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): 10345
Entry
10345             CDS       T01001                                 
Symbol
TRDN, CARDAR, CPVT5, TDN, TRISK
Name
(RefSeq) triadin
  KO
K23449  triadin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
Network
nt06528  Calcium signaling
  Element
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H01019  Catecholaminergic polymorphic ventricular tachycardia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    10345 (TRDN)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10345 (TRDN)
SSDB
Motif
Pfam: Asp-B-Hydro_N
Other DBs
NCBI-GeneID: 10345
NCBI-ProteinID: NP_006064
OMIM: 603283
HGNC: 12261
Ensembl: ENSG00000186439
UniProt: Q13061
LinkDB
Position
6:complement(123216339..123636950)
AA seq 729 aa
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTFSSPAAWLLVIALIITW
SAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEE
DDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQTKVTHKEKEKGKEKVREKEKP
EKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV
QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQAS
RPTPASPALEEKEGEKKKAEKKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQ
GTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKKEKHVEPAKSPKKEHSVPSDK
QVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE
EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQI
HKQDIVKPEKTVSHGKPEEKVLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPT
PKGTSEVTESGKKKTEISEKESKEKADMKHLREEKVSTRKESLQLHNVTKAEKPARVSKD
VEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN
SPGQKQQGQ
NT seq 2190 nt   +upstreamnt  +downstreamnt
atgactgagatcactgctgaaggaaatgcatctacaaccacaactgtgatagacagcaaa
aatggatctgtgcccaaatcccccggaaaagtgctgaagaggacagtcacagaagacata
gtgacgacgttcagctcccctgcagcctggcttctggtcattgccctgataatcacgtgg
tcagctgttgccatcgttatgtttgatttagtggattacaaaaacttttcagcaagctct
attgccaagattggctcagatcctttaaaactggtacgtgatgctatggaggaaaccacg
gactggatctatggcttcttttctttgttatctgacatcatctcatctgaagatgaagaa
gatgatgatggtgacgaagatactgataaaggagaaatagatgagcctcccttgagaaaa
aaagaaatacacaaagataagactgaaaaacaagagaaacctgaaaggaaaatacaaact
aaagttacacacaaagaaaaagaaaaaggaaaagaaaaagtaagagaaaaagaaaaacct
gaaaagaaagcaactcacaaggaaaaaattgagaaaaaagaaaaaccagaaacaaagaca
ctggcgaaagaacagaagaaagctaagactgcagaaaagagtgaagaaaagactaaaaag
gaagtgaaaggtggaaaacaggagaaagtgaagcaaacagctgcaaaagtaaaagaagta
cagaaaacaccatcaaaacccaaagaaaaggaggacaaagagaaagcagctgtgtcaaag
catgaacagaaagatcagtatgcattctgtcgatatatgattgacatatttgtccatggg
gatttaaaaccaggacaaagcccagccattccacctcccttaccgacagaacaagcttcc
agacccactccggcatcacctgcccttgaagaaaaagaaggggaaaagaagaaggctgag
aagaaagttacttctgaaacaaaaaagaaagaaaaagaagatatcaaaaagaaaagtgag
aaggaaactgccattgatgtggaaaaaaaagagccgggaaaagcttctgaaaccaaacaa
gggactgtaaaaattgcagcacaagcagcagctaagaaggatgaaaagaaggaagattcc
aagaaaacaaaaaaacctgcagaagtagaacaacccaagggaaaaaaacaggaaaagaaa
gaaaaacatgtggaaccagcaaagtcaccaaagaaagaacactcagttccaagtgacaaa
caagtaaaagcaaaaactgaacgagccaaagaggagattggtgcggtttcaattaaaaaa
gctgtacctggaaagaaggaagagaaaacaaccaagacagtggagcaagaaattagaaaa
gaaaaatctgggaagacttcttcaattctgaaagataaagaacctattaaagggaaagaa
gagaaagttccagcttccctaaaggaaaaagaacctgaaactaaaaaagatgaaaagatg
tccaaagcaggcaaagaagtcaagcctaaacctccacaactacaaggaaaaaaggaagag
aagccagagccccaaattaaaaaagaagcaaaaccagctatatctgaaaaagtgcaaata
cacaaacaagacatagtgaaaccagaaaagactgtttctcatggtaaaccagaagaaaaa
gttctcaagcaggtaaaagctgtcacaatagaaaaaacagccaagcccaaaccaacaaaa
aaagctgaacatcgagaaagagaacctccatctataaaaacagacaaaccaaaaccaact
ccaaaaggaacatcagaagtcacagaatcaggaaagaagaaaactgaaatatctgaaaaa
gaaagtaaagaaaaagcagacatgaagcatcttagagaagaaaaagtctcaacaagaaaa
gaaagtcttcaattacacaatgtgacaaaagcagaaaaacctgcaagagtatcaaaagat
gttgaagatgtaccagcttcaaagaaagctaaagaaggaactgaagatgtgtctcccaca
aagcagaaaagtcccatcagtttcttccagtgtgtctacttggatgggtacaatggctat
ggatttcagtttcctttcactcctgcagaccgccctggagagagctctggtcaagcaaat
tctccaggacagaagcaacaaggacagtaa

KEGG   Homo sapiens (human): 444
Entry
444               CDS       T01001                                 
Symbol
ASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
Name
(RefSeq) aspartate beta-hydroxylase
  KO
K00476  aspartate beta-hydroxylase [EC:1.14.11.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
Network
nt06528  Calcium signaling
  Element
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H02255  FDLAB syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    444 (ASPH)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    444 (ASPH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.16  peptide-aspartate beta-dioxygenase
     444 (ASPH)
SSDB
Motif
Pfam: Asp_Arg_Hydrox Asp-B-Hydro_N TPR_14 TPR_6 TPR_16 TPR_2 TPR_19 TPR_11 TPR_8 TPR_Slam SNAP ATG27 YfiO DUF2299 ANAPC3
Other DBs
NCBI-GeneID: 444
NCBI-ProteinID: NP_004309
OMIM: 600582
HGNC: 757
Ensembl: ENSG00000198363
UniProt: Q12797
Structure
LinkDB
Position
8:complement(61500556..61714592)
AA seq 758 aa
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
NT seq 2277 nt   +upstreamnt  +downstreamnt
atggcccagcgtaagaatgccaagagcagcggcaacagcagcagcagcggctccggcagc
ggtagcacgagtgcgggcagcagcagccccggggcccggagagagacaaagcatggagga
cacaagaatgggaggaaaggcggactctcaggaacttcattcttcacgtggtttatggtg
attgcattgctgggcgtctggacatctgtagctgtcgtttggtttgatcttgttgactat
gaggaagttctaggaaaactaggaatctatgatgctgatggtgatggagattttgatgtg
gatgatgccaaagttttattaggacttaaagagagatctacttcagagccagcagtcccg
ccagaagaggctgagccacacactgagcccgaggagcaggttcctgtggaggcagaaccc
cagaatatcgaagatgaagcaaaagaacaaattcagtcccttctccatgaaatggtacac
gcagaacatgttgagggagaagacttgcaacaagaagatggacccacaggagaaccacaa
caagaggatgatgagtttcttatggcgactgatgtagatgatagatttgagaccctggaa
cctgaagtatctcatgaagaaaccgagcatagttaccacgtggaagagacagtttcacaa
gactgtaatcaggatatggaagagatgatgtctgagcaggaaaatccagattccagtgaa
ccagtagtagaagatgaaagattgcaccatgatacagatgatgtaacataccaagtctat
gaggaacaagcagtatatgaacctctagaaaatgaagggatagaaatcacagaagtaact
gctccccctgaggataatcctgtagaagattcacaggtaattgtagaagaagtaagcatt
tttcctgtggaagaacagcaggaagtaccaccagaaacaaatagaaaaacagatgatcca
gaacaaaaagcaaaagttaagaaaaagaagcctaaacttttaaataaatttgataagact
attaaagctgaacttgatgctgcagaaaaactccgtaaaaggggaaaaattgaggaagca
gtgaatgcatttaaagaactagtacgcaaataccctcagagtccacgagcaagatatggg
aaggcgcagtgtgaggatgatttggctgagaagaggagaagtaatgaggtgctacgtgga
gccatcgagacctaccaagaggtggccagcctacctgatgtccctgcagacctgctgaag
ctgagtttgaagcgtcgctcagacaggcaacaatttctaggtcatatgagaggttccctg
cttaccctgcagagattagttcaactatttcccaatgatacttccttaaaaaatgacctt
ggcgtgggatacctcttgataggagataatgacaatgcaaagaaagtttatgaagaggtg
ctgagtgtgacacctaatgatggctttgctaaagtccattatggcttcatcctgaaggca
cagaacaaaattgctgagagcatcccatatttaaaggaaggaatagaatccggagatcct
ggcactgatgatgggagattttatttccacctgggggatgccatgcagagggttgggaac
aaagaggcatataagtggtatgagcttgggcacaagagaggacactttgcatctgtctgg
caacgctcactctacaatgtgaatggactgaaagcacagccttggtggaccccaaaagaa
acgggctacacagagttagtaaagtctttagaaagaaactggaagttaatccgagatgaa
ggccttgcagtgatggataaagccaaaggtctcttcctgcctgaggatgaaaacctgagg
gaaaaaggggactggagccagttcacgctgtggcagcaaggaagaagaaatgaaaatgcc
tgcaaaggagctcctaaaacctgtaccttactagaaaagttccccgagacaacaggatgc
agaagaggacagatcaaatattccatcatgcaccccgggactcacgtgtggccgcacaca
gggcccacaaactgcaggctccgaatgcacctgggcttggtgattcccaaggaaggctgc
aagattcgatgtgccaacgagaccaagacctgggaggaaggcaaggtgctcatctttgat
gactcctttgagcacgaggtatggcaggatgcctcatctttccggctgatattcatcgtg
gatgtgtggcatccggaactgacaccacagcagagacgcagccttccagcaatttag

KEGG   Homo sapiens (human): 844
Entry
844               CDS       T01001                                 
Symbol
CASQ1, CASQ, CSQ1, PDIB1, VMCQA
Name
(RefSeq) calsequestrin 1
  KO
K23468  calsequestrin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528  Calcium signaling
  Element
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H02320  Vacuolar myopathy with CASQ1 aggregates
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    844 (CASQ1)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6 OST3_OST6 TXNDC16_N Thioredoxin
Other DBs
NCBI-GeneID: 844
NCBI-ProteinID: NP_001222
OMIM: 114250
HGNC: 1512
Ensembl: ENSG00000143318
UniProt: P31415
Structure
LinkDB
Position
1:160190575..160201886
AA seq 396 aa
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNV
FKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKK
LGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEI
KLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPV
TIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWME
MDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD
NT seq 1191 nt   +upstreamnt  +downstreamnt
atgagtgctacagacaggatggggcccagagctgtgccgggtctgcggctggcactgctg
ttgctgctggtgctagggacacccaagtcaggggtacaggggcaggaagggctggacttc
cctgagtacgatggtgtggaccgtgtgatcaatgtcaatgcaaagaactacaagaatgtg
ttcaagaagtatgaggtgctggcactcctctaccatgaaccccccgaggatgacaaggcc
tcacaaagacaatttgagatggaggagctgatcctggagttagcagcccaagtcctagaa
gacaagggtgttggcttcgggctggtagactctgagaaggatgcagctgtggccaagaaa
ctaggcctaactgaagtggacagcatgtatgtattcaagggagatgaagtcattgagtac
gatggcgagttttctgctgacaccatcgtggagtttctgcttgatgtcctagaggaccct
gtggaattgattgaaggtgaacgagagctgcaggcgtttgagaatattgaggatgagatc
aaactcattggctacttcaagagcaaagactcagagcattacaaagccttcgaggatgca
gctgaggagtttcatccctacatccccttcttcgccaccttcgacagcaaggtggcaaag
aagctgaccctgaagctgaatgagattgatttctacgaggccttcatggaagagcctgtg
accatcccagacaagcccaatagcgaagaggagattgtcaacttcgtggaggagcacagg
agatcaaccctgaggaaactgaagccggagagtatgtatgagacctgggaggatgatatg
gatggaatccacattgtggccttcgcagaggaagctgatcctgatggtttcgagttctta
gagactctcaaggctgtggcccaagataacactgaaaacccagatcttagcatcatctgg
attgaccctgatgacttccccctgctggtcccatactgggagaagacgtttgacatcgac
ttgtcagccccacaaataggagtcgtcaatgttactgatgcggatagcgtatggatggaa
atggacgatgaggaggacctgccttctgctgaggagctggaggactggctggaggatgtc
ctggagggcgagatcaacacagaggacgatgacgatgatgatgatgactag

KEGG   Homo sapiens (human): 845
Entry
845               CDS       T01001                                 
Symbol
CASQ2, PDIB2
Name
(RefSeq) calsequestrin 2
  KO
K23445  calsequestrin 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
Network
nt06528  Calcium signaling
  Element
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H01019  Catecholaminergic polymorphic ventricular tachycardia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    845 (CASQ2)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    845 (CASQ2)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6
Other DBs
NCBI-GeneID: 845
NCBI-ProteinID: NP_001223
OMIM: 114251
HGNC: 1513
Ensembl: ENSG00000118729
UniProt: O14958
Structure
LinkDB
Position
1:complement(115700021..115768714)
AA seq 399 aa
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPV
SSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGD
RTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYK
AFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF
VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD
LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELED
WIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE
NT seq 1200 nt   +upstreamnt  +downstreamnt
atgaagagaactcacttgtttattgtggggatttattttctgtcctcttgcagggcagaa
gaggggcttaatttccccacatatgatgggaaggaccgagtggtaagtctttccgagaag
aacttcaagcaggttttaaagaaatatgacttgctttgcctctactaccatgagccggtg
tcttcagataaggtcacgcaaaaacagttccaactgaaagaaatcgtgcttgagcttgtg
gcccaggtccttgaacataaagctataggctttgtgatggtggatgccaagaaagaagcc
aagcttgccaagaaactgggttttgatgaagaaggaagcctgtatattcttaagggtgat
cgcacaatagagtttgatggcgagtttgcagctgatgtcttggtggagttcctcttggat
ctaattgaagacccagtggagatcatcagcagcaaactggaagtccaagccttcgaacgc
attgaagactacatcaaactcattggctttttcaagagtgaggactcagaatactacaag
gcttttgaagaagcagctgaacacttccagccttacatcaaattctttgccacctttgac
aaaggggttgcaaagaaattatctttgaagatgaatgaggttgacttctatgagccattt
atggatgagcccattgccatccccaacaaaccttacacagaagaggagctggtggagttt
gtgaaggaacaccaaagacccactctacgtcgcctgcgcccagaagaaatgtttgaaaca
tgggaagatgatttgaatgggatccacattgtggcctttgcagagaagagtgatccagat
ggctacgaattcctggagatcctgaaacaggttgcccgggacaatactgacaaccccgat
ctgagcatcctgtggatcgacccggacgactttcctctgctcgttgcctactgggagaag
actttcaagattgacctattcaggccacagattggggtggtgaatgtcacagatgctgac
agtgtctggatggagattccagatgatgacgatcttccaactgctgaggagctggaggac
tggattgaggatgtgctttctggaaagataaacactgaagatgatgatgaagatgatgat
gatgatgataattctgatgaagaggataatgatgacagtgatgacgatgatgatgaatag

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