• Gene id: 6262

Gene Summary

• Gene Symbol: RYR2   Gene   UCSC   Ensembl
• Aliases: ARVC2, ARVD2, RYR-2, RyR, VTSIP
• Gene name: ryanodine receptor 2
• Alternate names: ryanodine receptor 2, cardiac muscle ryanodine receptor-calcium release channel, cardiac-type ryanodine receptor, islet-type ryanodine receptor, kidney-type ryanodine receptor, ryanodine receptor 2 (cardiac), type 2 ryanodine receptor,
• Gene location: 1q43 (237042183: 237833987)     Exons: 107     NC_000001.11
• Gene summary(Entrez): This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B
• OMIM: 180902

Protein Summary

• Protein general information: Q92736  
  • Name: Ryanodine receptor 2 (RYR 2) (RyR2) (hRYR 2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor calcium release channel) (Type 2 ryanodine receptor)
  • Length: 4967  
  • Mass: 564567
  • Tissue specificity: Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. {ECO
• Sequence:

  MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPPDLSICTFVLEQSLSV
  RALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAILLRHSYSGMYLCCLSTSRSSTDKLAFDVGLQ
  EDTTGEACWWTIHPASKQRSEGEKVRVGDDLILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQ
  GYLIGGDVLRLLHGHMDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV
  TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSVCYIQHVDTGLWLTYQ
  SVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIRSTVFLFNRFIRGLDALSKKAKASTVDLPIE
  SVSLSLQDLIGYFHPPDEHLEHEDKQNRLRALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGES
  WKSILNSLYELLAALIRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL
  LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIFLGVSEGSAQYKKWYY
  ELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGDDLFSYGFDGLHLWSGCIARTVSSPNQHLLR
  TDDVISCCLDLSAPSISFRINGQPVQGMFENFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEA
  VLPKEKLKVEHSREYKQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL
  GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDKVKKMKLPKNYQLTSG
  YKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGIQQDVKNRRNPRLVPYTLLDDRTKKSNKDSL
  REAVRTLLGYGYNLEAPDQDHAARAEVCSGTGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPD
  QELGSDERAFAFDGFKAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG
  FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQVPSNHEHIEVTRIDG
  TIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAGGLPGAGLFGPKNDLEDYDADSDFEVLMKTA
  HGHLVPDRVDKDKEATKPEFNNHKDYAQEKPSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTST
  YYYSVRIFPGQEPANVWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR
  NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRIKNVMPLSAGLFKSEH
  KNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQCLDPLQFMSLHIPEENRSVDILELTEQEEL
  LKFHYHTLRLYSAVCALGNHRVAHALCSHVDEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEY
  IVPMTEETKSITLFPDENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK
  EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEESDTLEKELSVDDAKL
  QGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRHRIEAIVAFSDDFVAKLQDNQRFRYNEVMQA
  LNMSAALTARKTKEFRSPPQEQINMLLNFKDDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTI
  RGRLLSLVEKVTYLKKKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR
  ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPNLMRALGMHETVMEVM
  VNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSYLLENSSVGLASPAMRGSTPLDVAAASVMDN
  NELALALREPDLEKVVRYLAGCGLQSCQMLVSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLI
  RRPECFGPALRGEGGNGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG
  RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGFCPDHKAAMVLFLDRV
  YGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYLCTAVLPLLTRCAPLFAGTEHHASLIDSLLH
  TVYRLSKGCSLTKAQRDSIEVCLLSICGQLRPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPG
  GWGNFGAASEEELHLSRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
  FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPYKLLSEKEKEIYRWPI
  KESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHGYSPRAIDMSNVTLSRDLHAMAEMMAENYHN
  IWAKKKKMELESKGGGNHPLLVPYDTLTAKEKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSF
  LQQLIRYVDEAHQYILEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE
  KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAFLDNAAEDLEKTMENL
  KQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGEDLILEDVQVSCYRILTSLYALGTSKSIYVER
  QRSALGECLAAFAGAFPVAFLETHLDKHNIYSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESG
  IRYTQMPHVMEVILPMLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA
  VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFTTLARDLYAFYPLLIR
  FVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFVVQNEINNMSFLITDTKSKMSKAAVSDQERK
  KMKRKGDRYSMQTSLIVAALKRLLPIGLNICAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIR
  WQMALYKDLPNRTDDTSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV
  ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKRVDPLHQLILLFSRTA
  LTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEMEKQKLLYQQARLHDRGAAEMVLQTISASKGE
  TGPMVAATLKLGIAILNGGNSTVQQKMLDYLKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGS
  GEKVLQDDEFTCDLFRFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE
  QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQDSSQIELLKELMDLQ
  KDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGVISKRDFHK
  AMESHKHYTQSETEFLLSCAETDENETLDYEEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESV
  LNYFQPFLGRIEIMGSAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM
  QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLSLKSLKKQMKKVKKMT
  VKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVEGAKKIKVAELLANMPDPTQDEVRGDGEEGE
  RKPLEAALPSEDLTDLKELTEESDLLSDIFGLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAK
  EEEKEEKEETKSEPEKAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY
  NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYVLEESSGYMEPTLRIL
  AILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQPSEDDIKGQWDRLVINTQSFPNNYWDKFVK
  RKVMDKYGEFYGRDRISELLGMDKAALDFSDAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWY
  MTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
  TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLAIIQGLIIDAFGELRD
  QQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLFFLMYLINKDETEHTGQESYVWKMYQERCWE
  FFPAGDCFRKQYEDQLN

• Structural information:
  • Protein Domains: (110..16-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (172..21-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (225..28-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (-)
  • Interpro: IPR001870  IPR013320  IPR011992  IPR002048  IPR014821   IPR005821  IPR036300  IPR016093  IPR013662  IPR000699  IPR013333  IPR003032  IPR009460  IPR035910  IPR035761  IPR035764  IPR035762  IPR003877  
  • Prosite: PS50188 PS50919
  • CDD: cd12877 cd12878 cd12879
  • PDB: 4JKQ
  • PDBsum: 4JKQ
  • DIP: 38325
  • STRING: ENSP00000355533
• Other Databases: GeneCards:  RYR2  Malacards:  RYR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005790	smooth endoplasmic reticulum	IBA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IBA	cellular component
GO:0005219	ryanodine-sensitive calcium-release channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0034704	calcium channel complex	IBA	cellular component
GO:0042383	sarcolemma	IBA	cellular component
GO:0048763	calcium-induced calcium release activity	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0005516	calmodulin binding	IDA	molecular function
GO:0005516	calmodulin binding	IDA	molecular function
GO:0005516	calmodulin binding	IDA	molecular function
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0005262	calcium channel activity	ISS	molecular function
GO:0071313	cellular response to caffeine	ISS	biological process
GO:0019722	calcium-mediated signaling	ISS	biological process
GO:0015278	calcium-release channel activity	ISS	molecular function
GO:0003143	embryonic heart tube morphogenesis	ISS	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002027	regulation of heart rate	IEA	biological process
GO:0003143	embryonic heart tube morphogenesis	IEA	biological process
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0003300	cardiac muscle hypertrophy	IEA	biological process
GO:0005219	ryanodine-sensitive calcium-release channel activity	IEA	molecular function
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0015278	calcium-release channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030017	sarcomere	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031000	response to caffeine	IEA	biological process
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0034704	calcium channel complex	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043621	protein self-association	IEA	molecular function
GO:0060401	cytosolic calcium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0071313	cellular response to caffeine	IEA	biological process
GO:0097050	type B pancreatic cell apoptotic process	IEA	biological process
GO:0097159	organic cyclic compound binding	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0010460	positive regulation of heart rate	IEA	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0071872	cellular response to epinephrine stimulus	IEA	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IEA	biological process
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling	IEA	biological process
GO:0034236	protein kinase A catalytic subunit binding	IDA	molecular function
GO:0034237	protein kinase A regulatory subunit binding	IDA	molecular function
GO:0005516	calmodulin binding	ISS	molecular function
GO:0005516	calmodulin binding	IMP	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0043924	suramin binding	IMP	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	IDA	molecular function
GO:0015278	calcium-release channel activity	IDA	molecular function
GO:0048763	calcium-induced calcium release activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0098907	regulation of SA node cell action potential	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IMP	biological process
GO:0005513	detection of calcium ion	IDA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC	biological process
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0035584	calcium-mediated signaling using intracellular calcium source	IDA	biological process
GO:0051284	positive regulation of sequestering of calcium ion	IDA	biological process
GO:0051284	positive regulation of sequestering of calcium ion	IDA	biological process
GO:0072599	establishment of protein localization to endoplasmic reticulum	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0031000	response to caffeine	IDA	biological process
GO:0034704	calcium channel complex	IDA	cellular component
GO:0034704	calcium channel complex	IDA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IDA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IDA	biological process
GO:0051775	response to redox state	IDA	biological process
GO:0060402	calcium ion transport into cytosol	IDA	biological process
GO:0071313	cellular response to caffeine	IDA	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IC	biological process
GO:1901896	positive regulation of ATPase-coupled calcium transmembrane transporter activity	IDA	biological process
GO:0001666	response to hypoxia	ISS	biological process
GO:0010460	positive regulation of heart rate	ISS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0071872	cellular response to epinephrine stimulus	TAS	biological process
GO:0086005	ventricular cardiac muscle cell action potential	ISS	biological process
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling	ISS	biological process
GO:0071872	cellular response to epinephrine stimulus	ISS	biological process
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0098904	regulation of AV node cell action potential	IMP	biological process
GO:0035994	response to muscle stretch	IMP	biological process
GO:0098735	positive regulation of the force of heart contraction	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0003300	cardiac muscle hypertrophy	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	cellular component
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	ISS	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0070296	sarcoplasmic reticulum calcium ion transport	TAS	biological process
GO:0097050	type B pancreatic cell apoptotic process	IMP	biological process
GO:0014850	response to muscle activity	IMP	biological process
GO:0030018	Z disc	IDA	cellular component
GO:0098910	regulation of atrial cardiac muscle cell action potential	IMP	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04260	Cardiac muscle contraction
hsa04713	Circadian entrainment
hsa04972	Pancreatic secretion
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa04911	Insulin secretion
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Catecholaminergic polymorphic ventricular tachycardia	KEGG:H01019
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Catecholaminergic polymorphic ventricular tachycardia	KEGG:H01019
Arrhythmogenic right ventricular cardiomyopathy	PMID:11159936
Arrhythmogenic right ventricular cardiomyopathy	PMID:8589694
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq