AutismKB 2.0

Annotation Details for RYR2


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Basic Information Top
Gene Symbol:RYR2 ( ARVC2,ARVD2,VTSIP )
Gene Full Name: ryanodine receptor 2 (cardiac)
Band: 1q43
Quick LinksEntrez ID:6262; OMIM: 180902; Uniprot ID:RYR2_HUMAN; ENSEMBL ID: ENSG00000198626; HGNC ID: 10484
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005790IEA-smooth endoplasmic reticulum-
GO:0005886IBA-plasma membrane-
GO:0005886ISS-plasma membrane-
GO:0014701TAS-junctional sarcoplasmic reticulum membrane17569730
GO:0016020IDA-membrane12443530
GO:0016529IDA-sarcoplasmic reticulum10830164
GO:0030018IDA-Z disc19131648
GO:0030018ISS-Z disc-
GO:0033017ISS-sarcoplasmic reticulum membrane-
GO:0033017TAS-sarcoplasmic reticulum membrane19095005
GO:0034704IDA-calcium channel complex10830164
GO:0043234IDA-protein complex18468998
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005219IDA-ryanodine-sensitive calcium-release channel activity17921453
GO:0005219TAS-ryanodine-sensitive calcium-release channel activity-
GO:0005262ISS-calcium channel activity-
GO:0005509IBA-calcium ion binding-
GO:0005515IPI-protein binding10830164
GO:0005516IMP-calmodulin binding19220289
GO:0005516ISS-calmodulin binding-
GO:0015278IDA-calcium-release channel activity17921453
GO:0015278ISS-calcium-release channel activity-
GO:0019899IPI-enzyme binding16213210
GO:0034236IDA-protein kinase A catalytic subunit binding10830164
GO:0034237IDA-protein kinase A regulatory subunit binding10830164
GO:0042802IPI-identical protein binding10830164
GO:0043621IEA-protein self-association-
GO:0043924IMP-suramin binding19220289
GO:0044325ISS-ion channel binding-
GO:0048763IDA-calcium-induced calcium release activity17921453
GO ID Evidence Qualifier GO_term References
GO:0001666ISS-response to hypoxia-
GO:0002027IMP-regulation of heart rate11159936
GO:0003143ISS-embryonic heart tube morphogenesis-
GO:0003220ISS-left ventricular cardiac muscle tissue morphogenesis-
GO:0003300ISS-cardiac muscle hypertrophy-
GO:0005513IDA-detection of calcium ion10830164
GO:0006816IDA-calcium ion transport17921453
GO:0006874ISS-cellular calcium ion homeostasis-
GO:0010460ISS-positive regulation of heart rate-
GO:0010881IC-regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion19220289
GO:0010881ISS-regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion-
GO:0010882IMP-regulation of cardiac muscle contraction by calcium ion signaling17875969
GO:0014808IMP-release of sequestered calcium ion into cytosol by sarcoplasmic reticulum12919952
GO:0014808ISS-release of sequestered calcium ion into cytosol by sarcoplasmic reticulum-
GO:0014850IMP-response to muscle activity17875969
GO:0019722ISS-calcium-mediated signaling-
GO:0030509IEA-BMP signaling pathway-
GO:0031000IDA-response to caffeine17921453
GO:0034220TAS-ion transmembrane transport-
GO:0035584IDA-calcium-mediated signaling using intracellular calcium source17921453
GO:0035994IMP-response to muscle stretch15105296
GO:0051209IDA-release of sequestered calcium ion into cytosol12443530
GO:0051209ISS-release of sequestered calcium ion into cytosol-
GO:0051284IDA-positive regulation of sequestering of calcium ion12443530
GO:0051480ISS-regulation of cytosolic calcium ion concentration-
GO:0051775IDA-response to redox state19226252
GO:0055117IMP-regulation of cardiac muscle contraction11159936
GO:0060048IMP-cardiac muscle contraction10830164
GO:0060070IEA-canonical Wnt signaling pathway-
GO:0060402IDA-calcium ion transport into cytosol17921453
GO:0070296TAS-sarcoplasmic reticulum calcium ion transport19095005
GO:0071313IDA-cellular response to caffeine12919952
GO:0071313ISS-cellular response to caffeine-
GO:0071872ISS-cellular response to epinephrine stimulus-
GO:0071872TAS-cellular response to epinephrine stimulus23507255
GO:0072599IDA-establishment of protein localization to endoplasmic reticulum12443530
GO:0086005ISS-ventricular cardiac muscle cell action potential-
GO:0086029ISS-Purkinje myocyte to ventricular cardiac muscle cell signaling-
GO:0086064IC-cell communication by electrical coupling involved in cardiac conduction-
GO:0097050IMP-type B pancreatic cell apoptotic process15044459
GO:0098735IMP-positive regulation of the force of heart contraction15105296
GO:0098904IMP-regulation of AV node cell action potential17875969
GO:0098907IMP-regulation of SA node cell action potential17875969
GO:0098910IMP-regulation of atrial cardiac muscle cell action potential17875969
GO:0098911IMP-regulation of ventricular cardiac muscle cell action potential17875969
GO:1901896IDA-positive regulation of calcium-transporting ATPase activity12443530
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RYR2CACNA1C10722911576544 Reconstituted Complex
RYR2CACNA1C11217411576544 Reconstituted Complex
RYR2FKBP1B10857112446682 Reconstituted Complex
RYR2FKBP1B11217412446682 Reconstituted Complex
RYR2PPP1CA11217410830164 Co-fractionation
RYR2PPP1CA11149310830164 Co-fractionation
RYR2PPP1CB11149410830164 Co-fractionation
RYR2PPP1CB11217410830164 Co-fractionation
RYR2PPP1CC11149510830164 Co-fractionation
RYR2PPP1CC11217410830164 Co-fractionation
RYR2PRKACA11155310830164 Biochemical Activity; Co-fractionation
RYR2PRKACA11217410830164 Biochemical Activity; Co-fractionation
RYR2PRKACB11155410830164 Biochemical Activity; Co-fractionation
RYR2PRKACB11217410830164 Biochemical Activity; Co-fractionation
RYR2PRKACG11155510830164 Biochemical Activity; Co-fractionation
RYR2PRKACG11217410830164 Biochemical Activity; Co-fractionation
RYR2PRKAR2A11156210830164 Co-fractionation
RYR2PRKAR2A11217410830164 Co-fractionation
RYR2PRKAR2B11156310830164 Co-fractionation
RYR2PRKAR2B11217410830164 Co-fractionation
RYR2RYR111217312213830 Affinity Capture-Western
RYR2RYR111217412213830 Affinity Capture-Western
SRIRYR21125957592856 Affinity Capture-Western
SRIRYR21121747592856 Affinity Capture-Western
RYR2RYR211217410830164 Co-fractionation
AKAP6RYR211217410830164 11352932 Co-fractionation; Reconstituted Complex
AKAP6RYR211485710830164 11352932 Co-fractionation; Reconstituted Complex
RYR3RYR211217412213830 Affinity Capture-Western
RYR3RYR211217512213830 Affinity Capture-Western
HOMER1RYR211217412887973 Reconstituted Complex
HOMER1RYR211484512887973 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99685
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-061226-3'