KEGG   Homo sapiens (human): 10368
Entry
10368             CDS       T01001                                 
Symbol
CACNG3
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 3
  KO
K04868  voltage-dependent calcium channel gamma-3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    10368 (CACNG3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    10368 (CACNG3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10368 (CACNG3)
   04261 Adrenergic signaling in cardiomyocytes
    10368 (CACNG3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    10368 (CACNG3)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    10368 (CACNG3)
   05414 Dilated cardiomyopathy
    10368 (CACNG3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10368 (CACNG3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   10368 (CACNG3)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 ABC2_membrane_2
Other DBs
NCBI-GeneID: 10368
NCBI-ProteinID: NP_006530
OMIM: 606403
HGNC: 1407
Ensembl: ENSG00000006116
UniProt: O60359
LinkDB
Position
16:24256335..24362412
AA seq 315 aa
MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTH
SGLWRTCCLEGAFRGVCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGL
CVAASEFHRSRHNVILSAGIFFVSAGLSNIIGIIVYISANAGDPGQRDSKKSYSYGWSFY
FGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKKSTFARLPPYRYRFRRRSSSRST
EPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLLNSDRDHAFLQFHNSTPKEFK
ESLHNNPANRRTTPV
NT seq 948 nt   +upstreamnt  +downstreamnt
atgaggatgtgtgacagaggtatccagatgttgatcaccactgtaggagcctttgccgct
tttagtttaatgaccattgcagtgggcacggactactggttatattccagaggtgtgtgc
aggactaaatctacaagtgataatgaaaccagcaggaagaatgaagaagtaatgacccat
tcggggctgtggaggacctgctgcctagaaggggctttccgaggcgtgtgcaagaaaatc
gatcacttccctgaagatgctgactacgaacaggacacagccgaatatctcctgcgagct
gtgagggcctccagtgtcttccccatcctcagtgtcacgctgctgttcttcggcgggctc
tgcgtggcagccagtgagttccaccgcagcagacacaacgtcattctcagcgcgggcatc
ttttttgtctctgcagggttaagcaacatcattggcatcatagtttatatatcagccaac
gccggagaccccgggcagcgtgactccaaaaaaagttactcctatggttggtccttttat
ttcggagccttctctttcatcatcgcagaaattgtaggagtggttgccgtgcacatctat
attgaaaaacatcagcagttacgagccaaatcccactcggagttcctgaagaaatctact
tttgcccgcctcccaccctacaggtatcgattccggaggcggtcaagttctcgctccacc
gagcccagatcccgagacctgtcccccatcagcaaaggcttccacaccatcccttccact
gacatctcgatgttcaccctctcccgggacccctcaaagatcaccatggggaccctcctc
aactccgaccgggaccacgcttttctacagttccacaattccacacccaaagagttcaaa
gagtcactgcataataatccggccaacaggcgcaccacgcccgtctga

KEGG   Homo sapiens (human): 10369
Entry
10369             CDS       T01001                                 
Symbol
CACNG2, MRD10
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 2
  KO
K04867  voltage-dependent calcium channel gamma-2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    10369 (CACNG2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    10369 (CACNG2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10369 (CACNG2)
   04261 Adrenergic signaling in cardiomyocytes
    10369 (CACNG2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    10369 (CACNG2)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    10369 (CACNG2)
   05414 Dilated cardiomyopathy
    10369 (CACNG2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10369 (CACNG2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   10369 (CACNG2)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 CD20 DUF2053
Other DBs
NCBI-GeneID: 10369
NCBI-ProteinID: NP_006069
OMIM: 602911
HGNC: 1406
Ensembl: ENSG00000166862
UniProt: Q9Y698
Structure
LinkDB
Position
22:complement(36560857..36703752)
AA seq 323 aa
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV
NT seq 972 nt   +upstreamnt  +downstreamnt
atggggctgtttgatcgaggtgttcaaatgcttttaaccaccgttggtgctttcgctgcc
ttcagcctgatgaccatagctgtgggaaccgactattggctctactccagaggggtttgc
aagaccaaaagtgtcagtgagaatgaaaccagcaaaaagaacgaggaagttatgacccat
tccggattatggagaacctgctgcctagaagggaatttcaaaggtctgtgcaagcaaatt
gatcacttcccagaggatgcagattacgaagctgacacagcagaatatttcctccgggcc
gtgagggcctccagcattttcccaatcctgagtgtgattctgcttttcatgggtggcctc
tgcatcgcagccagcgagttctacaaaactcgacacaacatcatcctgagtgccggcatc
ttcttcgtgtctgcaggtctgagtaacatcattggcatcatagtgtacatatctgccaat
gccggagacccctccaagagcgactccaaaaagaatagttactcatacggctggtccttc
tacttcggggccctgtccttcatcatcgccgagatggtcggggtgctggcggtgcacatg
tttatcgaccggcacaaacagctgcgggccacggcccgcgccacggactacctccaggcc
tctgccatcacccgcatccccagctaccgctaccgctaccagcgccgcagccgctccagc
tcgcgctccacggagccctcacactccagggacgcctcccccgtgggcatcaagggcttc
aacaccctgccgtccacggagatctccatgtacacgctcagcagggaccccctgaaggcc
gccaccacgcccaccgccacctacaactccgacagggataacagcttcctccaggttcac
aactgtatccagaaggagaacaaggactctctccactccaacacagccaaccgccggacc
acccccgtataa

KEGG   Homo sapiens (human): 27091
Entry
27091             CDS       T01001                                 
Symbol
CACNG5
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 5
  KO
K04870  voltage-dependent calcium channel gamma-5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    27091 (CACNG5)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    27091 (CACNG5)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    27091 (CACNG5)
   04261 Adrenergic signaling in cardiomyocytes
    27091 (CACNG5)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    27091 (CACNG5)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    27091 (CACNG5)
   05414 Dilated cardiomyopathy
    27091 (CACNG5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    27091 (CACNG5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   27091 (CACNG5)
SSDB
Motif
Pfam: Claudin_2 PMP22_Claudin SUR7 COPI_assoc DUF716 AgrD DUF6336 DUF373
Other DBs
NCBI-GeneID: 27091
NCBI-ProteinID: NP_665810
OMIM: 606405
HGNC: 1409
Ensembl: ENSG00000075429
UniProt: Q9UF02
LinkDB
Position
17:66835117..66894751
AA seq 275 aa
MSACGRKALTLLSSVFAVCGLGLLGIAVSTDYWLYLEEGVIVPQNQSTEIKMSLHSGLWR
VCFLAGEERGRCFTIEYVMPMNTQLTSESTVNVLKMIRSATPFPLVSLFFMFIGFILNNI
GHIRPHRTILAFVSGIFFILSGLSLVVGLVLYISSINDEMLNRTKDAETYFNYKYGWSFA
FAAISFLLTESAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQFLHPDAWVRG
RSPSDISSEASLQMNSNYPALLKCPDYDQMSSSPC
NT seq 828 nt   +upstreamnt  +downstreamnt
atgagtgcctgcgggaggaaggccctgaccctgctgagcagtgtctttgctgtctgtggc
ttgggcctcctgggtatcgcggtcagcaccgactactggctgtacctggaggagggtgtg
attgtgccccagaaccagagcaccgagatcaagatgtccctgcactcaggcctctggcgg
gtctgcttccttgcaggtgaggagcgggggcgttgcttcaccatagaatatgtgatgccc
atgaacacccagctgacatccgagtccacggtcaatgttctaaagatgatccgctcagcc
acaccattccctctggtcagcctcttcttcatgttcattgggtttatcctgaacaacatc
ggacacatccgtccccaccggacgatactggcctttgtctctggcatcttctttatcctc
tcaggcctctctctcgtggtgggcctggtgctctacatctccagcatcaacgatgagatg
ctcaacaggaccaaggatgcagagacctacttcaactacaagtatgggtggtcgtttgcc
ttcgccgccatctccttccttttaacggagagtgccggggtgatgtctgtgtacctgttt
atgaagcggtacaccgcggaggacatgtacaggccccaccctggcttctaccgccctcgg
ctgagcaactgctccgattactcaggccagttcctacacccagacgcctgggtcaggggc
cgcagcccctccgacatctccagcgaggcctccctgcagatgaacagcaactaccccgcc
ttgctcaagtgccccgactatgatcagatgtcctcttcaccctgctga

KEGG   Homo sapiens (human): 27092
Entry
27092             CDS       T01001                                 
Symbol
CACNG4
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 4
  KO
K04869  voltage-dependent calcium channel gamma-4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    27092 (CACNG4)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    27092 (CACNG4)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    27092 (CACNG4)
   04261 Adrenergic signaling in cardiomyocytes
    27092 (CACNG4)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    27092 (CACNG4)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    27092 (CACNG4)
   05414 Dilated cardiomyopathy
    27092 (CACNG4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    27092 (CACNG4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   27092 (CACNG4)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 AA_permease_2
Other DBs
NCBI-GeneID: 27092
NCBI-ProteinID: NP_055220
OMIM: 606404
HGNC: 1408
Ensembl: ENSG00000075461
UniProt: Q9UBN1
LinkDB
Position
17:66964707..67033398
AA seq 327 aa
MVRCDRGLQMLLTTAGAFAAFSLMAIAIGTDYWLYSSAHICNGTNLTMDDGPPPRRARGD
LTHSGLWRVCCIEGIYKGHCFRINHFPEDNDYDHDSSEYLLRIVRASSVFPILSTILLLL
GGLCIGAGRIYSRKNNIVLSAGILFVAAGLSNIIGIIVYISSNTGDPSDKRDEDKKNHYN
YGWSFYFGALSFIVAETVGVLAVNIYIEKNKELRFKTKREFLKASSSSPYARMPSYRYRR
RRSRSSSRSTEASPSRDVSPMGLKITGAIPMGELSMYTLSREPLKVTTAASYSPDQEASF
LQVHDFFQQDLKEGFHVSMLNRRTTPV
NT seq 984 nt   +upstreamnt  +downstreamnt
atggtgcgatgcgaccgcgggctgcagatgctgctgaccacggccggagccttcgccgcc
ttctcgctcatggccatcgccatcggcaccgactactggctgtactccagcgcgcacatc
tgcaacggcaccaacctgaccatggacgacgggcccccgccccgccgcgcccgcggcgac
ctcacccactctggtctgtggcgggtgtgctgcatcgaagggatctataaagggcactgc
ttccggatcaatcacttcccagaggacaatgactacgaccacgacagctcggagtacctc
ctccgcatcgtgcgagcctccagcgtcttccccatcctcagcaccatcctgctcctgctg
ggtggcctgtgcatcggtgctggcaggatctacagccgcaagaacaacatcgtcctcagt
gccggcatcctcttcgtggctgcaggcctcagtaacatcatcggtatcatcgtctacatt
tccagcaacacaggtgacccgagtgacaagcgggacgaagacaaaaagaaccattacaac
tacggctggtctttttactttggagctctgtctttcattgtggctgagaccgtgggcgtc
ctggctgtaaacatttacattgagaaaaataaagagttgaggtttaagaccaaacgggaa
ttccttaaggcgtcttcctcttctccttatgccaggatgccgagctacaggtaccggcga
cggcgctcgaggtccagctcaaggtccaccgaggcctcgccctccagggacgtgtcgccc
atgggcctgaagatcacaggggccatccccatgggggagctgtccatgtacacgctgtcc
agggagcccctcaaggtgaccaccgcagccagctacagccccgaccaggaggccagcttc
ctgcaggtgcatgactttttccagcaggacctgaaggaaggtttccacgtcagcatgctg
aaccgacggacgacccctgtgtga

KEGG   Homo sapiens (human): 55799
Entry
55799             CDS       T01001                                 
Symbol
CACNA2D3, HSA272268
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 3
  KO
K04860  voltage-dependent calcium channel alpha-2/delta-3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Drug target
Gabapentin (DG01245): D00332<JP/US> D09539<JP/US>
Pregabalin: D02716<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    55799 (CACNA2D3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    55799 (CACNA2D3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    55799 (CACNA2D3)
   04261 Adrenergic signaling in cardiomyocytes
    55799 (CACNA2D3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    55799 (CACNA2D3)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    55799 (CACNA2D3)
   05414 Dilated cardiomyopathy
    55799 (CACNA2D3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    55799 (CACNA2D3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   55799 (CACNA2D3)
SSDB
Motif
Pfam: VWA_N VGCC_alpha2 dCache_1 VWA_3 VWA VWA_2 MCP-like_PDC_1 dCache_2 VWA_CoxE Phage_holin_6_1
Other DBs
NCBI-GeneID: 55799
NCBI-ProteinID: NP_060868
OMIM: 606399
HGNC: 15460
Ensembl: ENSG00000157445
UniProt: Q8IZS8
LinkDB
Position
3:54122552..55074557
AA seq 1091 aa
MAGPGSPRRASRGASALLAAALLYAALGDVVRSEQQIPLSVVKLWASAFGGEIKSIAAKY
SGSQLLQKKYKEYEKDVAIEEIDGLQLVKKLAKNMEEMFHKKSEAVRRLVEAAEEAHLKH
EFDADLQYEYFNAVLINERDKDGNFLELGKEFILAPNDHFNNLPVNISLSDVQVPTNMYN
KDPAIVNGVYWSESLNKVFVDNFDRDPSLIWQYFGSAKGFFRQYPGIKWEPDENGVIAFD
CRNRKWYIQAATSPKDVVILVDVSGSMKGLRLTIAKQTVSSILDTLGDDDFFNIIAYNEE
LHYVEPCLNGTLVQADRTNKEHFREHLDKLFAKGIGMLDIALNEAFNILSDFNHTGQGSI
CSQAIMLITDGAVDTYDTIFAKYNWPDRKVRIFTYLIGREAAFADNLKWMACANKGFFTQ
ISTLADVQENVMEYLHVLSRPKVIDQEHDVVWTEAYIDSTLPQAQKLTDDQGPVLMTTVA
MPVFSKQNETRSKGILLGVVGTDVPVKELLKTIPKYKLGIHGYAFAITNNGYILTHPELR
LLYEEGKKRRKPNYSSVDLSEVEWEDRDDVLRNAMVNRKTGKFSMEVKKTVDKGKRVLVM
TNDYYYTDIKGTPFSLGVALSRGHGKYFFRGNVTIEEGLHDLEHPDVSLADEWSYCNTDL
HPEHRHLSQLEAIKLYLKGKEPLLQCDKELIQEVLFDAVVSAPIEAYWTSLALNKSENSD
KGVEVAFLGTRTGLSRINLFVGAEQLTNQDFLKAGDKENIFNADHFPLWYRRAAEQIPGS
FVYSIPFSTGPVNKSNVVTASTSIQLLDERKSPVVAAVGIQMKLEFFQRKFWTASRQCAS
LDGKCSISCDDETVNCYLIDNNGFILVSEDYTQTGDFFGEIEGAVMNKLLTMGSFKRITL
YDYQAMCRANKESSDGAHGLLDPYNAFLSAVKWIMTELVLFLVEFNLCSWWHSDMTAKAQ
KLKQTLEPCDTEYPAFVSERTIKETTGNIACEDCSKSFVIQQIPSSNLFMVVVDSSCLCE
SVAPITMAPIEIRYNESLKCERLKAQKIRRRPESCHGFHPEENARECGGAPSLQAQTVLL
LLPLLLMLFSR
NT seq 3276 nt   +upstreamnt  +downstreamnt
atggccgggccgggctcgccgcgccgcgcgtcccggggggcctcggcgcttctcgctgcc
gcgcttctctacgccgcgctgggggacgtggtgcgctcggagcagcagataccgctctcc
gtggtgaagctctgggcctcggcttttggtggggagataaaatccattgctgctaagtac
tccggttcccagcttctgcaaaagaaatacaaagagtatgagaaagacgttgccatagaa
gaaattgatggcctccaactggtaaagaagctggcaaagaacatggaagagatgtttcac
aagaagtctgaggccgtcaggcgtctggtggaggctgcagaagaagcacacctgaaacat
gaatttgatgcagacttacagtatgaatacttcaatgctgtgctgataaatgaaagggac
aaagacgggaattttttggagctgggaaaggaattcatcttagccccaaatgaccatttt
aataatttgcctgtgaacatcagtctaagtgacgtccaagtaccaacgaacatgtacaac
aaagaccctgcaattgtcaatggggtttattggtctgaatctctaaacaaagtttttgta
gataactttgaccgtgacccatctctcatatggcagtactttggaagtgcaaagggcttt
tttaggcagtatccggggattaaatgggaaccagatgagaatggagtcattgccttcgac
tgcaggaaccgaaaatggtacatccaggcagcaacttctccgaaagacgtggtcatttta
gttgacgtcagtggcagcatgaaaggactccgtctgactatcgcgaagcaaacagtctca
tccattttggatacacttggggatgatgacttcttcaacataattgcttataatgaggag
cttcactatgtggaaccttgcctgaatggaactttggtgcaagccgacaggacaaacaaa
gagcacttcagggagcatctggacaaacttttcgccaaaggaattggaatgttggatata
gctctgaatgaggccttcaacattctgagtgatttcaaccacacgggacaaggaagtatc
tgcagtcaggccatcatgctcataactgatggggcggtggacacctatgatacaatcttt
gcaaaatacaattggccagatcgaaaggttcgcatcttcacatacctcattggacgagag
gctgcgtttgcagacaatctaaagtggatggcctgtgccaacaaaggattttttacccag
atctccaccttggctgatgtgcaggagaatgtcatggaataccttcacgtgcttagccgg
cccaaagtcatcgaccaggagcatgatgtggtgtggaccgaagcttacattgacagcact
ctccctcaggcacaaaagctgactgatgatcagggccccgtcctgatgaccactgtagcc
atgcctgtgtttagtaagcagaacgaaaccagatcgaagggcattcttctgggagtggtt
ggcacagatgtcccagtgaaagaacttctgaagaccatccccaaatacaagttagggatt
cacggttatgcctttgcaatcacaaataatggatatatcctgacgcatccggaactcagg
ctgctgtacgaagaaggaaaaaagcgaaggaaacctaactatagtagcgttgacctctct
gaggtggagtgggaagaccgagatgacgtgttgagaaatgctatggtgaatcgaaagacg
gggaagttttccatggaggtgaagaagacagtggacaaagggaaacgggttttggtgatg
acaaatgactactattatacagacatcaagggtactcctttcagtttaggtgtggcgctt
tccagaggtcatgggaaatatttcttccgagggaatgtaaccatcgaagaaggcctgcat
gacttagaacatcccgatgtgtccttggcagatgaatggtcctactgcaacactgaccta
caccctgagcaccgccatctgtctcagttagaagcgattaagctctacctaaaaggcaaa
gaacctctgctccagtgtgataaagaattgatccaagaagtcctttttgacgcggtggtg
agtgcccccattgaagcgtattggaccagcctggccctcaacaaatctgaaaattctgac
aagggcgtggaggttgccttcctcggcactcgcacgggcctctccagaatcaacctgttt
gtcggggctgagcagctcaccaatcaggacttcctgaaagctggcgacaaggagaacatt
tttaacgcagaccatttccctctctggtaccgaagagccgctgagcagattccagggagc
ttcgtctactcgatcccattcagcactggaccagtcaataaaagcaatgtggtgacagca
agtacatccatccagctcctggatgaacggaaatctcctgtggtggcagctgtaggcatt
cagatgaaacttgaatttttccaaaggaagttctggactgccagcagacagtgtgcttcc
ctggatggcaaatgctccatcagctgtgatgatgagactgtgaattgttacctcatagac
aataatggatttattttggtgtctgaagactacacacagactggagacttttttggtgag
atcgagggagctgtgatgaacaaattgctaacaatgggctcctttaaaagaattaccctt
tatgactaccaagccatgtgtagagccaacaaggaaagcagcgatggcgcccatggcctc
ctggatccttataatgccttcctctctgcagtaaaatggatcatgacagaacttgtcttg
ttcctggtggaatttaacctctgcagttggtggcactccgatatgacagctaaagcccag
aaattgaaacagaccctggagccttgtgatactgaatatccagcattcgtctctgagcgc
accatcaaggagactacagggaatattgcttgtgaagactgctccaagtcctttgtcatc
cagcaaatcccaagcagcaacctgttcatggtggtggtggacagcagctgcctctgtgaa
tctgtggcccccatcaccatggcacccattgaaatcaggtataatgaatcccttaagtgt
gaacgtctaaaggcccagaagatcagaaggcgcccagaatcttgtcatggcttccatcct
gaggagaatgcaagggagtgtgggggtgcgccgagtctccaagcccagacagtcctcctt
ctgctccctctgcttttgatgctcttctcaaggtga

KEGG   Homo sapiens (human): 59283
Entry
59283             CDS       T01001                                 
Symbol
CACNG8
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 8
  KO
K04873  voltage-dependent calcium channel gamma-8
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59283 (CACNG8)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59283 (CACNG8)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59283 (CACNG8)
   04261 Adrenergic signaling in cardiomyocytes
    59283 (CACNG8)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    59283 (CACNG8)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    59283 (CACNG8)
   05414 Dilated cardiomyopathy
    59283 (CACNG8)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59283 (CACNG8)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59283 (CACNG8)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 DUF2269 AA_permease_2 TMEM173
Other DBs
NCBI-GeneID: 59283
NCBI-ProteinID: NP_114101
OMIM: 606900
HGNC: 13628
Ensembl: ENSG00000142408
UniProt: Q8WXS5
LinkDB
Position
19:53962937..53990215
AA seq 425 aa
MESLKRWNEERGLWCEKGVQVLLTTVGAFAAFGLMTIAISTDYWLYTRALICNTTNLTAG
GDDGTPHRGGGGASEKKDPGGLTHSGLWRICCLEGLKRGVCVKINHFPEDTDYDHDSAEY
LLRVVRASSIFPILSAILLLLGGVCVAASRVYKSKRNIILGAGILFVAAGLSNIIGVIVY
ISANAGEPGPKRDEEKKNHYSYGWSFYFGGLSFILAEVIGVLAVNIYIERSREAHCQSRS
DLLKAGGGAGGSGGSGPSAILRLPSYRFRYRRRSRSSSRSSEPSPSRDASPGGPGGPGFA
STDISMYTLSRDPSKGSVAAGLAGAGGGGGGAVGAFGGAAGGAGGGGGGGGGAGAERDRG
GASGFLTLHNAFPKEAGGGVTVTVTGPPAPPAPAPPAPSAPAPGTLAKEAAASNTNTLNR
KTTPV
NT seq 1278 nt   +upstreamnt  +downstreamnt
ctggagtcgctgaagcgctggaacgaagagcggggcctctggtgcgagaagggggtgcag
gtgctgctgacgacggtgggcgccttcgccgccttcggcctcatgaccatcgccatcagc
actgactactggctctacacgcgcgccctcatctgcaacaccaccaacctcacggccggc
ggcgacgacgggaccccccaccgcgggggcggcggcgcctcggagaagaaggaccccggc
ggcctcacgcactcgggcctctggaggatctgctgcctggaagggttgaaaagaggcgtc
tgcgtgaagatcaatcatttcccggaggacacggactacgaccacgacagcgcggagtat
ctactccgagttgtccgggcctccagcatcttccccatccttagcgccatcctgctgctg
ctcgggggtgtgtgcgtggcggcctcccgcgtctacaagtccaagaggaacatcattctg
ggcgcagggatcctgttcgtggcagcaggcctgagcaacatcatcggcgtgatcgtgtac
atctccgccaacgcgggcgagccgggcccgaagcgggacgaggagaagaaaaaccactac
tcgtacggctggtccttctacttcggcgggctgtcgttcatcctggccgaggtgataggc
gtgctggccgtcaacatctacatcgagcgcagccgcgaggcgcactgccagtctcgctcg
gacctgctcaaggccggcgggggcgcgggcggcagtggcgggagcggcccctcggccatc
ctccgtctgcccagttaccgcttccgctaccgccgccgctcccgctctagctcccgctcc
agcgagccgtcgccgtcgcgggacgcgtctcccggcggccccgggggcccgggctttgcc
tccacggacatctccatgtacacgctcagccgcgacccctccaagggcagcgtggccgcg
gggctggcgggggccggcggcggcggcggcggcgccgtgggggcgttcggcggcgcggcc
gggggcgccgggggcggcggcggaggcggcggcggggcgggtgccgagcgggaccgcggg
ggggcgtccggcttcctcacgctgcacaacgccttccccaaggaggcgggcggcggcgtc
acggtcacggtcaccgggccgcccgccccgcccgcgcccgcgccacccgcgccctctgcg
cccgcccccgggaccctggccaaggaggccgccgcctccaacaccaacacgctcaacagg
aaaaccacgcctgtgtag

KEGG   Homo sapiens (human): 59284
Entry
59284             CDS       T01001                                 
Symbol
CACNG7
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 7
  KO
K04872  voltage-dependent calcium channel gamma-7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59284 (CACNG7)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59284 (CACNG7)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59284 (CACNG7)
   04261 Adrenergic signaling in cardiomyocytes
    59284 (CACNG7)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    59284 (CACNG7)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    59284 (CACNG7)
   05414 Dilated cardiomyopathy
    59284 (CACNG7)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59284 (CACNG7)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59284 (CACNG7)
SSDB
Motif
Pfam: Claudin_2 PMP22_Claudin SUR7 Amastin DUF716 Claudin_3 L_HMGIC_fpl DUF202
Other DBs
NCBI-GeneID: 59284
NCBI-ProteinID: NP_114102
OMIM: 606899
HGNC: 13626
Ensembl: ENSG00000105605
UniProt: P62955
LinkDB
Position
19:53909278..53943950
AA seq 275 aa
MSHCSSRALTLLSSVFGACGLLLVGIAVSTDYWLYMEEGTVLPQNQTTEVKMALHAGLWR
VCFFAGREKGRCVASEYFLEPEINLVTENTENILKTVRTATPFPMVSLFLVFTAFVISNI
GHIRPQRTILAFVSGIFFILSGLSLVVGLVLYISSINDEVMNRPSSSEQYFHYRYGWSFA
FAASSFLLKEGAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQFLQPEAWRRG
RSPSDISSDVSIQMTQNYPPAIKYPDHLHISTSPC
NT seq 828 nt   +upstreamnt  +downstreamnt
atgagtcactgcagcagccgcgccctgaccctgctgagcagcgtgtttggtgcgtgtggc
ctgctcctggtaggcatcgcggtcagcactgactactggctgtacatggaagaaggcaca
gtgctaccgcagaaccagaccaccgaggtcaagatggccctgcacgccggcctctggcga
gtctgcttctttgcaggtcgggagaaaggtcgctgtgtggcctcagaatattttcttgaa
ccggagatcaatttggtgacggaaaacacggagaatattctgaagacagtgcgcacggcc
acccccttccccatggtcagcctcttcctcgtgttcacggccttcgtcatcagcaacatc
ggccacatccgcccgcagaggaccattctggcttttgtctctggcatcttcttcatacta
tcgggcctctccttggtggtgggcttggttctttacatctccagcatcaacgacgaggtc
atgaacaggcccagcagctctgagcagtattttcattatcgctacgggtggtcttttgcc
ttcgccgcttcctccttcctactcaaagagggggccggcgtgatgtccgtgtacctgttc
accaagcgctacgcggaggaggagatgtaccgtccacacccggccttctaccgcccgcgt
ctcagcgactgctccgactactcgggccagttcctgcagcccgaggcgtggcgccgcggc
cggagcccctccgacatctccagcgacgtgtccatccaaatgacgcagaactaccctccc
gccatcaagtacccggaccacctgcacatctccacctcgccctgctga

KEGG   Homo sapiens (human): 59285
Entry
59285             CDS       T01001                                 
Symbol
CACNG6
Name
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 6
  KO
K04871  voltage-dependent calcium channel gamma-6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59285 (CACNG6)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59285 (CACNG6)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59285 (CACNG6)
   04261 Adrenergic signaling in cardiomyocytes
    59285 (CACNG6)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    59285 (CACNG6)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    59285 (CACNG6)
   05414 Dilated cardiomyopathy
    59285 (CACNG6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59285 (CACNG6)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59285 (CACNG6)
SSDB
Motif
Pfam: Claudin_2 PMP22_Claudin SUR7
Other DBs
NCBI-GeneID: 59285
NCBI-ProteinID: NP_665813
OMIM: 606898
HGNC: 13625
Ensembl: ENSG00000130433
UniProt: Q9BXT2
LinkDB
Position
19:53991149..54012666
AA seq 260 aa
MMWSNFFLQEENRRRGAAGRRRAHGQGRSGLTPEREGKVKLALLLAAVGATLAVLSVGTE
FWVELNTYKANGSAVCEAAHLGLWKACTKRLWQADVPVDRDTCGPAELPGEANCTYFKFF
TTGENARIFQRTTKKEVNLAAAVIAVLGLAVMALGCLCIIMVLSKGAEFLLRVGAVCFGL
SGLLLLVSLEVFRHSVRALLQRVSPEPPPAPRLTYEYSWSLGCGVGAGLILLLGAGCFLL
LTLPSWPWGSLCPKRGHRAT
NT seq 783 nt   +upstreamnt  +downstreamnt
atgatgtggtccaacttcttcctgcaagaggagaaccggcggcggggggccgcgggccgg
cggcgggcgcacgggcagggcaggtcggggctgacgcccgagcgcgaggggaaggtgaag
ctggcgctgctgctggccgccgtgggcgccacgctggcggtgctgtccgtgggcaccgag
ttctgggtggagctcaacacctacaaggccaacggcagcgccgtgtgcgaagcggcccac
ctggggctgtggaaggcgtgcaccaagcggctgtggcaggcggacgtgcccgtggacagg
gacacctgcggccccgcggagctgcccggagaagcaaactgcacctattttaaattcttc
accacgggggagaatgcacgcatctttcagagaaccacaaagaaagaggtgaatctggca
gctgcggtgatagcagtgctgggcctggcagtcatggccttggggtgcctctgtatcatc
atggtgctcagtaaaggtgcagagttcctgctccgagttggagccgtctgctttggcctc
tcaggcctgctgctcttggtgagcctggaggtgttccggcattccgtgagggccctgctg
cagagagtcagcccggagcctcccccggccccacgcctcacctacgagtactcctggtcc
ctgggctgcggcgtgggggccggcctgatcctgctgttgggggccggctgctttctgctg
ctcacactgccttcctggccctgggggtccctctgtcccaagcgggggcaccgggccacc
tag

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
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
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 CAC1F_C PKD_channel
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): 776
Entry
776               CDS       T01001                                 
Symbol
CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 D
  KO
K04851  voltage-dependent calcium channel L type alpha-1D
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04218  Cellular senescence
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04530  Tight junction
hsa04713  Circadian entrainment
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic 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
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa04973  Carbohydrate digestion and absorption
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
nt06316  Renin-angiotensin-aldosterone signaling
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
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
Disease
H01603  Primary aldosteronism
H02636  Sinoatrial node dysfunction and deafness
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
    776 (CACNA1D)
   04020 Calcium signaling pathway
    776 (CACNA1D)
   04024 cAMP signaling pathway
    776 (CACNA1D)
   04022 cGMP-PKG signaling pathway
    776 (CACNA1D)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    776 (CACNA1D)
  09144 Cellular community - eukaryotes
   04530 Tight junction
    776 (CACNA1D)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04929 GnRH secretion
    776 (CACNA1D)
   04912 GnRH signaling pathway
    776 (CACNA1D)
   04921 Oxytocin signaling pathway
    776 (CACNA1D)
   04935 Growth hormone synthesis, secretion and action
    776 (CACNA1D)
   04924 Renin secretion
    776 (CACNA1D)
   04925 Aldosterone synthesis and secretion
    776 (CACNA1D)
   04927 Cortisol synthesis and secretion
    776 (CACNA1D)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    776 (CACNA1D)
   04261 Adrenergic signaling in cardiomyocytes
    776 (CACNA1D)
   04270 Vascular smooth muscle contraction
    776 (CACNA1D)
  09154 Digestive system
   04973 Carbohydrate digestion and absorption
    776 (CACNA1D)
  09156 Nervous system
   04724 Glutamatergic synapse
    776 (CACNA1D)
   04727 GABAergic synapse
    776 (CACNA1D)
   04725 Cholinergic synapse
    776 (CACNA1D)
   04728 Dopaminergic synapse
    776 (CACNA1D)
   04726 Serotonergic synapse
    776 (CACNA1D)
   04723 Retrograde endocannabinoid signaling
    776 (CACNA1D)
  09159 Environmental adaptation
   04713 Circadian entrainment
    776 (CACNA1D)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    776 (CACNA1D)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    776 (CACNA1D)
   05020 Prion disease
    776 (CACNA1D)
   05022 Pathways of neurodegeneration - multiple diseases
    776 (CACNA1D)
  09165 Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    776 (CACNA1D)
   05414 Dilated cardiomyopathy
    776 (CACNA1D)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    776 (CACNA1D)
   04934 Cushing syndrome
    776 (CACNA1D)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    776 (CACNA1D)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   776 (CACNA1D)
SSDB
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 776
NCBI-ProteinID: NP_001122312
OMIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
UniProt: Q01668 Q59GD8
Structure
LinkDB
Position
3:53494611..53813733
AA seq 2161 aa
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L
NT seq 6486 nt   +upstreamnt  +downstreamnt
atgatgatgatgatgatgatgaaaaaaatgcagcatcaacggcagcagcaagcggaccac
gcgaacgaggcaaactatgcaagaggcaccagacttcctctttctggtgaaggaccaact
tctcagccgaatagctccaagcaaactgtcctgtcttggcaagctgcaatcgatgctgct
agacaggccaaggctgcccaaactatgagcacctctgcacccccacctgtaggatctctc
tcccaaagaaaacgtcagcaatacgccaagagcaaaaaacagggtaactcgtccaacagc
cgacctgcccgcgcccttttctgtttatcactcaataaccccatccgaagagcctgcatt
agtatagtggaatggaaaccatttgacatatttatattattggctatttttgccaattgt
gtggccttagctatttacatcccattccctgaagatgattctaattcaacaaatcataac
ttggaaaaagtagaatatgccttcctgattatttttacagtcgagacatttttgaagatt
atagcgtatggattattgctacatcctaatgcttatgttaggaatggatggaatttactg
gattttgttatagtaatagtaggattgtttagtgtaattttggaacaattaaccaaagaa
acagaaggcgggaaccactcaagcggcaaatctggaggctttgatgtcaaagccctccgt
gcctttcgagtgttgcgaccacttcgactagtgtcaggagtgcccagtttacaagttgtc
ctgaactccattataaaagccatggttcccctccttcacatagcccttttggtattattt
gtaatcataatctatgctattataggattggaactttttattggaaaaatgcacaaaaca
tgtttttttgctgactcagatatcgtagctgaagaggacccagctccatgtgcgttctca
gggaatggacgccagtgtactgccaatggcacggaatgtaggagtggctgggttggcccg
aacggaggcatcaccaactttgataactttgcctttgccatgcttactgtgtttcagtgc
atcaccatggagggctggacagatgtgctctactggatgaatgatgctatgggatttgaa
ttgccctgggtgtattttgtcagtctcgtcatctttgggtcatttttcgtactaaatctt
gtacttggtgtattgagcggagaattctcaaaggaaagagagaaggcaaaagcacgggga
gatttccagaagctccgggagaagcagcagctggaggaggatctaaagggctacttggat
tggatcacccaagctgaggacatcgatccggagaatgaggaagaaggaggagaggaaggc
aaacgaaatactagcatgcccaccagcgagactgagtctgtgaacacagagaacgtcagc
ggtgaaggcgagaaccgaggctgctgtggaagtctctgtcaagccatctcaaaatccaaa
ctcagccgacgctggcgtcgctggaaccgattcaatcgcagaagatgtagggccgccgtg
aagtctgtcacgttttactggctggttatcgtcctggtgtttctgaacaccttaaccatt
tcctctgagcactacaatcagccagattggttgacacagattcaagatattgccaacaaa
gtcctcttggctctgttcacctgcgagatgctggtaaaaatgtacagcttgggcctccaa
gcatatttcgtctctcttttcaaccggtttgattgcttcgtggtgtgtggtggaatcact
gagacgatcttggtggaactggaaatcatgtctcccctggggatctctgtgtttcggtgt
gtgcgcctcttaagaatcttcaaagtgaccaggcactggacttccctgagcaacttagtg
gcatccttattaaactccatgaagtccatcgcttcgctgttgcttctgctttttctcttc
attatcatcttttccttgcttgggatgcagctgtttggcggcaagtttaattttgatgaa
acgcaaaccaagcggagcacctttgacaatttccctcaagcacttctcacagtgttccag
atcctgacaggcgaagactggaatgctgtgatgtacgatggcatcatggcttacgggggc
ccatcctcttcaggaatgatcgtctgcatctacttcatcatcctcttcatttgtggtaac
tatattctactgaatgtcttcttggccatcgctgtagacaatttggctgatgctgaaagt
ctgaacactgctcagaaagaagaagcggaagaaaaggagaggaaaaagattgccagaaaa
gagagcctagaaaataaaaagaacaacaaaccagaagtcaaccagatagccaacagtgac
aacaaggttacaattgatgactatagagaagaggatgaagacaaggacccctatccgcct
tgcgatgtgccagtaggggaagaggaagaggaagaggaggaggatgaacctgaggttcct
gccggaccccgtcctcgaaggatctcggagttgaacatgaaggaaaaaattgcccccatc
cctgaagggagcgctttcttcattcttagcaagaccaacccgatccgcgtaggctgccac
aagctcatcaaccaccacatcttcaccaacctcatccttgtcttcatcatgctgagcagc
gctgccctggccgcagaggaccccatccgcagccactccttccggaacacgatactgggt
tactttgactatgccttcacagccatctttactgttgagatcctgttgaagatgacaact
tttggagctttcctccacaaaggggccttctgcaggaactacttcaatttgctggatatg
ctggtggttggggtgtctctggtgtcatttgggattcaatccagtgccatctccgttgtg
aagattctgagggtcttaagggtcctgcgtcccctcagggccatcaacagagcaaaagga
cttaagcacgtggtccagtgcgtcttcgtggccatccggaccatcggcaacatcatgatc
gtcaccaccctcctgcagttcatgtttgcctgtatcggggtccagttgttcaaggggaag
ttctatcgctgtacggatgaagccaaaagtaaccctgaagaatgcaggggacttttcatc
ctctacaaggatggggatgttgacagtcctgtggtccgtgaacggatctggcaaaacagt
gatttcaacttcgacaacgtcctctctgctatgatggcgctcttcacagtctccacgttt
gagggctggcctgcgttgctgtataaagccatcgactcgaatggagagaacatcggccca
atctacaaccaccgcgtggagatctccatcttcttcatcatctacatcatcattgtagct
ttcttcatgatgaacatctttgtgggctttgtcatcgttacatttcaggaacaaggagaa
aaagagtataagaactgtgagctggacaaaaatcagcgtcagtgtgttgaatacgccttg
aaagcacgtcccttgcggagatacatccccaaaaacccctaccagtacaagttctggtac
gtggtgaactcttcgcctttcgaatacatgatgtttgtcctcatcatgctcaacacactc
tgcttggccatgcagcactacgagcagtccaagatgttcaatgatgccatggacattctg
aacatggtcttcaccggggtgttcaccgtcgagatggttttgaaagtcatcgcatttaag
cctaaggggtattttagtgacgcctggaacacgtttgactccctcatcgtaatcggcagc
attatagacgtggccctcagcgaagcagacccaactgaaagtgaaaatgtccctgtccca
actgctacacctgggaactctgaagagagcaatagaatctccatcacctttttccgtctt
ttccgagtgatgcgattggtgaagcttctcagcaggggggaaggcatccggacattgctg
tggacttttattaagtcctttcaggcgctcccgtatgtggccctcctcatagccatgctg
ttcttcatctatgcggtcattggcatgcagatgtttgggaaagttgccatgagagataac
aaccagatcaataggaacaataacttccagacgtttccccaggcggtgctgctgctcttc
aggtgtgcaacaggtgaggcctggcaggagatcatgctggcctgtctcccagggaagctc
tgtgaccctgagtcagattacaaccccggggaggagtatacatgtgggagcaactttgcc
attgtctatttcatcagtttttacatgctctgtgcatttctgatcatcaatctgtttgtg
gctgtcatcatggataatttcgactatctgacccgggactggtctattttggggcctcac
catttagatgaattcaaaagaatatggtcagaatatgaccctgaggcaaagggaaggata
aaacaccttgatgtggtcactctgcttcgacgcatccagcctcccctggggtttgggaag
ttatgtccacacagggtagcgtgcaagagattagttgccatgaacatgcctctcaacagt
gacgggacagtcatgtttaatgcaaccctgtttgctttggttcgaacggctcttaagatc
aagaccgaagggaacctggagcaagctaatgaagaacttcgggctgtgataaagaaaatt
tggaagaaaaccagcatgaaattacttgaccaagttgtccctccagctggtgatgatgag
gtaaccgtggggaagttctatgccactttcctgatacaggactactttaggaaattcaag
aaacggaaagaacaaggactggtgggaaagtaccctgcgaagaacaccacaattgcccta
caggcgggattaaggacactgcatgacattgggccagaaatccggcgtgctatatcgtgt
gatttgcaagatgacgagcctgaggaaacaaaacgagaagaagaagatgatgtgttcaaa
agaaatggtgccctgcttggaaaccatgtcaatcatgttaatagtgataggagagattcc
cttcagcagaccaataccacccaccgtcccctgcatgtccaaaggccttcaattccacct
gcaagtgatactgagaaaccgctgtttcctccagcaggaaattcggtgtgtcataaccat
cataaccataattccataggaaagcaagttcccacctcaacaaatgccaatctcaataat
gccaatatgtccaaagctgcccatggaaagcggcccagcattgggaaccttgagcatgtg
tctgaaaatgggcatcattcttcccacaagcatgaccgggagcctcagagaaggtccagt
gtgaaaagaacccgctattatgaaacttacattaggtccgactcaggagatgaacagctc
ccaactatttgccgggaagacccagagatacatggctatttcagggacccccactgcttg
ggggagcaggagtatttcagtagtgaggaatgctacgaggatgacagctcgcccacctgg
agcaggcaaaactatggctactacagcagatacccaggcagaaacatcgactctgagagg
ccccgaggctaccatcatccccaaggattcttggaggacgatgactcgcccgtttgctat
gattcacggagatctccaaggagacgcctactacctcccaccccagcatcccaccggaga
tcctccttcaactttgagtgcctgcgccggcagagcagccaggaagaggtcccgtcgtct
cccatcttcccccatcgcacggccctgcctctgcatctaatgcagcaacagatcatggca
gttgccggcctagattcaagtaaagcccagaagtactcaccgagtcactcgacccggtcg
tgggccacccctccagcaacccctccctaccgggactggacaccgtgctacacccccctg
atccaagtggagcagtcagaggccctggaccaggtgaacggcagcctgccgtccctgcac
cgcagctcctggtacacagacgagcccgacatctcctaccggactttcacaccagccagc
ctgactgtccccagcagcttccggaacaaaaacagcgacaagcagaggagtgcggacagc
ttggtggaggcagtcctgatatccgaaggcttgggacgctatgcaagggacccaaaattt
gtgtcagcaacaaaacacgaaatcgctgatgcctgtgacctcaccatcgacgagatggag
agtgcagccagcaccctgcttaatgggaacgtgcgtccccgagccaacggggatgtgggc
cccctctcacaccggcaggactatgagctacaggactttggtcctggctacagcgacgaa
gagccagaccctgggagggatgaggaggacctggcggatgaaatgatatgcatcaccacc
ttgtag

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