/Q type alpha-1A
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
hsa04742  Taste transduction
hsa04930  Type II diabetes mellitus
hsa05017  Spinocerebellar ataxia
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
hsa05207  Chemical carcinogenesis - receptor activation
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N00968  Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
N00969  Mutation-inactivated CACNA1A to VGCC-Ca2- -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
N01899  Gbeta/gamma-CACNA signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
H00606  Early infantile epileptic encephalopathy
H00749  Episodic ataxias
H00775  Hemiplegic migraine
H01808  Hemiconvulsion-hemiplegia-epilepsy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    773 (CACNA1A)
   04020 Calcium signaling pathway
    773 (CACNA1A)
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    773 (CACNA1A)
   04727 GABAergic synapse
    773 (CACNA1A)
   04725 Cholinergic synapse
    773 (CACNA1A)
   04728 Dopaminergic synapse
    773 (CACNA1A)
   04726 Serotonergic synapse
    773 (CACNA1A)
   04730 Long-term depression
    773 (CACNA1A)
   04723 Retrograde endocannabinoid signaling
    773 (CACNA1A)
   04721 Synaptic vesicle cycle
    773 (CACNA1A)
  09157 Sensory system
   04742 Taste transduction
    773 (CACNA1A)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    773 (CACNA1A)
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    773 (CACNA1A)
  09165 Substance dependence
   05032 Morphine addiction
    773 (CACNA1A)
   05033 Nicotine addiction
    773 (CACNA1A)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    773 (CACNA1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    773 (CACNA1A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   773 (CACNA1A)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 773
NCBI-ProteinID: NP_001120694
OMIM: 601011
HGNC: 1388
Ensembl: ENSG00000141837
UniProt: O00555
Structure
LinkDB
Position
19:complement(13206442..13506479)
AA seq 2506 aa
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
NT seq 7521 nt   +upstreamnt  +downstreamnt
atggcccgcttcggagacgagatgccggcccgctacgggggaggaggctccggggcagcc
gccggggtggtcgtgggcagcggaggcgggcgaggagccgggggcagccggcagggcggg
cagcccggggcgcaaaggatgtacaagcagtcaatggcgcagagagcgcggaccatggca
ctctacaaccccatccccgtccgacagaactgcctcacggttaaccggtctctcttcctc
ttcagcgaagacaacgtggtgagaaaatacgccaaaaagatcaccgaatggcctcccttt
gaatatatgattttagccaccatcatagcgaattgcatcgtcctcgcactggagcagcat
ctgcctgatgatgacaagaccccgatgtctgaacggctggatgacacagaaccatacttc
attggaattttttgtttcgaggctggaattaaaatcattgcccttgggtttgccttccac
aaaggctcctacttgaggaatggctggaatgtcatggactttgtggtggtgctaacgggc
atcttggcgacagttgggacggagtttgacctacggacgctgagggcagttcgagtgctg
cggccgctcaagctggtgtctggaatcccaagtttacaagtcgtcctgaagtcgatcatg
aaggcgatgatccctttgctgcagatcggcctcctcctattttttgcaatccttattttt
gcaatcatagggttagaattttatatgggaaaatttcataccacctgctttgaagagggg
acagatgacattcagggtgagtctccggctccatgtgggacagaagagcccgcccgcacc
tgccccaatgggaccaaatgtcagccctactgggaagggcccaacaacgggatcactcag
ttcgacaacatcctgtttgcagtgctgactgttttccagtgcataaccatggaagggtgg
actgatctcctctacaatagcaacgatgcctcagggaacacttggaactggttgtacttc
atccccctcatcatcatcggctccttttttatgctgaaccttgtgctgggtgtgctgtca
ggggagtttgccaaagaaagggaacgggtggagaaccggcgggcttttctgaagctgagg
cggcaacaacagattgaacgtgagctcaatgggtacatggagtggatctcaaaagcagaa
gaggtgatcctcgccgaggatgaaactgacggggagcagaggcatccctttgatgctctg
cggagaaccaccataaagaaaagcaagacagatttgctcaaccccgaagaggctgaggat
cagctggctgatatagcctctgtgggttctcccttcgcccgagccagcattaaaagtgcc
aagctggagaactcgaccttttttcacaaaaaggagaggaggatgcgtttctacatccgc
cgcatggtcaaaactcaggccttctactggactgtactcagtttggtagctctcaacacg
ctgtgtgttgctattgttcactacaaccagcccgagtggctctccgacttcctttactat
gcagaattcattttcttaggactctttatgtccgaaatgtttataaaaatgtacgggctt
gggacgcggccttacttccactcttccttcaactgctttgactgtggggttatcattggg
agcatcttcgaggtcatctgggctgtcataaaacctggcacatcctttggaatcagcgtg
ttacgagccctcaggttattgcgtattttcaaagtcacaaagtactgggcatctctcaga
aacctggtcgtctctctcctcaactccatgaagtccatcatcagcctgttgtttctcctt
ttcctgttcattgtcgtcttcgcccttttgggaatgcaactcttcggcggccagtttaat
ttcgatgaagggactcctcccaccaacttcgatacttttccagcagcaataatgacggtg
tttcagatcctgacgggcgaagactggaacgaggtcatgtacgacgggatcaagtctcag
gggggcgtgcagggcggcatggtgttctccatctatttcattgtactgacgctctttggg
aactacaccctcctgaatgtgttcttggccatcgctgtggacaatctggccaacgcccag
gagctcaccaaggacgagcaagaggaagaagaagcagcgaaccagaaacttgccctacag
aaagccaaggaggtggcagaagtgagtcctctgtccgcggccaacatgtctatagctgtg
aaagagcaacagaagaatcaaaagccagccaagtccgtgtgggagcagcggaccagtgag
atgcgaaagcagaacttgctggccagccgggaggccctgtataacgaaatggacccggac
gagcgctggaaggctgcctacacgcggcacctgcggccagacatgaagacgcacttggac
cggccgctggtggtggacccgcaggagaaccgcaacaacaacaccaacaagagccgggcg
gccgagcccaccgtggaccagcgcctcggccagcagcgcgccgaggacttcctcaggaaa
caggcccgctaccacgatcgggcccgggaccccagcggctcggcgggcctggacgcacgg
aggccctgggcgggaagccaggaggccgagctgagccgggagggaccctacggccgcgag
tcggaccaccacgcccgggagggcagcctggagcaacccgggttctgggagggcgaggcc
gagcgaggcaaggccggggacccccaccggaggcacgtgcaccggcaggggggcagcagg
gagagccgcagcgggtccccgcgcacgggcgcggacggggagcatcgacgtcatcgcgcg
caccgcaggcccggggaggagggtccggaggacaaggcggagcggagggcgcggcaccgc
gagggcagccggccggcccggggcggcgagggcgagggcgagggccccgacgggggcgag
cgcaggagaaggcaccggcatggcgctccagccacgtacgagggggacgcgcggagggag
gacaaggagcggaggcatcggaggaggaaagagaaccagggctccggggtccctgtgtcg
ggccccaacctgtcaaccacccggccaatccagcaggacctgggccgccaagacccaccc
ctggcagaggatattgacaacatgaagaacaacaagctggccaccgcggagtcggccgct
ccccacggcagccttggccacgccggcctgccccagagcccagccaagatgggaaacagc
accgaccccggccccatgctggccatccctgccatggccaccaacccccagaacgccgcc
agccgccggacgcccaacaacccggggaacccatccaatcccggcccccccaagaccccc
gagaatagccttatcgtcaccaaccccagcggcacccagaccaattcagctaagactgcc
aggaaacccgaccacaccacagtggacatccccccagcctgcccaccccccctcaaccac
accgtcgtacaagtgaacaaaaacgccaacccagacccactgccaaaaaaagaggaagag
aagaaggaggaggaggaagacgaccgtggggaagacggccctaagccaatgcctccctat
agctccatgttcatcctgtccacgaccaacccccttcgccgcctgtgccattacatcctg
aacctgcgctactttgagatgtgcatcctcatggtcattgccatgagcagcatcgccctg
gccgccgaggaccctgtgcagcccaacgcacctcggaacaacgtgctgcgatactttgac
tacgtttttacaggcgtctttacctttgagatggtgatcaagatgattgacctggggctc
gtcctgcatcagggtgcctacttccgtgacctctggaatattctcgacttcatagtggtc
agtggggccctggtagcctttgccttcactggcaatagcaaaggaaaagacatcaacacg
attaaatccctccgagtcctccgggtgctacgacctcttaaaaccatcaagcggctgcca
aagctcaaggctgtgtttgactgtgtggtgaactcacttaaaaacgtcttcaacatcctc
atcgtctacatgctattcatgttcatcttcgccgtggtggctgtgcagctcttcaagggg
aaattcttccactgcactgacgagtccaaagagtttgagaaagattgtcgaggcaaatac
ctcctctacgagaagaatgaggtgaaggcgcgagaccgggagtggaagaagtatgaattc
cattacgacaatgtgctgtgggctctgctgaccctcttcaccgtgtccacgggagaaggc
tggccacaggtcctcaagcattcggtggacgccacctttgagaaccagggccccagcccc
gggtaccgcatggagatgtccattttctacgtcgtctactttgtggtgttccccttcttc
tttgtcaatatctttgtggccttgatcatcatcaccttccaggagcaaggggacaagatg
atggaggaatacagcctggagaaaaatgagagggcctgcattgatttcgccatcagcgcc
aagccgctgacccgacacatgccgcagaacaagcagagcttccagtaccgcatgtggcag
ttcgtggtgtctccgcctttcgagtacacgatcatggccatgatcgccctcaacaccatc
gtgcttatgatgaagttctatggggcttctgttgcttatgaaaatgccctgcgggtgttc
aacatcgtcttcacctccctcttctctctggaatgtgtgctgaaagtcatggcttttggg
attctgaattatttccgcgatgcctggaacatcttcgactttgtgactgttctgggcagc
atcaccgatatcctcgtgactgagtttgggaataacttcatcaacctgagctttctccgc
ctcttccgagctgcccggctcatcaaacttctccgtcagggttacaccatccgcattctt
ctctggacctttgtgcagtccttcaaggccctgccttatgtctgtctgctgatcgccatg
ctcttcttcatctatgccatcattgggatgcaggtgtttggtaacattggcatcgacgtg
gaggacgaggacagtgatgaagatgagttccaaatcactgagcacaataacttccggacc
ttcttccaggccctcatgcttctcttccggagtgccaccggggaagcttggcacaacatc
atgctttcctgcctcagcgggaaaccgtgtgataagaactctggcatcctgactcgagag
tgtggcaatgaatttgcttatttttactttgtttccttcatcttcctctgctcgtttctg
atgctgaatctctttgtcgccgtcatcatggacaactttgagtacctcacccgagactcc
tccatcctgggcccccaccacctggatgagtacgtgcgtgtctgggccgagtatgacccc
gcagcttggggccgcatgccttacctggacatgtatcagatgctgagacacatgtctccg
cccctgggtctggggaagaagtgtccggccagagtggcttacaagcggcttctgcggatg
gacctgcccgtcgcagatgacaacaccgtccacttcaattccaccctcatggctctgatc
cgcacagccctggacatcaagattgccaagggaggagccgacaaacagcagatggacgct
gagctgcggaaggagatgatggcgatttggcccaatctgtcccagaagacgctagacctg
ctggtcacacctcacaagtccacggacctcaccgtggggaagatctacgcagccatgatg
atcatggagtactaccggcagagcaaggccaagaagctgcaggccatgcgcgaggagcag
gaccggacacccctcatgttccagcgcatggagcccccgtccccaacgcaggaaggggga
cctggccagaacgccctcccctccacccagctggacccaggaggagccctgatggctcac
gaaagcggcctcaaggagagcccgtcctgggtgacccagcgtgcccaggagatgttccag
aagacgggcacatggagtccggaacaaggcccccctaccgacatgcccaacagccagcct
aactctcagtccgtggagatgcgagagatgggcagagatggctactccgacagcgagcac
tacctccccatggaaggccagggccgggctgcctccatgccccgcctccctgcagagaac
cagaggagaaggggccggccacgtgggaataacctcagtaccatctcagacaccagcccc
atgaagcgttcagcctccgtgctgggccccaaggcccgacgcctggacgattactcgctg
gagcgggtcccgcccgaggagaaccagcggcaccaccagcggcgccgcgaccgcagccac
cgcgcctctgagcgctccctgggccgctacaccgatgtggacacaggcttggggacagac
ctgagcatgaccacccaatccggggacctgccgtcgaaggagcgggaccaggagcggggc
cggcccaaggatcggaagcatcgacagcaccaccaccaccaccaccaccaccaccatccc
ccgccccccgacaaggaccgctatgcccaggaacggccggaccacggccgggcacgggct
cgggaccagcgctggtcccgctcgcccagcgagggccgagagcacatggcgcaccggcag
ggcagtagttccgtaagtggaagcccagccccctcaacatctggtaccagcactccgcgg
cggggccgccgccagctcccccagaccccctccaccccccggccacacgtgtcctattcc
cctgtgatccgtaaggccggcggctcggggcccccgcagcagcagcagcagcagcagcag
cagcagcagcagcaggcggtggccaggccgggccgggcggccaccagcggccctcggagg
tacccaggccccacggccgagcctctggccggagatcggccgcccacggggggccacagc
agcggccgctcgcccaggatggagaggcgggtcccaggcccggcccggagcgagtccccc
agggcctgtcgacacggcggggcccggtggccggcatctggcccgcacgtgtccgagggg
cccccgggtccccggcaccatggctactaccggggctccgactacgacgaggccgatggc
ccgggcagcgggggcggcgaggaggccatggccggggcctacgacgcgccaccccccgta
cgacacgcgtcctcgggcgccaccgggcgctcgcccaggactccccgggcctcgggcccg
gcctgcgcctcgccttctcggcacggccggcgactccccaacggctactacccggcgcac
ggactggccaggccccgcgggccgggctccaggaagggcctgcacgaaccctacagcgag
agtgacgatgattggtgctaa

KEGG   Homo sapiens (human): 774
Entry
774               CDS       T01001                                 
Symbol
CACNA1B, BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 B
  KO
K04849  voltage-dependent calcium channel N type alpha-1B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04930  Type II diabetes mellitus
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
hsa05207  Chemical carcinogenesis - receptor activation
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
N01899  Gbeta/gamma-CACNA signaling
Disease
H02859  Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Drug target
Cilnidipine: D01173<JP>
Ziconotide (DG00832): D06363 D08686<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    774 (CACNA1B)
   04020 Calcium signaling pathway
    774 (CACNA1B)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    774 (CACNA1B)
   04725 Cholinergic synapse
    774 (CACNA1B)
   04728 Dopaminergic synapse
    774 (CACNA1B)
   04726 Serotonergic synapse
    774 (CACNA1B)
   04723 Retrograde endocannabinoid signaling
    774 (CACNA1B)
   04721 Synaptic vesicle cycle
    774 (CACNA1B)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    774 (CACNA1B)
  09164 Neurodegenerative disease
   05016 Huntington disease
    774 (CACNA1B)
   05020 Prion disease
    774 (CACNA1B)
   05022 Pathways of neurodegeneration - multiple diseases
    774 (CACNA1B)
  09165 Substance dependence
   05032 Morphine addiction
    774 (CACNA1B)
   05033 Nicotine addiction
    774 (CACNA1B)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    774 (CACNA1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    774 (CACNA1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   774 (CACNA1B)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel Phage_TAC_15
Other DBs
NCBI-GeneID: 774
NCBI-ProteinID: NP_000709
OMIM: 601012
HGNC: 1389
Ensembl: ENSG00000148408
UniProt: Q00975
Structure
LinkDB
Position
9:137877782..138124619
AA seq 2339 aa
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
NT seq 7020 nt   +upstreamnt  +downstreamnt
atggtccgcttcggggacgagctgggcggccgctatgggggccccggcggcggagagcgg
gcccggggcggcggggccggcggggcggggggcccgggtcccggggggctgcagcccggc
cagcgggtcctctacaagcaatcgatcgcgcagcgcgcgcggaccatggcgctgtacaac
cccatcccggtcaagcagaactgcttcaccgtcaaccgctcgctcttcgtcttcagcgag
gacaacgtcgtccgcaaatacgcgaagcgcatcaccgagtggcctccattcgagtatatg
atcctggccaccatcatcgccaactgcatcgtgctggccctggagcagcacctccctgat
ggggacaaaacgcccatgtccgagcggctggacgacacggagccctatttcatcgggatc
ttttgcttcgaggcagggatcaaaatcatcgctctgggctttgtcttccacaagggctct
tacctgcggaacggctggaacgtcatggacttcgtggtcgtcctcacagggatccttgcc
acggctggaactgacttcgacctgcgaacactgagggctgtgcgtgtgctgaggcccctg
aagctggtgtctgggattccaagtttgcaggtggtgctcaagtccatcatgaaggccatg
gttccactcctgcagattgggctgcttctcttctttgccatcctcatgtttgccatcatt
ggcctggagttctacatgggcaagttccacaaggcctgtttccccaacagcacagatgcg
gagcccgtgggtgacttcccctgtggcaaggaggccccagcccggctgtgcgagggcgac
actgagtgccgggagtactggccaggacccaactttggcatcaccaactttgacaatatc
ctgtttgccatcttgacggtgttccagtgcatcaccatggagggctggactgacatcctc
tataatacaaacgatgcggccggcaacacctggaactggctctacttcatccctctcatc
atcatcggctccttcttcatgctcaacctggtgctgggcgtgctctcgggggagtttgcc
aaggagcgagagagggtggagaaccgccgcgccttcctgaagctgcgccggcagcagcag
atcgagcgagagctcaacgggtacctggagtggatcttcaaggcggaggaagtcatgctg
gccgaggaggacaggaatgcagaggagaagtcccctttggacgtgctgaagagagcggcc
accaagaagagcagaaatgacctgatccacgcagaggagggagaggaccggtttgcagat
ctctgtgctgttggatcccccttcgcccgcgccagcctcaagagcgggaagacagagagc
tcgtcatacttccggaggaaggagaagatgttccggttttttatccggcgcatggtgaag
gctcagagcttctactgggtggtgctgtgcgtggtggccctgaacacactgtgtgtggcc
atggtgcattacaaccagccgcggcggcttaccacgaccctgtattttgcagagtttgtt
ttcctgggtctcttcctcacagagatgtccctgaagatgtatggcctggggcccagaagc
tacttccggtcctccttcaactgcttcgactttggggtcatcgtggggagcgtctttgaa
gtggtctgggcggccatcaagccgggaagctcctttgggatcagtgtgctgcgggccctc
cgcctgctgaggatcttcaaagtcacgaagtactggagctccctgcggaacctggtggtg
tccctgctgaactccatgaagtccatcatcagcctgctcttcttgctcttcctgttcatt
gtggtcttcgccctgctggggatgcagctgtttgggggacagttcaacttccaggatgag
actcccacaaccaacttcgacaccttccctgccgccatcctcactgtcttccagatcctg
acgggagaggactggaatgcagtgatgtatcacgggatcgaatcgcaaggcggcgtcagc
aaaggcatgttctcgtccttttacttcattgtcctgacactgttcggaaactacactctg
ctgaatgtctttctggccatcgctgtggacaacctggccaacgcccaagagctgaccaag
gatgaagaggagatggaagaagcagccaatcagaagcttgctctgcaaaaggccaaagaa
gtggctgaagtcagccccatgtctgccgcgaacatctccatcgccgccaggcagcagaac
tcggccaaggcgcgctcggtgtgggagcagcgggccagccagctacggctgcagaacctg
cgggccagctgcgaggcgctgtacagcgagatggaccccgaggagcggctgcgcttcgcc
actacgcgccacctgcggcccgacatgaagacgcacctggaccggccgctggtggtggag
ctgggccgcgacggcgcgcgggggcccgtgggaggcaaagcccgacctgaggctgcggag
gcccccgagggcgtcgaccctccgcgcaggcaccaccggcaccgcgacaaggacaagacc
cccgcggcgggggaccaggaccgagcagaggccccgaaggcggagagcggggagcccggt
gcccgggaggagcggccgcggccgcaccgcagccacagcaaggaggccgcggggcccccg
gaggcgcggagcgagcgcggccgaggcccaggccccgagggcggccggcggcaccaccgg
cgcggctccccggaggaggcggccgagcgggagccccgacgccaccgcgcgcaccggcac
caggatccgagcaaggagtgcgccggcgccaagggcgagcggcgcgcgcggcaccgcggc
ggcccccgagcggggccccgggaggcggagagcggggaggagccggcgcggcggcaccgg
gcccggcacaaggcgcagcctgctcacgaggctgtggagaaggagaccacggagaaggag
gccacggagaaggaggctgagatagtggaagccgacaaggaaaaggagctccggaaccac
cagccccgggagccacactgtgacctggagaccagtgggactgtgactgtgggtcccatg
cacacactgcccagcacctgtctccagaaggtggaggaacagccagaggatgcagacaat
cagcggaacgtcactcgcatgggcagtcagcccccagacccgaacactattgtacatatc
ccagtgatgctgacgggccctcttggggaagccacggtcgttcccagtggtaacgtggac
ctggaaagccaagcagaggggaagaaggaggtggaagcggatgacgtgatgaggagcggc
ccccggcctatcgtcccatacagctccatgttctgtttaagccccaccaacctgctccgc
cgcttctgccactacatcgtgaccatgaggtacttcgaggtggtcattctcgtggtcatc
gccttgagcagcatcgccctggctgctgaggacccagtgcgcacagactcgcccaggaac
aacgctctgaaatacctggattacattttcactggtgtctttacctttgagatggtgata
aagatgatcgacttgggactgctgcttcaccctggagcctatttccgggacttgtggaac
attctggacttcattgtggtcagtggcgccctggtggcgtttgctttctcaggatccaaa
gggaaagacatcaataccatcaagtctctgagagtccttcgtgtcctgcggcccctcaag
accatcaaacggctgcccaagctcaaggctgtgtttgactgtgtggtgaactccctgaag
aatgtcctcaacatcttgattgtctacatgctcttcatgttcatatttgccgtcattgcg
gtgcagctcttcaaagggaagtttttctactgcacagatgaatccaaggagctggagagg
gactgcaggggtcagtatttggattatgagaaggaggaagtggaagctcagcccaggcag
tggaagaaatacgactttcactacgacaatgtgctctgggctctgctgacgctgttcaca
gtgtccacgggagaaggctggcccatggtgctgaaacactccgtggatgccacctatgag
gagcagggtccaagccctgggtaccgcatggagctgtccatcttctacgtggtctacttt
gtggtctttcccttcttcttcgtcaacatctttgtggctttgatcatcatcaccttccag
gagcagggggacaaggtgatgtctgaatgcagcctggagaagaacgagagggcttgcatt
gacttcgccatcagcgccaaacccctgacacggtacatgccccaaaaccggcagtcgttc
cagtataagacgtggacatttgtggtctccccgccctttgaatacttcatcatggccatg
atagccctcaacactgtggtgctgatgatgaagttctatgatgcaccctatgagtacgag
ctgatgctgaaatgcctgaacatcgtgttcacatccatgttctccatggaatgcgtgctg
aagatcatcgcctttggggtgctgaactatttcagagatgcctggaatgtctttgacttt
gtcactgtgttgggaagtattactgatattttagtaacagagattgcggaaacgaacaat
ttcatcaacctcagcttcctccgcctctttcgagctgcgcggctgatcaagctgctccgc
cagggctacaccatccgcatcctgctgtggacctttgtccagtccttcaaggccctgccc
tacgtgtgtctgctcattgccatgctgttcttcatctacgccatcatcggcatgcaggtg
tttgggaatattgccctggatgatgacaccagcatcaaccgccacaacaacttccggacg
tttttgcaagccctgatgctgctgttcaggagcgccacgggggaggcctggcacgagatc
atgctgtcctgcctgagcaaccaggcctgtgatgagcaggccaatgccaccgagtgtgga
agtgactttgcctacttctacttcgtctccttcatcttcctgtgctcctttctgatgttg
aacctctttgtggctgtgatcatggacaattttgagtacctcacgcgggactcttccatc
ctaggtcctcaccacttggatgagttcatccgggtctgggctgaatacgacccggctgcg
tgtgggcgcatcagttacaatgacatgtttgagatgctgaaacacatgtccccgcctctg
gggctggggaagaaatgccctgctcgagttgcttacaagcgcctggttcgcatgaacatg
cccatctccaacgaggacatgactgttcacttcacgtccacgctgatggccctcatccgg
acggcactggagatcaagctggccccagctgggacaaagcagcatcagtgtgacgcggag
ttgaggaaggagatttccgttgtgtgggccaatctgccccagaagactttggacttgctg
gtaccaccccataagcctgatgagatgacagtggggaaggtttatgcagctctgatgata
ttcgacttctacaagcagaacaaaaccaccagagaccagatgcagcaggctcctggaggc
ctctcccagatgggtcctgtgtccctgttccaccctctgaaggccaccctggagcagaca
cagccggctgtgctccgaggagcccgggttttccttcgacagaagagttccacctccctc
agcaatggcggggccatacaaaaccaagagagtggcatcaaagagtctgtctcctggggc
actcaaaggacccaggatgcaccccatgaggccaggccacccctggagcgtggccactcc
acagagatccctgtggggcggtcaggagcactggctgtggacgttcagatgcagagcata
acccggaggggccctgatggggagccccagcctgggctggagagccagggtcgagcggcc
tccatgccccgccttgcggccgagactcagcccgtcacagatgccagccccatgaagcgc
tccatctccacgctggcccagcggccccgtgggactcatctttgcagcaccaccccggac
cgcccaccccctagccaggcgtcgtcgcaccaccaccaccaccgctgccaccgccgcagg
gacaggaagcagaggtccctggagaaggggcccagcctgtctgccgatatggatggcgca
ccaagcagtgctgtggggccggggctgcccccgggagaggggcctacaggctgccggcgg
gaacgagagcgccggcaggagcggggccggtcccaggagcggaggcagccctcatcctcc
tcctcggagaagcagcgcttctactcctgcgaccgctttgggggccgtgagcccccgaag
cccaagccctccctcagcagccacccaacgtcgccaacagctggccaggagccgggaccc
cacccacagggcagtggttccgtgaatgggagccccttgctgtcaacatctggtgctagc
acccccggccgcggtgggcggaggcagctcccccagacgcccctgactccccgccccagc
atcacctacaagacggccaactcctcacccatccacttcgccggggctcagaccagcctc
cctgccttctccccaggccggctcagccgtgggctttccgaacacaacgccctgctgcag
agagaccccctcagccagcccctggcccctggctctcgaattggctctgacccttacctg
gggcagcgtctggacagtgaggcctctgtccacgccctgcctgaggacactctcactttc
gaggaggctgtggccaccaactcgggccgctcctccaggacttcctacgtgtcctccctg
acctcccagtctcaccctctccgccgcgtgcccaacggttaccactgcaccctgggactc
agctcgggtggccgagcacggcacagctaccaccaccctgaccaagaccactggtgctag

KEGG   Homo sapiens (human): 777
Entry
777               CDS       T01001                                 
Symbol
CACNA1E, BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 E
  KO
K04852  voltage-dependent calcium channel R type alpha-1E
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04930  Type II diabetes mellitus
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    777 (CACNA1E)
   04020 Calcium signaling pathway
    777 (CACNA1E)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    777 (CACNA1E)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    777 (CACNA1E)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   777 (CACNA1E)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 777
NCBI-ProteinID: NP_001192222
OMIM: 601013
HGNC: 1392
Ensembl: ENSG00000198216
UniProt: Q15878 Q59FG1
Structure
LinkDB
Position
1:181317699..181808084
AA seq 2313 aa
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
NT seq 6942 nt   +upstreamnt  +downstreamnt
atggctcgcttcggggaggcggtggtcgccaggccagggtccggcgatggagactcggac
cagagcaggaaccggcaaggaacccccgtgccggcctcggggcaggcggccgcctacaag
cagacgaaagcacagagggcgcggactatggctttgtacaaccccattcccgtccggcag
aactgtttcaccgtcaacagatccctgttcatcttcggagaagataacattgtcaggaaa
tatgccaagaagctcatcgattggccgccatttgagtacatgatcctggccaccatcatt
gccaactgcatcgtcctggccctggagcagcatcttcctgaggatgacaagacccccatg
tcccgaagactggagaagacagaaccttatttcattgggatcttttgctttgaagctggg
atcaaaattgtggccctggggttcatcttccataagggctcttacctccgcaatggctgg
aatgtcatggacttcatcgtggtcctcagtggcatcctggccactgcaggaacccacttc
aatactcacgtggacctgaggaccctccgggctgtgcgtgtcctgcggcctttgaagctc
gtgtcagggatacctagcctgcagattgtgttgaagtccatcatgaaggccatggtacct
cttctgcagattggccttctgctcttctttgccatcctgatgtttgctatcattggtttg
gagttctacagtggcaagttacatcgagcatgcttcatgaacaattcaggtattctagaa
ggatttgacccccctcacccatgtggtgtgcagggctgcccagctggttatgaatgcaag
gactggatcggccccaatgatgggatcacccagtttgataacatcctttttgctgtgctg
actgtcttccagtgcatcaccatggaagggtggaccactgtgctgtacaataccaatgat
gccttaggagccacctggaattggctgtacttcatccccctcatcatcattggatccttc
tttgttctcaacctagtcctgggagtgctttccggggaatttgccaaagagagagagaga
gtggagaaccgaagggctttcatgaagctgcggcgccagcagcagattgagcgtgagctg
aatggctaccgtgcctggatagacaaagcagaggaagtcatgctcgctgaagaaaataaa
aatgctggaacatccgccttagaagtgcttcgaagggcaaccatcaagaggagccggaca
gaggccatgactcgagactccagtgatgagcactgtgttgatatctcctctgtgggcaca
cctctggcccgagccagtatcaaaagtgcaaaggtagacggggtctcttatttccggcac
aaggaaaggcttctgcgcatctccattcgccacatggttaaatcccaggtgttttactgg
attgtgctgagccttgtggcactcaacactgcctgtgtggccattgtccatcacaaccag
ccccagtggctcacccacctcctctactatgcagaatttctgtttctgggactcttcctc
ttggagatgtccctgaagatgtatggcatggggcctcgcctttattttcactcttcattc
aactgctttgattttggggtcacagtgggcagtatctttgaagtggtctgggcaatcttc
agacctggtacgtcttttggaatcagtgtcttgcgagccctccggcttctaagaatattt
aaaataaccaagtattgggcttccctacggaatttggtggtctccttgatgagctcaatg
aagtctatcatcagtttgcttttcctcctcttcctcttcatcgttgtctttgctctccta
ggaatgcagttatttggaggcaggtttaactttaatgatgggactccttcggcaaatttt
gataccttccctgcagccatcatgactgtgttccagatcctgacgggtgaggactggaat
gaggtgatgtacaatgggatccgctcccagggtggggtcagctcaggcatgtggtctgcc
atctacttcattgtgctcaccttgtttggcaactacacgctactgaatgtgttcttggct
atcgctgtggataatctcgccaacgcccaggaactgaccaaggatgaacaggaggaagaa
gaggccttcaaccagaaacatgcactgcagaaggccaaggaggtcagcccgatgtctgca
cccaacatgccttcgatcgaaagagacagaaggagaagacaccacatgtcgatgtgggag
ccacgcagcagccacctgagggagcggaggcgccggcaccacatgtccgtgtgggagcag
cgtaccagccagctgaggaagcacatgcagatgtccagccaggaggccctcaacagagag
gaggcgccgaccatgaacccgctcaaccccctcaacccgctcagctccctcaacccgctc
aatgcccaccccagcctttatcggcgacccagggccattgagggcctggccctgggcctg
gccctggagaagttcgaggaggagcgcatcagccgtggggggtccctcaagggggatgga
ggggaccgatccagtgccctggacaaccagaggacccctttgtccctgggccagcgggag
ccaccatggctggccaggccctgtcatggaaactgtgacccgactcagcaggaggcaggg
ggaggagaggctgtggtgacctttgaggaccgggccaggcacaggcagagccaacggcgc
agccggcatcgccgcgtcaggacagaaggcaaggagtcctcttcagcctcccggagcagg
tctgccagccaggaacgcagtctggatgaagccatgcccactgaaggggagaaggaccat
gagctcaggggcaaccatggtgccaaggagccaacgatccaagaagagagagcccaggat
ttaaggaggaccaacagtctgatggtgtccagaggctccgggctggcaggaggccttgat
gaggctgacacccccctagtcctgccccatcctgagctggaagtggggaagcacgtggtg
ctgacggagcaggagccagaaggcagcagtgagcaggccctgctggggaatgtgcagcta
gacatgggccgggtcatcagccagagcgagcctgacctctcctgcatcacggccaacacg
gacaaggccaccaccgagagcaccagcgtcaccgtcgccatccccgacgtggaccccttg
gtggactcaaccgtggtgcacattagcaacaagacggatggggaagccagtcccttgaag
gaggcagagatcagagaggatgaggaggaggtggagaagaagaagcagaagaaggagaag
cgtgagacaggcaaagccatggtgccccacagctcaatgttcatcttcagcaccaccaac
ccgatccggagggcctgccactacatcgtgaacctgcgctactttgagatgtgcatcctc
ctggtgattgcagccagcagcatcgccctggcggcagaggaccccgtcctgaccaactcg
gagcgcaacaaagtcctgaggtattttgactatgtgttcacgggcgtgttcacctttgag
atggttataaagatgatagaccaaggcttgatcctgcaggatgggtcctacttccgagac
ttgtggaacatcctggactttgtggtggtcgttggcgcattggtggcctttgctctggcg
aacgctttgggaaccaacaaaggacgggacatcaagaccatcaagtctctgcgggtgctc
cgagttctaaggccactgaaaaccatcaagcgcttgcccaagctcaaggccgtcttcgac
tgcgtagtgacctccttgaagaatgtcttcaacatactcattgtgtacaagctcttcatg
ttcatctttgctgtcatcgcagttcagctcttcaagggaaagttcttttattgcacggac
agttccaaggacacagagaaggagtgcataggcaactatgtagatcatgagaaaaacaag
atggaggtgaagggccgggaatggaagcgccatgaattccactacgacaacattatctgg
gccctgctgaccctcttcaccgtctccacaggggaaggatggcctcaagttctgcagcac
tctgtagatgtgacagaggaagaccgaggcccaagccgcagcaaccgcatggagatgtct
atcttttatgtagtctactttgtggtcttccccttcttctttgtcaatatctttgtggct
ctcatcatcatcaccttccaggagcaaggggataagatgatggaggagtgcagcctggag
aagaatgagagggcgtgcatcgacttcgccatcagcgccaaacctctcacccgctacatg
ccgcagaacagacacaccttccagtaccgcgtgtggcactttgtggtgtctccgtccttt
gagtacaccattatggccatgatcgccttgaatactgttgtgctgatgatgaagtattat
tctgctccctgtacctatgagctggccctgaagtacctgaatatcgccttcaccatggtg
ttttccctggaatgtgtcctgaaggtcatcgcttttggctttttgaactatttccgagac
acctggaatatctttgacttcatcaccgtgattggcagtatcacagaaattatcctgaca
gacagcaagctggtgaacaccagtggcttcaatatgagctttctgaagctcttccgagct
gcccgcctcataaagctcctgcgtcagggctataccatacgcattttgctgtggaccttt
gtgcagtcctttaaggccctcccttatgtctgccttttaattgccatgcttttcttcatt
tatgccatcattgggatgcaggtatttggaaacataaaattagacgaggagagtcacatc
aaccggcacaacaacttccggagtttctttgggtccctaatgctactcttcaggagtgcc
acaggtgaggcctggcaggagattatgctgtcatgccttggggagaagggctgtgagcct
gacaccaccgcaccatcagggcagaacgagaacgaacgctgcggcaccgatctggcctac
gtgtactttgtctccttcatcttcttctgctccttcttgatgctcaacctgtttgtggcc
gtcatcatggacaactttgagtacctgactcgggactcctccatcctggggcctcaccac
ttggacgagtttgtccgcgtctgggcagaatatgaccgagcagcatgtggccgcatccat
tacactgagatgtatgaaatgctgactctcatgtcacctccgctaggcctcggcaagaga
tgtccctccaaagtggcatataagaggttggtcctgatgaacatgccagtagctgaggac
atgacggtccacttcacctccacacttatggctctgatccggacagctctggacattaaa
attgccaaaggtggtgcagacaggcagcagctagactcagagctacaaaaggagacccta
gccatctggcctcacctatcccagaagatgctggatctgcttgtgcccatgcccaaagcc
tctgacctgactgtgggcaaaatctatgcagcaatgatgatcatggactactataagcag
agtaaggtgaagaagcagaggcagcagctggaggaacagaaaaatgcccccatgttccag
cgcatggagccttcatctctgcctcaggagatcattgctaatgccaaagccctgccttac
ctccagcaggaccccgtttcaggcctgagtggccggagtggatacccttcgatgagtcca
ctctctccccaggatatattccagttggcttgtatggaccccgccgatgacggacagttc
caagaacggcagtctctggagccagaggttagtgaattaaaaagcgtgcagccctctaac
catggcatctaccttccttcggacacccaggagcatgcgggatctgggagggcatcttct
atgccacgtctgactgtggatccccaggtggtgacagaccctagctccatgagacgttca
ttttccactattcgggataagcgttcaaattcctcgtggttggaggaattctccatggag
cgaagcagtgaaaatacctacaagtcccgtcgccggagttaccactcctccttgcggctg
tcagcccaccgcctgaactctgattcaggccacaagtctgacactcaccgctcagggggc
agggagcggggacgatcaaaagagcgaaagcatcttctctctcctgatgtctcccgctgc
aattcagaagagcgagggacccaggctgactgggagtccccagagcgccgtcaatccagg
tcacccagtgagggcaggtcacagacgcccaacagacagggcacaggttccctaagtgag
agctccatcccctctgtctctgacaccagcaccccaagaagaagtcgtcggcagctccca
cccgtcccgccaaagccccggcccctcctttcctacagctccctgattcgacacgcgggc
agcatctctccacctgctgatggaagcgaggagggctccccgctgacctcccaagctctg
gagagcaacaatgcttgcctgaccgagtcttccaactctccgcacccccagcagagccaa
catgcctccccacagcgctacatctccgagccctacttggccctgcacgaagactcccac
gcctcagactgtggtgaggaggagacgctcactttcgaagcagccgtggctactagcctg
ggccgttccaacaccatcggctcagccccacccctgcggcatagctggcagatgcccaac
gggcactatcggcggcggaggcgcggggggcctgggccaggcatgatgtgtggggctgtc
aacaacctgctaagtgacacggaagaagatgacaaatgctag

KEGG   Homo sapiens (human): 6261
Entry
6261              CDS       T01001                                 
Symbol
RYR1, CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
Name
(RefSeq) ryanodine receptor 1
  KO
K04961  ryanodine receptor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04371  Apelin signaling pathway
hsa04713  Circadian entrainment
hsa04730  Long-term depression
hsa04921  Oxytocin signaling pathway
hsa05017  Spinocerebellar ataxia
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01638  Skeletal-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00699  Central core disease
H01310  Multi-minicore disease
H01810  Congenital myopathy
H02646  Malignant hyperthermia
Drug target
Aladorian (DG02040): D10304 D10305
Surlorian (DG03360): D13172 D13173
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    6261 (RYR1)
   04020 Calcium signaling pathway
    6261 (RYR1)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    6261 (RYR1)
  09156 Nervous system
   04730 Long-term depression
    6261 (RYR1)
  09159 Environmental adaptation
   04713 Circadian entrainment
    6261 (RYR1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6261 (RYR1)
   05020 Prion disease
    6261 (RYR1)
   05022 Pathways of neurodegeneration - multiple diseases
    6261 (RYR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6261 (RYR1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    6261 (RYR1)
   04040 Ion channels [BR:hsa04040]
    6261 (RYR1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     6261 (RYR1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6261 (RYR1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ryanodine receptor
   6261 (RYR1)
SSDB
Motif
Pfam: RYDR_Jsol RYDR_ITPR RyR RR_TM4-6 SPRY Ins145_P3_rec MIR RIH_assoc Ion_trans EF-hand_7 TELO2_ARM
Other DBs
NCBI-GeneID: 6261
NCBI-ProteinID: NP_000531
OMIM: 180901
HGNC: 10483
Ensembl: ENSG00000196218
UniProt: P21817
Structure
LinkDB
Position
19:38433691..38587564
AA seq 5038 aa
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD
LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL
TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH
LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ
RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA
PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE
GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS
TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK
WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL
WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV
SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM
SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL
VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY
TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR
PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED
EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT
EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA
GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV
IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG
ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE
TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK
QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE
GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL
IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA
HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG
QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES
KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV
IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF
VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL
VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD
SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP
LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE
YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE
WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE
NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD
APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART
QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN
TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC
PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR
AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK
AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY
ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA
WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY
LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV
LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV
FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK
DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV
TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF
NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD
EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL
RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL
AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV
TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF
YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR
KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE
LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF
RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT
FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT
LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS
NT seq 15117 nt   +upstreamnt  +downstreamnt
atgggtgacgcagaaggcgaagacgaggtccagttcctgcggacggacgatgaggtggtc
ctgcagtgcagcgctaccgtgctcaaggagcagctcaagctctgcctggccgccgagggc
ttcggcaaccgcctgtgcttcctggagcccactagcaacgcgcagaatgtgccccccgat
ctggccatctgttgcttcgtcctggagcagtccctgtctgtgcgagccctgcaggagatg
ctggctaacacggtggaggctggcgtggagtcatcccagggcgggggacacaggacgctc
ctgtatggccatgccatcctgctccggcatgcacacagccgcatgtatctgagctgcctc
accacctcccgctccatgactgacaagctggccttcgatgtgggactgcaggaggacgca
acaggagaggcttgctggtggaccatgcacccagcctccaagcagaggtctgaaggagaa
aaggtccgcgttggggatgacatcatccttgtcagtgtctcctccgagcgctacctgcac
ctgtcgaccgccagtggggagctccaggttgacgcttccttcatgcagacactatggaac
atgaaccccatctgctcccgctgcgaagagggcttcgtgacgggaggtcacgtcctccgc
ctctttcatggacatatggatgagtgtctgaccatttcccctgctgacagtgatgaccag
cgcagacttgtctactatgaggggggagctgtgtgcactcatgcccgctccctctggagg
ctggagccactgagaatcagctggagtgggagccacctgcgctggggccagccactccga
gtccggcatgtcactaccgggcagtacctagcgctcaccgaggaccagggcctggtggtg
gttgacgccagcaaggctcacaccaaggctacctccttctgcttccgcatctccaaggag
aagctggatgtggcccccaagcgggatgtggagggcatgggcccccctgagatcaagtac
ggggagtcactgtgcttcgtgcagcatgtggcctcaggactgtggctcacctatgctgct
ccagaccccaaggccctgcggctcggcgtgctcaagaagaaggccatgctgcaccaggag
ggccacatggacgacgcactgtcgctgacccgctgccagcaggaggagtcccaggccgcc
cgcatgatccacagcaccaatggcctatacaaccagttcatcaagagcctggacagcttc
agcgggaagccacggggctcggggccacccgctggcacggcgctgcccatcgagggcgtt
atcctgagcctgcaggacctcatcatctacttcgagcctccctccgaggacttgcagcac
gaggagaagcagagcaagctgcgaagcctgcgcaaccgccagagcctcttccaggaggag
gggatgctctccatggtcctgaattgcatagaccgcctaaatgtctacaccactgctgcc
cactttgctgagtttgcaggggaggaggcagccgagtcctggaaagagattgtgaatctt
ctctatgaactcctagcttctctaatccgtggcaatcgtagcaactgtgccctcttctcc
acaaacttggactggctggtcagcaagctggatcggctggaggcctcgtctggcatcctg
gaggtcctgtactgtgtcctcattgagagtccagaggttctgaacatcatccaggagaat
cacatcaagtccatcatctccctcctggacaagcatgggaggaaccacaaggtcctggac
gtgctatgctccctgtgtgtgtgtaatggtgtggctgtacgctccaaccaagatcttatt
actgagaacttgctgcctggccgtgagcttctgctgcagacaaacctcatcaactatgtc
accagcatccgccccaacatctttgtgggccgagcggaaggcaccacgcagtacagcaaa
tggtactttgaggtgatggtggacgaggtgactccatttctgacagctcaggccacccac
ttgcgggtgggctgggccctcaccgagggctacaccccctaccctggggccggcgagggc
tggggcggcaacggggtcggcgatgacctctattcctacggctttgatggactgcatctc
tggacaggacacgtggcacgcccagtgacttccccagggcagcacctcctggcccctgaa
gacgtgatcagctgctgcctggacctcagcgtgccgtccatctccttccgcatcaacggc
tgccccgtgcagggtgtctttgagtccttcaacctggacgggctcttcttccctgttgtc
agcttctcggctggtgtcaaggtgcggttcctccttggtggccgccatggtgaattcaag
ttcctgcccccacctggctatgctccatgccatgaggctgtgctccctcgagagcgactc
catcttgaacccatcaaggagtatcgacgggaggggccccgggggcctcacctggtgggc
cccagtcgctgcctctcacacaccgacttcgtgccctgccctgtggacactgtccagatt
gtcctgccgccccatctggagcgcattcgggagaagctggcggagaacatccacgagctc
tgggcgctaacccgcatcgagcagggctggacctacggcccggttcgggatgacaacaag
aggctgcacccgtgtcttgtggacttccacagccttccagagcctgagaggaactacaac
ctgcagatgtctggggagacgctcaagactctgctggctctgggctgccacgtgggcatg
gcggatgagaaggcggaggacaacctgaagaagacaaaactccccaagacgtatatgatg
agcaatgggtacaagccggctccgctggacctgagccacgtgcggctgacgccggcgcag
acgacactggtggaccgtctggcagaaaatgggcacaacgtgtgggcccgagaccgcgtg
ggccagggctggagctacagcgcagtgcaggacatcccagcgcgccgaaaccctcggctg
gtgccctaccgcctgctggatgaagccaccaagcgcagcaaccgggacagcctctgccag
gccgtgcgcaccctcctgggctacggctacaacatcgagcctcctgaccaggagcccagt
caggtggagaaccagtctcgttgtgaccgggtgcgcatcttccgggcagagaaatcctat
acagtgcagagcggccgctggtacttcgagtttgaagcagtcaccacaggcgagatgcgc
gtgggctgggcgaggcccgagctgaggcctgatgtagagctgggagctgacgagctggcc
tatgtcttcaatgggcaccgcggccagcgctggcacttgggcagtgaaccatttgggcgc
ccctggcagccgggcgatgtcgttggctgtatgatcgacctcacagagaacaccattatc
ttcaccctcaatggcgaggtcctcatgtctgactcaggctccgaaacagccttccgggag
attgagattggggacggcttcctgcccgtctgcagcttgggacctggccaggtgggtcat
ctgaacctgggccaggacgtgagctctctgaggttctttgccatctgtggcctccaggaa
ggcttcgagccatttgccatcaacatgcagcgcccagtcaccacctggttcagcaaaggc
ctgccccagtttgagccagtgccccttgaacaccctcactatgaggtatcccgagtggac
ggcactgtggacacgcccccctgcctgcgcctgacccaccgcacctggggctcccagaac
agcctggtggagatgcttttcctgcggctgagcctcccagtccagttccaccagcacttc
cgctgcactgcaggggccaccccgctggcacctcctggcctgcagccccccgccgaggac
gaggcccgggcggcggaacccgaccctgactacgaaaacctgcgccgctcagctgggggc
tggagcgaggcagagaacggcaaagaagggactgcgaaggagggcgcccccgggggcacc
ccgcaggcggggggagaggcgcagcccgccagggcggagaatgagaaggatgccaccacc
gagaagaacaagaagagaggcttcttattcaaggccaagaaggtcgccatgatgacccag
ccaccggccacccccacgctgccccgactccctcacgacgtggtgcctgcagacaaccgc
gatgaccccgagatcatcctcaacaccaccacgtactattactccgtgagggtctttgct
ggacaggagcccagctgcgtgtgggcgggctgggtcacccctgactaccatcagcacgac
atgagcttcgacctcagcaaggtccgggtcgtgacggtgaccatgggggatgaacaaggc
aacgtccacagcagcctcaagtgtagcaactgctacatggtgtggggcggagactttgtg
agtcccgggcagcagggccggatcagccacacggaccttgtcattgggtgcctggtggac
ttggccactggcttaatgacctttacagccaatggcaaagagagcaacacctttttccag
gtggaacccaacactaagctatttcctgccgtcttcgtcctgcccacccaccagaacgtc
atccagtttgagctggggaagcagaagaacatcatgccgttgtcagccgccatgttccaa
agcgagcgcaagaacccggccccgcagtgcccaccgcggctggagatgcagatgctgatg
ccagtgtcctggagccgcatgcccaaccacttcctgcaggtggagacgaggcgtgccggc
gagcggctgggctgggccgtgcagtgccaggagccgctgaccatgatggcgctgcacatc
cccgaggagaaccggtgcatggacatcctggagctgtcggagcgcctggacctgcagcgc
ttccactcgcacaccctgcgcctctaccgcgctgtgtgcgccctgggcaacaatcgcgtg
gcgcacgctctgtgcagccacgtagaccaagctcagctgctgcacgccctggaggacgcg
cacctgccaggcccactgcgcgcaggctactatgacctcctcatcagcatccacctcgaa
agtgcctgccgcagccgccgctccatgctctctgaatacatcgtgcccctcacgcctgag
acccgcgccatcacgctcttccctcctggaaggagcacagaaaatggtcacccccggcat
ggcctgccgggagttggagtcaccacttcgctgaggcccccgcatcatttctcgcccccc
tgtttcgtggccgctctgccagctgctggggcagcagaggccccggcccgcctcagccct
gccatcccgctggaggccctgcgggacaaggcactgaggatgctgggggaggcggtgcgc
gacggtgggcagcacgctcgcgaccccgtcgggggctccgtggagttccagtttgtgcct
gtgctcaagctcgtgtccaccctgctggtgatgggcatctttggcgatgaggatgtgaaa
cagatcttgaagatgattgagcctgaggtcttcactgaggaagaagaggaggaggacgag
gaggaagagggtgaagaggaagatgaggaggagaaggaggaggatgaggaggaaacagca
caggaaaaggaagatgaggaaaaagaggaagaggaggcagcagaaggggagaaagaagaa
ggcttggaggaagggctgctccagatgaagttgccagagtctgtgaagttacagatgtgc
cacctgctggagtatttctgtgaccaagagctgcagcaccgtgtggagtccctggcagcc
tttgcggagcgctatgtggacaagctccaggccaaccagcggagccgctatggcctcctc
ataaaagccttcagcatgaccgcagcagagactgcaagacgtacccgcgagttccgctcc
ccaccccaggaacagatcaatatgctattgcaattcaaagatggtacagatgaggaagac
tgtcctctccctgaagagattcgacaggatttgcttgactttcatcaagacctgctggca
cactgtggaattcagctagatggagaggaggaggaaccagaggaagagaccaccctgggc
agccgcctcatgagcctgttggagaaagtgcggctggtgaagaagaaggaagagaaacct
gaggaggagcggtcagcagaggagagcaaaccccggtccctgcaggagctggtgtcccac
atggtggtgcgctgggcccaagaggacttcgtgcagagccccgagctggtgcgggccatg
ttcagcctcctgcaccggcagtacgacgggctgggtgagctgctgcgtgccctgccgcgg
gcgtacaccatctcaccgtcctccgtggaagacaccatgagcctgctcgagtgcctcggc
cagatccgctcgctgctcatcgtgcagatgggcccccaggaggagaacctcatgatccag
agcatcgggaacatcatgaacaacaaagtcttctaccaacacccgaacctgatgagggcg
ctgggcatgcacgagacggtcatggaggtcatggtcaacgtcctcgggggcggcgagtcc
aaggagatccgcttccccaagatggtgacaagctgctgccgcttcctctgctatttctgc
cgaatcagccggcagaaccagcgctccatgtttgaccacctgagctacctgctggagaac
agtggcatcggcctgggcatgcagggctccacgcccctggacgtggctgctgcctccgtc
attgacaacaatgagctggccttggcattgcaggagcaggacctggaaaaggttgtgtcc
tacctggcaggctgtggcctccagagctgccccatgcttgtggccaaagggtacccagac
attggctggaacccctgtggtggagagcgctacctggacttcctgcgctttgctgtcttc
gtcaacggcgagagcgtggaggagaacgccaatgtggtggtgcggctgctcatccggaag
cctgagtgcttcggacccgccctgcggggtgagggtggctcagggctgctggctgccatc
gaagaggccatccgcatctccgaggaccctgcgagggatggcccaggcatccgcagggac
cggcggcgcgagcactttggtgaggaaccgcctgaagaaaaccgggtgcacctgggacac
gccatcatgtccttctatgccgccttgatcgacctgctcggacgctgtgcaccagagatg
catctaatccaagccggcaagggtgaggccctgcggatccgcgccatcctccgctccctt
gtgcccttggaggaccttgtgggcatcatcagcctcccactgcagattcccaccctgggc
aaagatggggctctggtgcagccaaagatgtcagcatccttcgtgccggaccacaaggcg
tccatggtgctcttcctggaccgtgtgtatggcatcgagaaccaggacttcttgctgcac
gtgctggacgtggggttcctgcccgacatgagggcagccgcctcgctggacacggccact
ttcagcaccaccgagatggcgctggcgctgaaccgctacctgtgcctggccgtgctgccg
ctcatcaccaagtgtgcgccgctctttgcgggcacagaacaccgcgccatcatggtggac
tctatgctgcataccgtgtaccgcctgtctcggggtcgttcgctcaccaaggcgcagcgt
gacgtcatcgaggactgcctcatgtcgctctgcaggtacatccgcccgtcgatgctgcag
cacctgttgcgccgcctggtgttcgacgtgcccatcctcaacgagttcgccaagatgcca
ctcaagctcctcaccaaccactatgagcgctgttggaagtactactgcctacccacgggc
tgggccaacttcggggtcacctcagaggaggagctgcacctcacacggaaactcttctgg
ggcatctttgactctctggcccataagaaatacgacccggagctgtaccgcatggccatg
ccttgtctgtgcgccattgccggggctctgccccccgactatgtggatgcctcatactca
tctaaggcagagaaaaaggccacagtggatgctgaaggcaactttgatccccggcctgtg
gagaccctcaatgtgatcatcccggagaagctggactccttcattaacaagtttgcggag
tacacacacgagaagtgggccttcgacaagatccagaacaactggtcctatggagagaac
atagacgaggagctgaagacccaccccatgctgaggccctacaagaccttttcagagaag
gacaaagagatttaccgctggcccatcaaggagtccctgaaggccatgattgcctgggaa
tggacgatagagaaggccagggagggtgaggaggagaagacggaaaagaaaaaaacgcgg
aagatatcacaaagtgcccagacctatgatcctcgagaaggctacaaccctcagcccccc
gaccttagtgctgttaccctgtcccgggagctgcaggccatggcagaacaactggcagaa
aattaccacaacacgtggggacggaagaagaagcaggagctggaagccaaaggcggtggg
acccaccccctgctggtcccctacgacacgctcacggccaaggagaaggcacgagatcga
gagaaggcccaggagctactgaaattcctgcagatgaatggctacgcggttacaagaggc
cttaaggacatggaactggactcgtcttccattgaaaagcggtttgcctttggcttcctg
cagcagctgctgcgctggatggacatttctcaggagttcattgcccacctggaggctgtg
gtcagcagtgggcgagtggaaaagtccccacatgaacaggagattaaattctttgccaag
atcctgctccctttgatcaaccagtacttcaccaaccactgcctctatttcttgtccact
ccggctaaagtgctgggcagcggtggccacgcctctaacaaggagaaggaaatgatcacc
agcctcttctgcaaacttgctgctctcgtccgccaccgagtctctctctttgggacagac
gccccagctgtggtcaactgtcttcacatcctggcccgctccctggatgccaggacagtg
atgaagtcaggccctgagatcgtgaaggctggcctccgctccttcttcgagagtgcctcg
gaggacatcgagaagatggtggagaacctgcggctgggcaaggtgtcgcaggcgcgcacc
caggtgaaaggcgtgggccagaacctcacctacaccactgtggcactgctgccggtcctc
accaccctcttccagcacatcgcccagcaccagttcggagatgacgtcatcctggacgac
gtccaggtctcttgctaccgaacgctgtgcagtatctactccctgggaaccaccaagaac
acttatgtggaaaagcttcggccagccctcggggagtgcctggcccgtctggcagcagcc
atgccggtggcgttcctggagccgcagctgaacgagtacaacgcctgctccgtgtacacc
accaagtctccgcgggagcgggccatcctggggctccccaacagtgtggaggagatgtgt
cccgacatcccggtgctggagcggctcatggcagacattggggggctggccgagtcaggt
gcccgctacacagagatgccgcatgtcatcgagatcacgctgcccatgctatgcagctac
ctgccccgatggtgggagcgcgggcccgaggcacccccttccgccctgcccgccggcgcc
cccccaccctgcacagctgtcacctctgaccacctcaactccctgctggggaatatcctg
agaatcatcgtcaacaacctgggcattgacgaggcctcctggatgaagcggctggctgtg
ttcgcacagcccattgtgagccgtgcacggccggagctcctgcagtcccacttcatccca
actatcgggcggctgcgcaagagggcagggaaggtggtgtccgaggaggagcagctgcgc
ctggaggccaaggcggaggcccaggagggcgagctgctggtgcgggacgagttctctgtg
ctctgccgggacctctacgccctgtatccgctgctcatccgctacgtggacaacaacagg
gcgcagtggctgacggagccgaatcccagcgcggaggagctgttcaggatggtgggcgag
atcttcatctactggtccaagtcccacaacttcaagcgcgaggagcagaactttgtggtc
cagaatgagatcaacaacatgtccttcctgactgctgacaacaaaagcaaaatggctaag
gcgggagatatacagtccggtggctcggaccaggaacgcaccaagaagaagcgccggggg
gaccggtactctgtgcagacgtcactgatcgtggccacactgaagaagatgctgcccatc
ggcctgaatatgtgtgcgcccaccgaccaagacctcatcacgctggccaagacccgttac
gccctgaaagacacagatgaggaggtccgggaatttctgcacaacaaccttcaccttcag
ggaaaggtcgaaggctccccgtctctgcgctggcagatggctctgtaccggggcgtcccg
ggtcgcgaggaggacgccgatgaccccgagaaaatcgtgcgcagagtccaggaagtgtca
gccgtgctctactacctggaccagaccgagcacccttacaagtctaagaaggccgtgtgg
cacaagcttttgtccaaacagcgccggcgggcagtcgtggcctgtttccgtatgacgccc
ctgtacaacctgcccacgcaccgggcatgtaacatgttcctggagagctacaaggctgca
tggatcctgactgaagaccacagttttgaggaccgcatgatagatgacctttcaaaagct
ggggagcaggaggaggaggaggaagaggtggaagagaagaagccagaccccctgcaccag
ttggtcctgcacttcagccgcactgccctgacggaaaagagcaaactggatgaggattac
ctgtacatggcctatgctgatatcatggcaaagagctgccacctggaggagggaggggag
aacggtgaagctgaagaggaggttgaggtctcctttgaggagaaacagatggagaagcag
aggctcttgtaccagcaagcacggctgcacacccggggggcggccgagatggtgctgcag
atgatcagtgcctgcaaaggagagacaggtgccatggtgtcctccaccctgaagctgggc
atctccatcctcaatggaggcaatgctgaggtccagcagaaaatgctggattatcttaag
gacaagaaggaagttggcttcttccagagtatccaggcactgatgcaaacatgcagcgtc
ctggatctcaatgcctttgagagacagaacaaggccgaggggctgggcatggtgaatgag
gatggcactgtcatcaatcgccagaacggagagaaggtcatggcggatgatgaattcaca
caagacctgttccgattcctacaattgctctgtgaggggcacaataatgatttccagaac
tacctacggacacagacagggaacacgaccactattaacatcatcatttgcactgtggac
tacctcctgcggctgcaggaatccatcagcgacttctactggtactactcgggcaaggat
gtcattgaagagcagggcaagaggaacttctccaaagccatgtcggtggctaagcaggtg
ttcaacagcctcactgagtacatccagggtccctgcaccgggaaccagcagagcctggcg
cacagtcgcctatgggacgcagtggtgggattcctgcacgtgttcgcccacatgatgatg
aagctcgctcaggactcaagccagatcgagctgctgaaggagctgctggatctgcagaag
gacatggtggtgatgttgctgtcgctactagaagggaacgtggtgaacggcatgatcgcc
cggcagatggtggacatgctcgtggaatcctcatccaatgtggagatgatcctcaagttc
ttcgacatgttcctgaaactcaaggacattgtgggctctgaagccttccaggactacgta
acggatccccgtggcctcatctccaagaaggacttccagaaggccatggacagccagaag
cagttcagcggtccagaaatccagttcctgctttcgtgctccgaagcggatgagaacgaa
atgatcaactgcgaagagttcgccaaccgcttccaggagccagcacgcgacatcggcttc
aacgtggcggtgctgctgaccaacctgtcggagcatgtgccgcatgaccctcgcctgcac
aacttcctggagctggccgagagcatccttgagtacttccgcccctacctgggccgcatc
gagatcatgggcgcgtcacgccgcatcgagcgcatctacttcgagatctcagagaccaac
cgcgcccagtgggagatgccccaggtgaaggagtccaagcgccagttcatcttcgacgtg
gtgaacgagggcggcgaggctgagaagatggagctcttcgtgagtttctgcgaggacacc
atcttcgagatgcagatcgccgcgcagatctcggagcccgagggcgagccggagaccgac
gaggacgagggcgcgggcgcggcggaggcgggcgcggaaggcgcggaggagggcgcggcg
gggctcgagggcacggcggccacggcggcggcgggggcgacggcgcgggttgtggcggcc
gcaggccgggccctgcgaggcctcagctaccgcagcctgcggcggcgcgtgcggcggctg
cggcggcttacggcccgcgaggcggccaccgcagtggcggcgctgctctgggcagcagtg
acgcgcgctggggccgctggcgcgggggcggcggcgggcgcgctgggcctgctctggggc
tcgctgttcggcggcggcctggtggagggcgccaagaaggtgacggtgaccgagctcctg
gcaggcatgcccgaccccaccagcgacgaggtgcacggcgagcagccggccgggccgggc
ggagacgcagacggcgagggtgccagcgagggcgctggagacgccgcggagggcgctgga
gacgaggaggaggcggtgcacgaggccgggccgggcggtgccgacggggcggtggccgtg
accgatgggggccccttccggcccgaaggggctggcggtctcggggacatgggggacacg
acgcctgcggaaccgcccacacccgagggctctcccatcctcaagaggaaattgggggtg
gatggagtggaggaggagctcccgccagagccagagcccgagccggaaccagagctggag
ccggagaaagccgatgccgagaatggggagaaggaagaagttcccgagcccacaccagag
ccccccaagaagcaagcacctccctcaccccctccaaagaaggaggaagctggaggcgaa
ttctggggagaactggaggtgcagagggtgaagttcctgaactacctgtcccggaacttt
tacaccctgcggttccttgccctcttcttggcatttgccatcaacttcatcttgctgttt
tataaggtctcagactctccaccaggggaggacgacatggaaggctcagctgctggggat
gtgtcaggtgcaggctctggtggcagctctggctggggcttgggggccggagaggaggca
gagggcgatgaggatgagaacatggtgtactacttcctggaggaaagcacaggctacatg
gaacccgccctgcggtgtctgagcctcctgcatacactggtggcctttctctgcatcatt
ggctataattgtctcaaggtgcccctggtaatctttaagcgggagaaggagctggcccgg
aagctggagtttgatggcctgtacatcacggagcagcctgaggacgatgacgtgaagggg
cagtgggaccgactggtgctcaacacgccgtctttccctagcaactactgggacaagttt
gtcaagcgcaaggtcctggacaaacatggggacatctacgggcgggagcggattgctgag
ctactgggcatggacctggccacactagagatcacagcccacaatgagcgcaagcccaac
ccgccgccagggctgctgacctggctcatgtccatcgatgtcaagtaccagatctggaag
ttcggggtcatcttcacagacaactccttcctgtacctgggctggtatatggtgatgtcc
ctcttgggacactacaacaacttcttctttgctgcccatctcctggacatcgccatgggg
gtcaagacgctgcgcaccatcctgtcctctgtcacccacaatgggaaacagctggtgatg
accgtgggccttctggcggtggtcgtctacctgtacaccgtggtggccttcaacttcttc
cgcaagttctacaacaagagcgaggatgaggatgaacctgacatgaagtgtgatgacatg
atgacgtgttacctgtttcacatgtacgtgggtgtccgggctggcggaggcattggggac
gagatcgaggaccccgcgggtgacgaatacgagctctacagggtggtcttcgacatcacc
ttcttcttcttcgtcatcgtcatcctgttggccatcatccagggtctgatcatcgacgct
tttggtgagctccgagaccaacaagagcaagtgaaggaggatatggagaccaagtgcttc
atctgtggaatcggcagtgactactttgatacgacaccgcatggcttcgagactcacacg
ctggaggagcacaacctggccaattacatgtttttcctgatgtatttgataaacaaggat
gagacagaacacacgggtcaggagtcttatgtctggaagatgtaccaagagagatgttgg
gatttcttcccagctggtgattgtttccgtaagcagtatgaggaccagcttagctga

KEGG   Homo sapiens (human): 6262
Entry
6262              CDS       T01001                                 
Symbol
RYR2, ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP
Name
(RefSeq) ryanodine receptor 2
  KO
K04962  ryanodine receptor 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04371  Apelin signaling pathway
hsa04713  Circadian entrainment
hsa04911  Insulin secretion
hsa04921  Oxytocin signaling pathway
hsa04972  Pancreatic secretion
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05415  Diabetic cardiomyopathy
Network
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01639  Cardiac-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H01019  Catecholaminergic polymorphic ventricular tachycardia
H02848  Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Drug target
Aladorian (DG02040): D10304 D10305
Surlorian (DG03360): D13172 D13173
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    6262 (RYR2)
   04020 Calcium signaling pathway
    6262 (RYR2)
   04024 cAMP signaling pathway
    6262 (RYR2)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    6262 (RYR2)
   04921 Oxytocin signaling pathway
    6262 (RYR2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    6262 (RYR2)
   04261 Adrenergic signaling in cardiomyocytes
    6262 (RYR2)
  09154 Digestive system
   04972 Pancreatic secretion
    6262 (RYR2)
  09159 Environmental adaptation
   04713 Circadian entrainment
    6262 (RYR2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05020 Prion disease
    6262 (RYR2)
   05022 Pathways of neurodegeneration - multiple diseases
    6262 (RYR2)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6262 (RYR2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6262 (RYR2)
   05414 Dilated cardiomyopathy
    6262 (RYR2)
   05415 Diabetic cardiomyopathy
    6262 (RYR2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6262 (RYR2)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    6262 (RYR2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ryanodine receptor
   6262 (RYR2)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EF-hand domain-containing proteins
  Other EF-hand domain-containing proteins
   6262 (RYR2)
SSDB
Motif
Pfam: RYDR_Jsol RYDR_ITPR RyR RR_TM4-6 SPRY Ins145_P3_rec MIR RIH_assoc Ion_trans EF-hand_7 EF-hand_1 EF-hand_6 EF-hand_8
Other DBs
NCBI-GeneID: 6262
NCBI-ProteinID: NP_001026
OMIM: 180902
HGNC: 10484
Ensembl: ENSG00000198626
UniProt: Q92736
Structure
LinkDB
Position
1:237042184..237833988
AA seq 4967 aa
MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP
DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL
LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD
LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH
MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV
TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV
CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR
STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR
ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL
IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL
LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF
LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD
DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE
NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY
KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL
GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK
VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI
QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG
TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF
KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG
FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ
VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG
GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK
PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN
VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR
NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI
KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ
CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV
DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP
DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK
EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE
SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH
RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK
DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK
KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR
ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN
LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY
LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML
VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG
NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG
RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF
CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL
CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL
RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL
SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY
KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG
YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK
EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI
LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE
KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF
LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED
LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI
YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP
MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA
VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT
TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV
VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI
CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD
TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV
ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR
VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME
KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY
LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF
RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE
QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ
DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF
LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY
EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG
SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM
QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS
LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE
GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF
GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE
KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY
NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV
LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ
PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS
DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA
AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA
IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF
FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN
NT seq 14904 nt   +upstreamnt  +downstreamnt
atggccgatgggggcgagggcgaagacgagatccagttcctgcgaactgatgatgaagtg
gttctgcagtgcaccgcaaccatccacaaagaacaacagaagctatgcttggcagcagaa
ggatttggcaacagactttgtttcttggagtccacttccaattccaagaatgtgccccca
gacctctccatctgcacctttgtgctggagcagtccctctctgtccgggcgctgcaggag
atgctggctaacaccgtggagaaatcagaagggcaagttgatgtggaaaaatggaaattc
atgatgaagactgctcaaggtggtggtcatcgaacactcctctacggacatgccatattg
ctgcgccattcctatagtggcatgtatctgtgctgcctgtccacctcccggtcttcaact
gataagctggcttttgatgttggcttgcaagaggacaccacaggggaggcttgttggtgg
accatacaccctgcctctaagcagcgatcagaaggagaaaaagtacgagttggagatgac
ctcatcttagttagcgtgtcctctgaaaggtacttgcacttgtcttatggcaacggcagc
ttacacgtggatgccgctttccagcagactctctggagcgtggccccaatcagctcagga
agtgaggcagcccaagggtatctcattggtggtgatgtcctcaggttgctgcatggacac
atggacgagtgtctcactgtcccttcaggagaacatggtgaagagcagcggagaactgtt
cattatgaaggtggcgctgtgtctgttcatgcacgttccctttggagactagagacgcta
agagttgcgtggagtggaagccacataagatggggacagccattccgactacgccatgtc
acaacaggaaaatacttgagtctcatggaagacaaaaaccttctactcatggacaaagag
aaagctgatgtaaaatcaacagcatttaccttccggtcttccaaggaaaaattggatgta
ggggtgagaaaagaagtagatggcatgggaacatctgaaataaaatacggtgactcagta
tgctatatacaacatgtagacacaggcctatggcttacttaccagtctgtggacgtgaaa
tccgtgagaatgggatctatacaacgtaaggctattatgcatcatgaaggccacatggat
gatggcataagtttgtcgagatcccagcatgaagaatcacgcacagcccgagttatccgg
agcacagtcttccttttcaatagatttataaggggccttgatgctctcagcaagaaagcg
aaggcttccacagtcgatttgcctatagagtccgtaagcctaagtctgcaggatctcatt
ggctacttccaccccccagatgagcatttagagcatgaagacaaacagaacagactacga
gccctgaagaatcggcaaaatctcttccaggaagagggaatgatcaacctcgtgcttgag
tgcatagaccgtttgcacgtctacagcagtgcagcacactttgctgatgttgctgggcga
gaagcaggagagtcttggaaatccattctgaattctctgtatgagttgctggcggctcta
attagaggaaatcgtaaaaactgtgctcaattttctggctccctcgactggttgatcagc
agattggaaagactggaagcttcttcaggcattctggaagttttacactgtgttttagta
gaaagtccagaagctctaaatattattaaagaaggacatattaaatctattatctcactt
ttagacaaacatggaagaaatcacaaggttctggatgtcttgtgctcactctgtgtttgc
cacggggttgcagtccgttctaaccagcatctcatctgtgacaatctcctaccaggaaga
gacttgttattgcagacacgtcttgtgaaccatgtcagcagcatgagacccaatattttt
ctgggcgtcagtgaaggttctgctcagtataagaaatggtactatgaattgatggtggac
cacacagagccctttgtgacagctgaagcaactcacctgcgagtgggctgggcttccact
gaaggatattctccctaccctggagggggcgaagagtggggtggaaatggtgttggagat
gatctcttctcctatggatttgatggccttcatctctggtcaggttgtattgctcgtact
gtaagctcaccaaaccaacatctgttaagaactgatgatgtcatcagttgctgtttagat
ctgagtgccccaagcatctcgttccgaattaatggacaacctgttcaaggaatgtttgag
aatttcaacatcgatggcctcttctttccagtcgttagtttctctgcaggaataaaagta
cgctttctgcttggagggcgacatggagaattcaaatttcttcctccacctgggtatgct
ccttgttatgaagctgttctgccaaaagaaaagttgaaagtggaacacagccgagagtac
aagcaagaaagaacttacacacgcgacctgctgggccccacagtttccctgacgcaagct
gccttcacacccatccctgtggataccagccagatcgtgttgcctcctcatctagaaaga
ataagagaaaaactggcagagaatatccatgaactctgggttatgaataaaattgagctt
ggctggcagtatggtccggttagagatgacaacaagagacaacacccatgcctggtggag
ttctccaagctgcctgaacaggagcgcaattacaacttacaaatgtcgcttgagaccctg
aagactttgttggcattaggatgtcatgtgggtatatcagatgaacatgctgaagacaag
gtgaaaaaaatgaagctacccaagaattaccagctgacaagtggatacaagcctgcccct
atggacctgagctttatcaaactcaccccatcacaagaagcaatggtggacaagttggca
gaaaatgcacataatgtgtgggcgcgggatcgaatccggcagggctggacttatggcatc
caacaggacgtaaagaacagaagaaatcctcgccttgttccctacactcttctggatgac
cgaaccaagaaatccaacaaggacagcctccgcgaggctgtgcgcacgctgctggggtac
ggctacaacttggaagcaccagatcaagatcatgcagccagagccgaagtgtgcagcggc
accggggaaaggttccgaatcttccgtgccgagaagacctatgcagtgaaggccggacgg
tggtattttgaatttgagacggtcactgctggagacatgagggttggttggagtcgtcct
ggttgtcaaccggatcaggagcttggctcagatgaacgtgcctttgcctttgatggcttc
aaggcccagcggtggcatcagggcaatgaacactatgggcgctcttggcaagcaggcgat
gtcgtggggtgtatggttgacatgaacgaacacaccatgatgttcacactgaatggtgaa
atccttcttgatgattcaggctcagaactggctttcaaggactttgatgttggcgatgga
ttcatacctgtgtgtagccttggagtggctcaagtgggtaggatgaactttggaaaggat
gtcagcaccttgaaatatttcaccatctgtggcttacaagagggctatgaaccatttgcc
gttaatacaaacagggatattaccatgtggctgagcaagaggcttcctcagtttcttcaa
gttccatcaaaccatgaacatatagaggtgaccagaatagacggcaccatagacagttcc
ccatgtttaaaggtcactcagaagtcttttggttctcagaacagcaacactgatatcatg
ttttatcgcctgagcatgccgatcgagtgcgcggaggtcttctccaagacggtggctgga
gggctccctggggctggcctttttgggcccaagaatgacttggaagattatgatgctgat
tctgactttgaggttctgatgaagacagctcatggccatctagtgcccgatcgtgttgac
aaagacaaagaagctactaaaccagagtttaacaaccacaaagattatgcccaggaaaag
ccctctcgtctgaaacaaagatttttgcttagaagaacaaagccagattacagcacaagc
cattctgcaagactcaccgaagatgtccttgctgatgatcgggatgactatgatttcttg
atgcaaacgtccacgtactattactcagtgagaatctttcctggacaagaacctgctaat
gtctgggtgggctggattacatcagatttccatcagtatgacacaggctttgacttggac
agagttcgcacagtaacagttactctaggagatgaaaaaggaaaagtgcatgaaagcatc
aaacgcagcaactgctatatggtatgtgcgggtgagagcatgagccccgggcaaggacgc
aacaataatggactggagattggctgtgtggtggatgctgccagcgggctgctcacattc
attgccaatggcaaggaactgagcacatactatcaggtggaaccgagtacaaaattattt
cctgcggtttttgcacaagctacaagtcccaatgttttccagtttgagttgggaagaata
aagaatgtgatgcctctctcggcgggattattcaagagtgagcacaagaaccccgtgccg
cagtgccccccgcgcctccacgtgcagttcctgtcacacgtcctgtggagcagaatgccc
aaccagtttttgaaggtagatgtgtctcgaataagtgaacgccaaggctggttggtgcag
tgtttggatcctctgcagttcatgtctcttcatatccctgaggaaaacagatctgttgac
atcttagagttgacagagcaggaggaattgctgaaatttcactatcacactctccggctc
tactcagccgtctgtgctcttgggaaccaccgggtggcccatgccctgtgcagccatgtg
gatgaacctcagctcctctatgccattgagaacaagtacatgcctggtttgctgcgtgct
ggctactatgacctgctgattgacatccacctgagctcctatgccactgccaggctcatg
atgaacaacgagtacattgtccccatgacggaggagacgaagagcatcaccctgttccct
gatgagaacaaaaaacacggccttccagggatcggcctcagcacctccctcaggccacgg
atgcagttttcctcccccagttttgtaagcattagtaatgaatgttaccagtacagtcca
gagttcccactggacatcctcaagtccaaaaccatacagatgctgacagaagctgttaaa
gagggcagtcttcatgcccgggacccagttggagggactactgaattcctctttgtacct
ctcatcaagcttttctataccctgctgatcatgggcatctttcacaacgaggacttgaag
cacatcttgcagttgattgagcccagtgtgtttaaagaagctgccactccggaggaggag
agtgacacgctggagaaagagctcagtgtggacgatgcaaagctgcaaggagctggtgag
gaagaagccaaggggggcaagcggcccaaggaaggcctgctccaaatgaaactgccagag
ccagttaaattgcagatgtgcctactgcttcagtacctctgtgactgccaggtccggcac
cggatagaagccattgtagccttttcagatgattttgtggctaagctccaagacaatcaa
cgtttccgatacaacgaagtcatgcaagccttaaacatgtcagctgcactcacagccagg
aagacaaaggaatttagatcaccacctcaagaacagatcaatatgcttctcaattttaag
gatgacaaaagtgaatgtccatgtccagaagaaattcgtgaccaactattggatttccat
gaagatttgatgacacattgtggaattgagctggatgaagatgggtctctggatggaaac
agtgatttaacaattagagggcgtctgctatccctggtagaaaaggtgacatatctgaag
aagaagcaagcagaaaaaccagttgagagtgactccaaaaagtcctccactctgcagcag
ctgatttctgagaccatggtccgatgggctcaggagtctgtcattgaagaccccgagctg
gtgagggccatgtttgtgttgctccatcggcagtatgacggcattgggggtcttgttcgg
gccctgccaaagacctacacgataaatggtgtgtccgtggaggacaccatcaacctgctg
gcatcccttggtcagattcggtccctgctgagtgtgagaatgggcaaagaagaagagaag
ctcatgattcgtggattaggggatattatgaataacaaagtgttttaccagcaccctaat
ctcatgagggcactggggatgcacgagactgtgatggaggtcatggtgaacgtccttgga
ggtggagagtccaaggaaatcacctttcccaagatggtggccaactgttgccgttttctc
tgttacttctgtcgtataagtaggcagaatcaaaaagctatgtttgatcatctcagttat
ttactggaaaacagcagtgttggtcttgcctccccagctatgagaggttcaacaccactg
gatgtggctgcagcttcggtgatggataataatgaactagcattagctctgcgtgagccg
gatctagaaaaggtagttcgttatttggctggttgtggactgcaaagttgccagatgctg
gtgtctaagggctatccagacattgggtggaacccagttgaaggagagagatatcttgac
tttcttagatttgctgtcttctgtaatggggagagtgtggaggaaaatgcaaatgtcgtg
gtgagattgctcattcggaggcctgagtgttttggtcctgctttgagaggagaaggtggg
aatgggcttcttgcagcaatggaagaagccatcaaaatcgccgaggatccttcccgagat
ggtccctcaccaaatagcggatccagtaaaacacttgacacagaggaggaggaagatgac
actatccacatggggaacgcgatcatgaccttctattcagctttgattgacctcttggga
cgctgtgctcctgagatgcatttgattcatgccgggaagggagaagccatcagaattagg
tccattttgagatccctcattcccctgggagatttggtgggcgttatcagcatcgctttt
cagatgccaacaatagccaaagatgggaatgtggtggaacctgacatgtctgcggggttt
tgcccagatcacaaggcagccatggttttattccttgacagggtctatgggattgaggtt
caagacttcctcctccatcttcttgaggttggctttctgccagatctccgggcggctgct
tctttagatacggcagctttgagtgctacagacatggccttggccctcaatcggtacctt
tgcacagccgtcttgccattgttaacaagatgtgctcctctctttgctggcacagagcac
cacgcttctctcattgactcattacttcatactgtgtatagactttctaagggctgttca
cttaccaaagctcagcgggattccatagaagtttgtttactctctatttgtggacaactg
agaccttctatgatgcagcacttactcagaagattagtatttgatgttccattattaaat
gaacacgcaaagatgcctcttaaactgctgacaaatcattatgaaagatgctggaaatat
tactgcctgcctggagggtggggaaactttggtgctgcctcagaagaagaacttcattta
tcaagaaagttgttctggggcatttttgatgccctgtctcaaaagaaatatgaacaagaa
cttttcaaactggcactgccttgcctgagtgcagttgcgggagctttgcctccagactac
atggagtcaaattatgtcagtatgatggaaaaacagtcatcaatggattctgaagggaac
tttaacccacaacctgttgatacctcaaatattacaattcctgagaaattggaatacttc
attaacaaatatgcagaacactcccatgacaaatggtcaatggacaagttggcaaatgga
tggatttatggagaaatatattcagactcttctaaggttcagccattaatgaagccatat
aagctattgtctgaaaaggaaaaagaaatttatcgctggccaatcaaagaatctttaaaa
actatgctggcttggggctggagaattgaaagaactcgggagggagacagcatggccctt
tacaaccggactcgtcgtatttctcagacaagccaggtttctgtggacgctgcccatggt
tacagtccccgggccattgacatgagcaatgttacactatctagagacctgcatgctatg
gcagaaatgatggctgaaaactaccataatatatgggcaaagaaaaagaaaatggagttg
gagtccaaaggaggaggaaaccatcctctgctggtgccctatgatacactgacagccaaa
gagaaagccaaggatagagaaaaagcacaggacatcctcaagttcttgcagatcaatgga
tatgctgtatccagaggatttaaggacctggaactggacacgccttctattgagaaacga
tttgcctatagtttcctccaacaactcattcgctatgtggatgaagcccatcagtatatc
ctggagtttgatggtggcagcagaggcaaaggagaacatttcccttatgaacaagaaatc
aagttctttgcaaaagtcgttcttcctttaattgatcagtatttcaaaaaccatcgttta
tacttcttatctgcagcaagcagacctctctgctctggaggacatgcttccaacaaagag
aaagaaatggtgactagcctattctgcaaacttggagttcttgtcaggcataggatttca
ctatttggcaatgatgcaacatcaattgtcaactgtcttcatattttgggtcagactttg
gatgcaaggacagtgatgaagactggcctggagagtgttaaaagtgcactcagagctttt
ctggacaacgctgcagaggatctggagaagaccatggaaaacctcaagcagggccagttc
actcacacccgaaaccagcccaaaggggttactcagattatcaattacaccacagtggcc
ctgctgccaatgctgtcttcattatttgaacatattggccagcatcagttcggagaagac
ctaatattggaagatgtccaggtgtcttgttatagaattctgactagcttatatgctttg
ggaaccagcaagagtatttacgtggagaggcaacgttctgcattaggagaatgtctagct
gcctttgctggtgcttttcctgtagcatttttggaaactcatctggacaaacataatatt
tactccatctacaataccaagtcttcacgagaaagagcagctctcagtttgccaactaat
gtggaagatgtttgtccaaacataccgtctttggagaaactcatggaagaaatcgtggaa
ttagccgagtccggcattcgctacactcaaatgccacatgtcatggaagtcatactgccc
atgctttgcagctacatgtctcgttggtgggagcatggacctgagaacaatccagaacgg
gccgagatgtgctgcacagccctgaactcagagcacatgaacacacttctagggaacata
ttgaaaatcatatataataacttggggattgatgagggagcctggatgaagaggctagca
gtgttttcccagcctataataaataaagtgaaacctcagctcttgaaaactcatttcttg
ccgttaatggagaaactcaagaaaaaggcagctacggtggtgtctgaggaagaccacctg
aaagctgaggccaggggggacatgtcggaggcagaactcctcatcctagatgagttcacc
acactggccagagatctctatgccttctaccctctcttgattagatttgtggactataac
agggcaaagtggctaaaggagcctaacccagaagcagaggagctcttccgcatggtggct
gaagtgtttatctactggtcgaagtcccataatttcaaaagagaagagcagaacttcgtt
gtacagaatgaaatcaacaatatgtctttccttattactgataccaagtcaaagatgtca
aaggcagctgtttctgatcaggaaaggaagaaaatgaagcgcaaaggagatcggtattcc
atgcagacctctctgattgtagcagctctgaagcggttactgcccattgggttgaacatc
tgtgcccctggggaccaggagctcattgctctggccaaaaatcgatttagcctgaaagat
accgaggatgaagtacgagatataatccgcagcaatattcatttacaaggcaagttggag
gatcctgctattagatggcaaatggctctttacaaagacttaccaaacaggactgatgat
acctcagatccagagaagacggtagaaagagtattggatatagcaaatgtgctttttcat
cttgaacagaagtctaaacgtgtgggtcggagacattactgtctggtggaacatcctcag
agatctaaaaaggctgtatggcataaactactgtccaagcagaggaaaagggctgttgta
gcctgcttccggatggcccccttatataatctgccaaggcatcgggctgtcaatctcttt
cttcagggatatgaaaagtcttggattgaaacagaagaacattactttgaagataaactg
atagaagatttagcaaaacctggggctgaacctccagaagaagatgaaggcactaagaga
gttgatcctctacatcagctgatccttctgtttagtcggacagctttaacagagaaatgc
aaactggaggaagattttttatatatggcctatgcagatattatggcaaagagttgtcat
gatgaggaagatgacgatggtgaagaggaagtgaagagttttgaagaaaaagaaatggaa
aagcaaaagcttctataccagcaagcccgactccacgatcgtggcgcggctgagatggtg
ctacagacaatcagtgccagcaaaggtgaaactggaccaatggtagcagctactctgaaa
cttggaattgctattttaaatggtgggaactccacagtacagcagaaaatgcttgactac
ctcaaggagaaaaaggatgtgggcttctttcagagcctggccggcctgatgcagtcatgt
agtgtccttgacctaaatgcatttgagcgacaaaacaaagctgaaggtcttgggatggtg
acagaggaaggatcaggagaaaaggttctgcaggacgatgagttcacctgtgacctcttc
cgattcctgcaactactctgtgagggacacaactcagattttcagaattatctgagaact
cagactggcaataatacaactgtcaacataattatctccactgtagactacctactgaga
gttcaggaatcaattagtgacttttattggtattactctgggaaagatgttattgatgaa
caaggacaacggaatttctccaaagctatccaagtggcaaaacaagtctttaacactctt
acagagtatattcagggtccttgcactgggaatcaacagagtttggcacacagcaggctg
tgggatgctgtggtcggctttcttcatgtgtttgcccatatgcagatgaagctgtcgcag
gattccagtcaaattgagctattaaaagaattaatggatctgcagaaggatatggtggtc
atgttgctgtccatgttagaaggtaatgttgttaatggaacgattggcaaacagatggtg
gatatgcttgtggaatcttccaacaacgtggagatgattctcaaattttttgacatgttc
ttaaaactaaaggatttgacgtcgtctgatacttttaaagaatatgaccccgatggcaag
ggagtcatttccaagagggacttccacaaagcgatggagagccataagcactacacgcag
tcagaaacggaatttcttttgtcttgtgcggagacggatgagaatgaaaccctcgactac
gaagagttcgtcaaacgcttccacgaacctgcgaaggacatcggcttcaacgtcgccgtc
cttctgacaaacctctctgagcacatgcccaacgatacccgacttcagacttttctggaa
ttagcagagagcgtcctgaattatttccagccctttctgggccgcatcgaaatcatggga
agcgccaaacgcatcgagagggtctattttgaaatcagtgagtccagccgaacccagtgg
gagaagccccaggtcaaggagtccaaaagacagttcatatttgacgtggtcaacgaaggc
ggagagaaagagaagatggaactctttgtgaacttctgcgaggacaccatctttgaaatg
cagctggcggctcagatctcggagtcggacttgaacgagaggtcagcgaataaggaagaa
agcgagaaggagaggccggaagagcaggggccgaggatggctttcttctccattctgacg
gtcaggtcggccctgtttgcgctcaggtacaatatcttgacccttatgcgaatgctcagt
ctgaagagcctgaagaagcagatgaaaaaagtaaaaaagatgaccgtgaaggacatggtc
acggccttcttttcatcctactggagtattttcatgaccctcttgcacttcgtggccagc
gttttcagaggctttttccgcatcatttgcagcctgctgcttgggggaagcctcgtcgaa
ggtgctaaaaagatcaaagttgcagaactgttagccaacatgccagaccccactcaggat
gaggttagaggagatggggaggagggagagaggaaacccctggaagccgccctgccctcc
gaggatctgaccgacttaaaggagctgacagaggaaagtgaccttctttcggacatcttt
ggcctggatctgaagagagaaggaggacagtacaaactgattcctcataatccaaatgct
gggctcagtgacctcatgagcaacccagtccccatgcctgaggtgcaggaaaaatttcag
gaacagaaggcaaaagaagaagaaaaggaagaaaaagaagaaaccaaatctgaacctgaa
aaagccgagggagaagatggagaaaaagaagagaaagccaaggaagacaagggcaaacaa
aagttgaggcagcttcacacacacagatacggagaaccagaagtgccagagtcagcattc
tggaagaaaatcatagcatatcaacagaaacttctaaactattttgctcgcaacttttac
aacatgagaatgttagccttatttgtcgcatttgctatcaatttcatcttgctcttttat
aaggtctccacttcttctgtggttgaaggaaaggagctccccacgagaagttcaagtgaa
aatgccaaagtgacaagcctggacagcagctcccatagaatcatcgcagttcactatgta
ctagaggagagcagcggctacatggagcccacgttgcgtatcttagctattctgcacacg
gtcatttctttcttctgcatcattggatactactgcttgaaagtcccattggttattttt
aagcgagaaaaggaagtggcacggaaattggaatttgatgggctttatattacagaacag
ccttcagaagatgatattaaaggccagtgggatagactcgtaatcaacacacagtcattt
cccaacaactactgggacaaatttgttaaaagaaaggttatggataaatatggagagttc
tacggccgagacagaatcagtgaattacttggcatggacaaggcagctctggacttcagt
gatgccagagaaaagaagaagccaaagaaagacagctccttatcagctgtactgaactcc
attgatgtgaagtatcagatgtggaaactaggagtcgttttcactgacaactccttcctc
tacctagcctggtatatgactatgtctgttcttggacactataacaactttttttttgcc
gctcaccttctcgacattgctatgggattcaagacattaagaaccatcttgtcctcagta
actcacaatggcaaacagctcgtattaaccgttggcttattagctgttgttgtataccta
tacactgtggtggcattcaattttttccgaaaattctacaataaaagtgaagatggtgat
acaccagatatgaaatgtgacgatatgctaacatgctatatgttccacatgtatgttgga
gttcgtgctggaggagggatcggggatgaaatcgaagacccagcaggagatgaatatgag
atctatcgaatcatctttgacatcactttcttcttctttgttattgtcattctcttggcc
ataatacaaggtctaattattgatgcttttggagaactaagagaccaacaggaacaagtc
aaagaagacatggagaccaaatgcttcatctgtgggataggcaatgattacttcgacaca
gtgccacatggctttgaaacccacactttacaggagcacaacttggctaattacttgttt
tttctgatgtatcttataaacaaagatgaaacagaacacacaggacaggaatcttatgtc
tggaagatgtatcaagaaaggtgttgggaatttttcccagcaggggattgcttccggaaa
cagtatgaagaccagctaaattaa

KEGG   Homo sapiens (human): 6263
Entry
6263              CDS       T01001                                 
Symbol
RYR3, CMYO20, CMYP20, RYR-3
Name
(RefSeq) ryanodine receptor 3
  KO
K04963  ryanodine receptor 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04371  Apelin signaling pathway
hsa04713  Circadian entrainment
hsa04921  Oxytocin signaling pathway
hsa04970  Salivary secretion
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06460  Alzheimer disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H01810  Congenital myopathy
Drug target
Aladorian (DG02040): D10304 D10305
Surlorian (DG03360): D13172 D13173
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    6263 (RYR3)
   04020 Calcium signaling pathway
    6263 (RYR3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    6263 (RYR3)
  09154 Digestive system
   04970 Salivary secretion
    6263 (RYR3)
  09159 Environmental adaptation
   04713 Circadian entrainment
    6263 (RYR3)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    6263 (RYR3)
   05012 Parkinson disease
    6263 (RYR3)
   05020 Prion disease
    6263 (RYR3)
   05022 Pathways of neurodegeneration - multiple diseases
    6263 (RYR3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6263 (RYR3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ryanodine receptor
   6263 (RYR3)
SSDB
Motif
Pfam: RYDR_Jsol RYDR_ITPR RyR RR_TM4-6 MIR SPRY Ins145_P3_rec RIH_assoc Ion_trans EF-hand_7 EF-hand_1 EF-hand_6 EF-hand_5 EF-hand_8
Other DBs
NCBI-GeneID: 6263
NCBI-ProteinID: NP_001027
OMIM: 180903
HGNC: 10485
Ensembl: ENSG00000198838
UniProt: Q15413
Structure
LinkDB
Position
15:33310967..33866102
AA seq 4870 aa
MAEGGEGGEDEIQFLRTEDEVVLQCIATIHKEQRKFCLAAEGLGNRLCFLEPTSEAKYIP
PDLCVCNFVLEQSLSVRALQEMLANTGENGGEGAAQGGGHRTLLYGHAVLLRHSFSGMYL
TCLTTSRSQTDKLAFDVGLREHATGEACWWTIHPASKQRSEGEKVRIGDDLILVSVSSER
YLHLSVSNGNIQVDASFMQTLWNVHPTCSGSSIEEGYLLGGHVVRLFHGHDECLTIPSTD
QNDSQHRRIFYEAGGAGTRARSLWRVEPLRISWSGSNIRWGQAFRLRHLTTGHYLALTED
QGLILQDRAKSDTKSTAFSFRASKELKEKLDSSHKRDIEGMGVPEIKYGDSVCFVQHIAS
GLWVTYKAQDAKTSRLGPLKRKVILHQEGHMDDGLTLQRCQREESQAARIIRNTTALFSQ
FVSGNNRTAAPITLPIEEVLQTLQDLIAYFQPPEEEMRHEDKQNKLRSLKNRQNLFKEEG
MLALVLNCIDRLNVYNSVAHFAGIAREESGMAWKEILNLLYKLLAALIRGNRNNCAQFSN
NLDWLISKLDRLESSSGILEVLHCILTESPEALNLIAEGHIKSIISLLDKHGRNHKVLDI
LCSLCLCNGVAVRANQNLICDNLLPRRNLLLQTRLINDVTSIRPNIFLGVAEGSAQYKKW
YFELIIDQVDPFLTAEPTHLRVGWASSSGYAPYPGGGEGWGGNGVGDDLYSYGFDGLHLW
SGRIPRAVASINQHLLRSDDVVSCCLDLGVPSISFRINGQPVQGMFENFNTDGLFFPVMS
FSAGVKVRFLMGGRHGEFKFLPPSGYAPCYEALLPKEKMRLEPVKEYKRDADGIRDLLGT
TQFLSQASFIPCPVDTSQVILPPHLEKIRDRLAENIHELWGMNKIELGWTFGKIRDDNKR
QHPCLVEFSKLPETEKNYNLQMSTETLKTLLALGCHIAHVNPAAEEDLKKVKLPKNYMMS
NGYKPAPLDLSDVKLLPPQEILVDKLAENAHNVWAKDRIKQGWTYGIQQDLKNKRNPRLV
PYALLDERTKKSNRDSLREAVRTFVGYGYNIEPSDQELADSAVEKVSIDKIRFFRVERSY
AVRSGKWYFEFEVVTGGDMRVGWARPGCRPDVELGADDQAFVFEGNRGQRWHQGSGYFGR
TWQPGDVVGCMINLDDASMIFTLNGELLITNKGSELAFADYEIENGFVPICCLGLSQIGR
MNLGTDASTFKFYTMCGLQEGFEPFAVNMNRDVAMWFSKRLPTFVNVPKDHPHIEVMRID
GTMDSPPCLKVTHKTFGTQNSNADMIYCRLSMPVECHSSFSHSPCLDSEAFQKRKQMQEI
LSHTTTQCYYAIRIFAGQDPSCVWVGWVTPDYHLYSEKFDLNKNCTVTVTLGDERGRVHE
SVKRSNCYMVWGGDIVASSQRSNRSNVDLEIGCLVDLAMGMLSFSANGKELGTCYQVEPN
TKVFPAVFLQPTSTSLFQFELGKLKNAMPLSAAIFRSEEKNPVPQCPPRLDVQTIQPVLW
SRMPNSFLKVETERVSERHGWVVQCLEPLQMMALHIPEENRCVDILELCEQEDLMRFHYH
TLRLYSAVCALGNSRVAYALCSHVDLSQLFYAIDNKYLPGLLRSGFYDLLISIHLASAKE
RKLMMKNEYIIPITSTTRNIRLFPDESKRHGLPGVGLRTCLKPGFRFSTPCFVVTGEDHQ
KQSPEIPLESLRTKALSMLTEAVQCSGAHIRDPVGGSVEFQFVPVLKLIGTLLVMGVFDD
DDVRQILLLIDPSVFGEHSAGTEEGAEKEEVTQVEEKAVEAGEKAGKEAPVKGLLQTRLP
ESVKLQMCELLSYLCDCELQHRVEAIVAFGDIYVSKLQANQKFRYNELMQALNMSAALTA
RKTKEFRSPPQEQINMLLNFQLGENCPCPEEIREELYDFHEDLLLHCGVPLEEEEEEEED
TSWTGKLCALVYKIKGPPKPEKEQPTEEEERCPTTLKELISQTMICWAQEDQIQDSELVR
MMFNLLRRQYDSIGELLQALRKTYTISHTSVSDTINLLAALGQIRSLLSVRMGKEEELLM
INGLGDIMNNKVFYQHPNLMRVLGMHETVMEVMVNVLGTEKSQIAFPKMVASCCRFLCYF
CRISRQNQKAMFEHLSYLLENSSVGLASPSMRGSTPLDVAASSVMDNNELALSLEEPDLE
KVVTYLAGCGLQSCPMLLAKGYPDVGWNPIEGERYLSFLRFAVFVNSESVEENASVVVKL
LIRRPECFGPALRGEGGNGLLAAMQGAIKISENPALDLPSQGYKREVSTGDDEEEEEIVH
MGNAIMSFYSALIDLLGRCAPEMHLIQTGKGEAIRIRSILRSLVPTEDLVGIISIPLKLP
SLNKDGSVSEPDMAANFCPDHKAPMVLFLDRVYGIKDQTFLLHLLEVGFLPDLRASASLD
TVSLSTTEAALALNRYICSAVLPLLTRCAPLFAGTEHCTSLIDSTLQTIYRLSKGRSLTK
AQRDTIEECLLAICNHLRPSMLQQLLRRLVFDVPQLNEYCKMPLKLLTNHYEQCWKYYCL
PSGWGSYGLAVEEELHLTEKLFWGIFDSLSHKKYDPDLFRMALPCLSAIAGALPPDYLDT
RITATLEKQISVDADGNFDPKPINTMNFSLPEKLEYIVTKYAEHSHDKWACDKSQSGWKY
GISLDENVKTHPLIRPFKTLTEKEKEIYRWPARESLKTMLAVGWTVERTKEGEALVQQRE
NEKLRSVSQANQGNSYSPAPLDLSNVVLSRELQGMVEVVAENYHNIWAKKKKLELESKGG
GSHPLLVPYDTLTAKEKFKDREKAQDLFKFLQVNGIIVSRGMKDMELDASSMEKRFAYKF
LKKILKYVDSAQEFIAHLEAIVSSGKTEKSPRDQEIKFFAKVLLPLVDQYFTSHCLYFLS
SPLKPLSSSGYASHKEKEMVAGLFCKLAALVRHRISLFGSDSTTMVSCLHILAQTLDTRT
VMKSGSELVKAGLRAFFENAAEDLEKTSENLKLGKFTHSRTQIKGVSQNINYTTVALLPI
LTSIFEHVTQHQFGMDLLLGDVQISCYHILCSLYSLGTGKNIYVERQRPALGECLASLAA
AIPVAFLEPTLNRYNPLSVFNTKTPRERSILGMPDTVEDMCPDIPQLEGLMKEINDLAES
GARYTEMPHVIEVILPMLCNYLSYWWERGPENLPPSTGPCCTKVTSEHLSLILGNILKII
NNNLGIDEASWMKRIAVYAQPIISKARPDLLRSHFIPTLEKLKKKAVKTVQEEEQLKADG
KGDTQEAELLILDEFAVLCRDLYAFYPMLIRYVDNNRSNWLKSPDADSDQLFRMVAEVFI
LWCKSHNFKREEQNFVIQNEINNLAFLTGDSKSKMSKAMQVKSGGQDQERKKTKRRGDLY
SIQTSLIVAALKKMLPIGLNMCTPGDQELISLAKSRYSHRDTDEEVREHLRNNLHLQEKS
DDPAVKWQLNLYKDVLKSEEPFNPEKTVERVQRISAAVFHLEQVEQPLRSKKAVWHKLLS
KQRKRAVVACFRMAPLYNLPRHRSINLFLHGYQRFWIETEEYSFEEKLVQDLAKSPKVEE
EEEEETEKQPDPLHQIILYFSRNALTERSKLEDDPLYTSYSSMMAKSCQSGEDEEEDEDK
EKTFEEKEMEKQKTLYQQARLHERGAAEMVLQMISASKGEMSPMVVETLKLGIAILNGGN
AGVQQKMLDYLKEKKDAGFFQSLSGLMQSCSVLDLNAFERQNKAEGLGMVTEEGTLIVRE
RGEKVLQNDEFTRDLFRFLQLLCEGHNSDFQNFLRTQMGNTTTVNVIISTVDYLLRLQES
ISDFYWYYSGKDIIDESGQHNFSKALAVTKQIFNSLTEYIQGPCIGNQQSLAHSRLWDAV
VGFLHVFANMQMKLSQDSSQIELLKELLDLLQDMVVMLLSLLEGNVVNGTIGKQMVDTLV
ESSTNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGIISKKEFQKAMEGQKQYTQSEID
FLLSCAEADENDMFNYVDFVDRFHEPAKDIGFNVAVLLTNLSEHMPNDSRLKCLLDPAES
VLNYFEPYLGRIEIMGGAKKIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEQE
KMELFVNFCEDTIFEMQLASQISESDSADRPEEEEEDEDSSYVLEIAGEEEEDGSLEPAS
AFAMACASVKRNVTDFLKRATLKNLRKQYRNVKKMTAKELVKVLFSFFWMLFVGLFQLLF
TILGGIFQILWSTVFGGGLVEGAKNIRVTKILGDMPDPTQFGIHDDTMEAERAEVMEPGI
TTELVHFIKGEKGDTDIMSDLFGLHPKKEGSLKHGPEVGLGDLSEIIGKDEPPTLESTVQ
KKRKAQAAEMKAANEAEGKVESEKADMEDGEKEDKDKEEEQAEYLWTEVTKKKKRRCGQK
VEKPEAFTANFFKGLEIYQTKLLHYLARNFYNLRFLALFVAFAINFILLFYKVTEEPLEE
ETEDVANLWNSFNDEEEEEAMVFFVLQESTGYMAPTLRALAIIHTIISLVCVVGYYCLKV
PLVVFKREKEIARKLEFDGLYITEQPSEDDIKGQWDRLVINTPSFPNNYWDKFVKRKVIN
KYGDLYGAERIAELLGLDKNALDFSPVEETKAEAASLVSWLSSIDMKYHIWKLGVVFTDN
SFLYLAWYTTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVV
VYLYTVVAFNFFRKFYNKSEDDDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGD
PYEMYRIVFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQVREDMETKCFICGIGNDY
FDTTPHGFETHTLQEHNLANYLFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDC
FRKQYEDQLG
NT seq 14613 nt   +upstreamnt  +downstreamnt
atggccgaagggggagaaggaggcgaggacgagatccagtttctgaggactgaggatgaa
gtggtactccagtgcatcgccaccattcataaggagcagaggaagttctgcctggcagcc
gagggacttgggaatcgcctgtgcttcttggaacccacttcagaagccaagtacattcct
ccagatctctgcgtctgcaattttgtgctggaacagtccctatctgtcagagccctgcag
gaaatgcttgccaacacaggtgaaaatggcggcgaaggggcagcacaaggaggtggccac
aggaccctgttatacggccatgcagttctcctgaggcactctttcagcggaatgtatcta
acatgcttgactacatcaagatcccagacagacaaacttgcctttgatgtaggtctacgg
gaacatgccacaggagaagcctgttggtggactatacatcctgcttccaaacagaggtcc
gaaggagagaaagttcgaattggcgatgacctcatcctcgtcagcgtgtcctctgaaaga
taccttcatctctcagtatcaaatggtaacatacaagtggatgcctcctttatgcaaaca
ctctggaatgtacatcctacgtgctcaggaagtagcatcgaagaaggatacctacttggt
gggcatgtagtacgtcttttccatggtcatgatgaatgtttgacgataccatctacagac
cagaatgattcccagcacaggaggatattctacgaagctgggggagctgggactcgagcc
aggtctctttggagagtggaaccccttcggataagctggagtggcagtaacatcagatgg
ggccaggctttccgactccggcatctcaccacaggccactacctggccttgacagaagac
caaggccttatactgcaagaccgggcaaagtcagacaccaagtccacagctttctctttc
cgggcatcaaaggaactcaaggagaaattagactccagtcacaagcgagacatagaaggc
atgggagttccagaaatcaagtatggagattctgtctgctttgtgcagcatatagccagt
ggtctgtgggtgacctacaaagcacaagacgccaaaacttcccgcctgggacctctaaaa
agaaaggtcatactccatcaggaaggccacatggatgatggattaacactgcagagatgc
cagcgtgaggagtcccaggctgctcggatcatccggaacactacagccttattcagccag
tttgtcagcggaaacaatcgcacagctgcccccatcaccctgcctatagaagaagtcctg
cagaccctacaggacttgatcgcctacttccagcccccagaggaggagatgcgacatgaa
gacaagcagaacaagctccgctcactcaaaaacagacaaaatcttttcaaggaagaggga
atgttggcccttgtcttaaattgcattgaccgcttaaatgtctacaatagcgtagcacac
tttgcagggattgcaagggaagagagtggcatggcctggaaagaaattctgaacctcctc
tacaaattgctggctgctctcattcgcggaaacagaaacaattgcgctcaattctccaat
aaccttgattggctcatcagtaaattggacagactagaatcttcctcaggtatcttggaa
gttttgcactgcatcttaactgaaagcccagaagccttaaatctgatagcggagggccac
atcaagtcgatcatctccctgttggataagcacgggcggaatcacaaggttctggatatc
ctgtgctccctctgtctctgcaatggggttgcagtgagagccaaccagaatctgatctgt
gacaacttgctgccccggagaaacctactcctgcagacacgactgattaacgatgtaacc
agtatccggccaaacatcttcctgggagtcgcggagggctcagcccagtacaagaagtgg
tacttcgagctgattatcgaccaggtggaccccttcctaacagcagagcccacacatctg
cgggtgggctgggcctcttcttcaggctatgccccatacccaggaggtggagaaggatgg
ggaggcaatggtgttggtgacgacctgtactcctatggctttgatggacttcacctttgg
tcaggccggatacccagagctgtggcttccatcaaccagcacctcctgagatcggatgac
gtggtaagctgctgcctggacctcggggtgcccagcatctcattccgcatcaatgggcag
cccgtgcaggggatgtttgagaacttcaacacagacgggctcttcttccctgtgatgagc
ttttcagcaggtgtcaaagtacgtttcctgatgggtggacgtcatggagagtttaagttc
ctgcctccctctggctatgccccttgctatgaagccttacttccaaaagagaagatgaga
ttggagcctgtcaaagaatataaacgtgatgctgatggcattagagatctcttgggtacc
acccagttcctctcccaagcctctttcatcccatgccccgtagacaccagtcaggttatt
ttgccacctcacctagaaaagatccgagacagactagctgaaaacatccatgagctttgg
ggaatgaataaaatagaacttggctggactttcggcaagatacgagatgacaataaaaga
caacacccttgccttgtggagttttcaaagctcccagaaactgagaagaactataacctg
caaatgtcaactgaaaccttaaaaaccctcttggccctggggtgccacattgctcatgtt
aacccagctgctgaggaggatctcaagaaggtcaaactgcccaaaaactatatgatgtcc
aacggctataagccagcccctttggatttgtctgatgtgaagctgttacctcctcaagaa
attttagtggataagcttgcagaaaatgcacacaatgtttgggcaaaagacagaataaaa
caaggatggacctatggcatccaacaggatttgaagaacaaaagaaatccccgtctggtg
ccatatgcattactggatgagcgtaccaagaagtcaaacagggacagcctgcgggaagct
gtgcgcacttttgttggttacgggtataacattgagccatcagaccaagaactagctgac
tcggctgtggagaaggtcagcatagacaagatccgatttttccgggtagagcgatcttat
gcagtgagatctggaaagtggtattttgagtttgaagtggtgactggaggagacatgcga
gtcggctgggcgaggccaggctgtcgacctgatgtcgagctgggggccgatgaccaagcc
tttgtgtttgaaggcaacaggggccagcgttggcatcaaggaagtgggtattttgggcgt
acctggcagccaggggatgtggtcggatgtatgattaacctggatgatgcttcaatgatc
ttcacactgaatggggagctgctgatcaccaacaaaggctctgaacttgccttcgctgac
tacgagattgagaatggcttcgtgcccatctgctgtctgggtctatctcagatcggccgc
atgaatctcgggacagatgccagtaccttcaagttttataccatgtgcggtctccaagag
ggctttgagccttttgctgtcaacatgaacagagatgttgctatgtggttcagcaagcgc
ctcccgacgtttgtcaacgtgccaaaggatcatccacacatagaggtcatgaggattgat
ggcaccatggacagccctccgtgtctcaaggtgacgcataagacatttggcacacagaat
agcaatgccgacatgatctattgccgcttgagcatgcctgtcgagtgccactcctccttc
agccacagcccctgtctggacagtgaagctttccagaaaaggaaacagatgcaagaaata
ctctctcatacaacaacacagtgctactacgccatccgcatctttgctggacaggatcca
tcctgtgtctgggtcggatgggtgactccagactatcacttgtacagtgaaaagtttgac
ctgaataaaaactgcacagtgactgtcaccctaggggatgaaagaggccgggtccatgaa
agtgtgaaacgcagcaactgctacatggtctggggtggagacattgtagccagttcccag
agatcaaatcggagcaacgtggacctggagatcggctgtctcgtggatctggccatgggc
atgttgtccttctcagccaatggaaaggaactgggcacctgctaccaggtggagcctaat
accaaagtgtttccagcagtcttcctgcagcctacaagtacttctttgtttcagtttgaa
cttggaaagctgaagaacgcaatgcccctgtcagcggccatattcaggagtgaagagaag
aacccagtcccacagtgtccacctcggctggacgtccaaaccatccagcccgtgctctgg
agccgcatgcccaacagcttcctgaaggtggagaccgagcgtgtgagcgagcgccacggc
tgggtggtgcagtgcctggagcccctgcagatgatggcgctccacatccccgaggagaac
aggtgtgtggatatcctggagctctgtgagcaggaggacctgatgcggttccattaccac
acgctgaggctctacagcgcggtgtgcgccctgggaaacagccgcgtggcctacgccctg
tgcagccacgtggacctctcccagctcttctatgccattgacaacaagtacctccccggc
ctccttcgatctggtttctatgacctgctcatcagcatccacctggccagcgccaaggag
aggaagctgatgatgaagaacgagtacatcatccccattaccagcaccaccaggaatatc
cgcctcttcccggacgagtccaagaggcatggactgcctggggtgggcctgagaacatgt
ctcaagcccgggttcaggttctccaccccttgctttgttgtgactggtgaggatcaccaa
aagcagagccccgagattcccttggagagtctcaggacgaaggctctgagtatgctgaca
gaggcagtgcagtgcagcggggcccacatccgagaccctgtaggggggtctgtggagttc
cagtttgtgcctgtgctgaaactcattggaaccctgctggtcatgggcgtgtttgatgat
gatgatgttcggcagatcctcctcctgattgatccctctgtgtttggggagcatagtgcg
gggacagaggagggagcagaaaaggaggaagtgacccaggtggaggagaaggctgtggag
gctggggagaaggccggcaaggaggctcctgtcaaaggcttgttgcagactcgattaccc
gaatccgtcaagctgcagatgtgtgagctcctcagctatctctgcgactgtgagctgcag
caccgagtggaggccattgtggcatttggtgacatttatgtctccaagctgcaggcaaat
cagaagttccgctacaatgagctcatgcaggccctgaacatgtctgcggccctgactgcc
cggaagaccaaggagttccgctcacccccacaggagcagatcaacatgctgcttaacttt
caactgggagagaactgcccctgcccagaggagattcgggaggagctgtatgatttccat
gaggaccttctccttcactgtggggttcctttggaagaagaggaagaggaggaggaggac
acctcctggacaggaaaactctgtgccttggtttacaaaatcaaaggcccacccaagcca
gagaaggagcagccgacggaggaggaggagagatgccccacaacattgaaggaactcatc
tcacagacgatgatctgctgggcccaggaggaccagatccaggattcagagctggtccga
atgatgttcaacctcctccggaggcagtatgacagcattggggagctgctgcaggcgctg
cggaagacctacaccatcagccacacctctgtaagcgacaccatcaacctgctggctgcc
ctgggccaaatccgctccctcctcagtgtcaggatgggcaaggaagaggagttgctcatg
atcaatgggctgggagacataatgaacaacaaggtgttttaccagcatcccaacctcatg
agagtcctgggcatgcacgagacggtgatggaggtgatggtgaacgtgttgggtacagag
aaatctcagattgcatttccaaagatggttgctagctgctgccgtttcctttgctatttc
tgtcgaattagccggcaaaatcagaaggccatgtttgagcatctgagttatcttctggag
aatagcagtgttggcctagcctccccgtcgatgaggggatccaccccgctggatgtggca
gcttcctctgtgatggacaacaatgagttagcgctgagcttagaggaaccagacctcgag
aaggtggtgacctacttggcaggctgtggcctacagagctgccccatgcttctggccaaa
ggataccctgatgtcggctggaaccccattgaaggggaacgctacctgtccttcctgagg
tttgctgtcttcgtgaacagtgagagtgtggaagaaaacgccagcgttgtggtcaagctg
ctcatcagacgcccagagtgcttcggcccggccctgcggggtgaggggggaaacgggctc
ttggcagccatgcagggtgccattaagatctctgagaacccagcgctcgacctcccctct
caaggatacaaaagagaagtcagcacgggggacgatgaagaggaagaagaaatcgtgcat
atgggcaatgcaattatgtcattttattcggcccttatagatctactgggccgctgtgct
cctgaaatgcacctcatccagacaggaaagggggaagccatccgcatcaggtccatcctg
cgctccctggtccccacagaagacctggttgggatcatcagcatccccttgaaactgccc
tccctcaacaaagatgggtcggtcagtgagccagatatggcggccaatttctgccctgac
cacaaggcacctatggtgctgttcttggaccgcgtttatggcattaaggatcaaactttt
ctgctccacttgctggaggttggatttttacctgacctaagagcttctgcctctctagat
acagtttccctaagcaccacagaggctgcgcttgcactaaataggtatatatgttctgct
gtgctcccgctcctcacaagatgtgcccctctctttgccggaacagaacactgcacctct
ctgattgattccacactgcagacaatatacaggctatccaagggacgttccctcaccaaa
gcacaaagggacactatagaagaatgtttgcttgccatttgcaatcacttgaggccttcc
atgttacagcaactcctgcgacgcctcgtttttgatgtgccgcaactcaatgaatactgc
aaaatgcctctcaagcttctgacgaatcactatgaacagtgttggaagtattactgcctg
ccttcaggatgggggagctacgggctagctgtggaagaagagctgcacctaacggagaag
cttttctgggggatttttgactcgctctcccataagaaatatgacccagatcttttccga
atggccctgccttgtctcagtgctatagctggggccttgccaccagattatttagatacc
agaatcacagccacgttggagaaacagatctcagtggatgcggatggcaactttgaccca
aaacctattaacaccatgaatttttccttgcctgaaaaattggaatacatcgtcaccaag
tatgctgagcattcacatgataaatgggcctgtgacaagagtcagagtggatggaaatat
gggatttccctggatgaaaatgtgaagacccacccactgataaggcctttcaagacatta
acggagaaggagaaggaaatttatcgctggcctgcgcgagagtccctgaaaaccatgctg
gctgtgggctggactgtggagaggaccaaagagggagaagctttggttcaacagcgggaa
aatgagaagcttcgaagtgtgtcccaggccaaccagggcaacagctacagtcctgctccc
ctcgacctctcaaacgttgtgctctccagagagctccagggaatggtggaggtcgtggct
gagaactatcacaatatctgggccaagaagaagaagctggagctggagagcaaaggtggt
ggcagccaccctcttctggtaccatatgacaccttgactgccaaggaaaagttcaaggac
cgggagaaggcacaggacctgtttaagttcctccaagtgaatggcatcatagtttccagg
ggtatgaaggatatggagctggatgcctcctccatggagaagaggtttgcctataagttc
ttgaagaagatcctgaaatacgttgattctgctcaagaatttattgcccatttagaagcc
attgtcagcagtgggaaaactgaaaagtctccccgtgaccaggagatcaaattctttgcc
aaagttctcctcccgctggttgaccagtacttcaccagtcattgcctctacttcttgtca
tcccctctgaagccccttagcagcagcggatatgcctcccataaggagaaagaaatggtg
gccggcctgttctgcaaacttgccgctctcgttagacacagaatttccctctttggtagt
gattctactacaatggtgagctgtcttcacatcttagctcagacacttgacacaaggact
gtcatgaagtcaggctcagagctggtgaaggctgggttacgagcattctttgaaaatgct
gcagaagatttggagaagacttcagaaaacctgaaacttgggaagttcacccattcccga
acgcagattaaaggcgtttctcagaatattaactacactacagtggctctgctccccatc
ctgacgtccatctttgagcacgtcactcagcatcagtttggaatggatctactcttgggt
gatgtgcagatttcatgctaccacatactgtgcagcctctactcccttgggacgggaaag
aacatttatgttgaaaggcaacgccctgcccttggagaatgtctggcctcgctggcagct
gccataccagtggcattcctggagcccacccttaatcgctacaatccactctcggtcttc
aacaccaaaacccccagggagaggtctattctggggatgccagacacggtagaagacatg
tgtcctgacatcccccagctggaaggcctgatgaaggaaatcaacgacctggccgagtca
ggggcccggtacacagagatgccccatgtcatcgaggtgatcttacccatgctctgcaac
tacttgtcctactggtgggagcggggtcctgagaacctgccccccagcacagggccatgc
tgcaccaaggtcacctctgaacacctcagtctcatcctgggcaacattctgaaaatcatc
aacaacaacctgggcatcgatgaggcctcctggatgaagcgcattgcagtgtatgcacag
cccatcatcagcaaagccaggcccgacctgctgagaagccacttcatcccaactctggag
aagctgaagaaaaaggctgtcaagacggtgcaggaggaggagcagttgaaagccgatggc
aaaggggacacccaggaggcagaactcctcatcctggacgagttcgcggtcctctgcaga
gatctctatgccttctaccccatgctgatccgctacgtggacaacaacagatctaactgg
ctgaaaagtcctgatgctgattctgaccagctcttccgcatggtggcagaagtcttcatt
ctgtggtgtaaatctcataacttcaagagagaagagcaaaattttgtgattcagaatgaa
attaataatttggcatttttaactggagacagcaaaagcaagatgtcaaaagccatgcaa
gtaaagtctggaggacaagaccaggagcggaagaagacaaagcggcggggagacttgtat
tccatccagacctccctcatcgtggctgcactcaagaaaatgctgcccattggtttgaat
atgtgtactccaggcgaccaggagctgatctccctcgcaaaatcgcgatacagccatagg
gacacagatgaagaggtcagagaacatctgcggaacaacttgcacttgcaggaaaagtct
gatgacccagctgtaaaatggcaactgaacctctacaaggatgttctgaagagtgaagaa
cctttcaatccggaaaagacagtggagcgtgtgcagagaatttcagcagctgtcttccac
ctggaacaggtggaacagcctttgaggtccaagaaggccgtctggcacaaactgttatca
aagcaacggaaacgggcagtggtggcctgtttcaggatggcccctctctacaacctgccc
aggcaccgctctattaacctcttcctccatggctatcagagattttggatagaaacagag
gagtattcctttgaagagaaactagtacaggatttggctaaatctccaaaggtggaagag
gaggaggaggaagagacagaaaaacaacctgacccactacatcagatcattctctatttt
agccgcaacgctctcacggagaggagcaaattggaagacgaccctttgtacacctcctat
tccagcatgatggccaagagttgtcaaagtggtgaggatgaagaagaagatgaagacaag
gaaaaaacattcgaagagaaagagatggagaagcaaaaaaccctctatcagcaagctcgg
ctgcatgagcgtggtgctgcagagatggtccttcagatgataagcgctagcaaaggtgag
atgagccccatggtggttgagacgctgaagctggggatcgccattctgaacggaggcaat
gctggtgtgcaacagaaaatgctagattacctaaaggagaaaaaggatgctggattcttt
caaagcctttctggtcttatgcagtcttgcagtgtccttgatttgaatgcatttgagagg
cagaataaagctgaaggcctggggatggtgactgaagaaggaacactcattgttcgggaa
cgtggtgaaaaagtactccagaatgacgagttcacgcgtgatctctttagattcctacag
ttactttgtgagggacataacagtgactttcagaacttcctgcggactcagatgggcaac
accaccaccgtgaatgtcatcatcagcactgtggactaccttctgcgtctgcaggaatca
atcagtgatttctactggtattattcagggaaggacatcattgatgaatctggacagcac
aatttttccaaagctctggcagtcaccaagcagattttcaattctcttacagaatacatc
cagggcccttgcattggtaatcaacagagcctggctcacagcaggctgtgggacgcagtg
gttggcttcctccatgtctttgctaatatgcagatgaaactctctcaggattccagtcag
atcgagctgctgaaggaactcttggatctccttcaggacatggtggtgatgcttctgtcc
ctcctggaagggaatgtggtaaatggcaccattggcaagcagatggttgacacactggta
gaatcatctaccaatgtagaaatgatcttgaaattctttgacatgttcttgaaacttaaa
gacttaaccagctcagacaccttcaaagaatatgacccagatggtaaaggaattatctcc
aaaaaagaattccagaaggccatggaagggcaaaaacagtacacgcagtcagagattgac
tttctcctgtcgtgtgcagaagctgatgagaatgacatgtttaattacgttgattttgta
gaccggttccatgagccagccaaggacatagggtttaatgtggctgtgttattgacaaat
ctttctgaacacatgccaaacgattcccgcctgaagtgtctgttggacccagcagaaagt
gtgctaaattacttcgaaccctacctaggacgcatcgagatcatgggtggggccaagaag
attgagcgtgtttattttgagatcagtgaatccagtcgcactcagtgggagaagccccag
gtgaaggaatctaagcgacagttcatttttgatgttgtcaatgaaggtggggagcaggaa
aagatggagctgtttgtgaacttctgtgaggacaccatctttgaaatgcagttagcatct
cagatctctgaatccgattcagctgacaggccagaagaggaggaagaagatgaagattct
tcttacgtgttagaaattgcgggtgaagaggaagaagacgggtctcttgagccggcctct
gcatttgctatggcctgtgcctctgtgaagaggaatgtcaccgacttcctgaagagagca
accctgaagaacctcaggaagcagtacaggaacgtgaaaaagatgactgcgaaggagctg
gtgaaggtgctcttctcctttttctggatgctgttcgtggggctattccagttgctcttc
accatcctgggaggaatctttcagatcctctggagcacagtgtttggagggggcctggta
gaaggggcaaagaacatcagagtgaccaagatcctgggtgacatgcctgacccaacccaa
tttggtatccatgatgacactatggaggctgagagggcagaggtgatggagccaggtatc
accactgaactagtacacttcataaagggggagaagggagatacagatatcatgtcagac
ctctttggactccacccaaagaaagagggcagcttaaagcatgggcctgaagtgggtttg
ggtgacctctcagaaattattggcaaggatgaaccccctacattagagagtactgtacag
aagaagaggaaagctcaggcagcagaaatgaaagcagcaaatgaagcagaaggaaaagta
gaatccgagaaggcagacatggaagatggagagaaggaagacaaagacaaagaagaggag
caagctgagtacctgtggacagaagtgacaaaaaagaagaagcggcggtgtggtcagaag
gttgagaagccggaagctttcacagccaatttctttaaagggctggaaatctatcagacc
aagttactgcattacctggccaggaatttctacaacctgaggttccttgctctgtttgta
gccttcgctatcaacttcatcctgcttttttataaggtcactgaagaacctttagaagaa
gagacagaggatgttgcaaacctatggaattcctttaatgacgaggaagaggaagaagcg
atggtattctttgtccttcaggagagcaccgggtatatggcaccaaccctgcgtgccctg
gccatcatccataccatcatctctctagtctgtgtggtgggctactactgcctgaaggtg
cctttggtggttttcaaaagggaaaaagaaatcgccaggaagctggagtttgatggccta
tatatcaccgaacagccatctgaagatgacatcaaggggcagtgggaccgcttggtgatc
aacacaccatcttttcctaataactactgggacaagtttgtaaagagaaaggtgatcaac
aagtatggagatctctacggagcagaacgcattgctgaacttctgggtttggacaaaaat
gctcttgactttagcccagtagaagagaccaaagcagaagcggcttctctggtgtcatgg
ctaagttccatagacatgaagtaccatatctggaagcttggagttgtttttactgacaac
tcctttctctaccttgcctggtatacaaccatgtcagtcctgggccactacaataacttc
ttctttgctgctcacctattggacatcgcaatgggcttcaagacactgaggaccattctg
tcatctgtaactcacaatggcaaacagttggttctgactgtcggtctcctggccgtggtg
gtttatctctatactgtggtggctttcaacttcttccgcaagttctacaacaaaagcgaa
gacgatgacgagcccgatatgaagtgcgacgacatgatgacgtgttaccttttccacatg
tacgtgggagtgagagcaggaggtggcattggtgatgaaattgaagaccctgctggtgat
ccttatgaaatgtatcgcattgtctttgacattacctttttcttcttcgtcattgtcatc
ttgctggccatcattcaaggtcttattattgatgctttcggagagctaagagaccagcag
gaacaagtacgagaagatatggagactaaatgtttcatctgtgggattggcaatgactac
tttgacacaacccctcatggttttgaaacacatacattacaagagcacaacttagccaac
tacttgttctttctgatgtatttgattaataaagatgaaacagagcacacgggtcaggaa
tcttatgtctggaagatgtaccaagaaaggtgttgggatttcttcccagccggtgactgc
tttcgtaaacaatatgaagatcagcttggataa

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