Version 5.4
Homo sapiens Gene: RYR2
Summary
InnateDB Gene IDBG-107649.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RYR2
Gene Name ryanodine receptor 2 (cardiac)
Synonyms ARVC2; ARVD2; RyR; RYR-2; VTSIP
Species Homo sapiens
Ensembl Gene ENSG00000198626
Encoded Proteins
IDBP-107651
ryanodine receptor 2 (cardiac)
IDBP-107653
ryanodine receptor 2 (cardiac)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:237042205-237833988
Strand Forward strand
Band q43
Transcripts
ENST00000366574 ENSP00000355533
ENST00000360064 ENSP00000353174
ENST00000466626
ENST00000462585
ENST00000609119
ENST00000609253
ENST00000608590
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 34 [view]
Protein-Protein 34 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005218 intracellular ligand-gated calcium channel activity
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005262 calcium channel activity
GO:0005488 binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015278 calcium-release channel activity
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0043924 suramin binding
GO:0044325 ion channel binding
GO:0048763 calcium-induced calcium release activity
Biological Process
GO:0001666 response to hypoxia
GO:0002027 regulation of heart rate
GO:0003143 embryonic heart tube morphogenesis
GO:0003220 left ventricular cardiac muscle tissue morphogenesis
GO:0003300 cardiac muscle hypertrophy
GO:0005513 detection of calcium ion
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0010460 positive regulation of heart rate
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0019722 calcium-mediated signaling
GO:0030509 BMP signaling pathway
GO:0031000 response to caffeine
GO:0034220 ion transmembrane transport
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051284 positive regulation of sequestering of calcium ion
GO:0051480 cytosolic calcium ion homeostasis
GO:0051775 response to redox state
GO:0055085 transmembrane transport
GO:0055117 regulation of cardiac muscle contraction
GO:0060048 cardiac muscle contraction
GO:0060070 canonical Wnt signaling pathway
GO:0060401 cytosolic calcium ion transport
GO:0060402 calcium ion transport into cytosol
GO:0070296 sarcoplasmic reticulum calcium ion transport
GO:0070588 calcium ion transmembrane transport
GO:0071313 cellular response to caffeine
GO:0071872 cellular response to epinephrine stimulus
GO:0072599 establishment of protein localization to endoplasmic reticulum
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0086094 positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction
GO:0097050 type B pancreatic cell apoptotic process
GO:1901896 positive regulation of calcium-transporting ATPase activity
Cellular Component
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0033017 sarcoplasmic reticulum membrane
GO:0034704 calcium channel complex
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021313
View Gene Order
ENSBTAG00000022886
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
hsa04020
Calcium signaling pathway pathway
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
hsa05410
Hypertrophic cardiomyopathy (HCM) pathway
hsa04260
Cardiac muscle contraction pathway
hsa05414
Dilated cardiomyopathy pathway
hsa04972
Pancreatic secretion pathway
INOH
PID NCI
Cross-References
SwissProt Q92736
TrEMBL D7UNU2 D7UNU3 D7UNU4 H0YGL9
UniProt Splice Variant
Entrez Gene 6262
UniGene Hs.109514 Hs.595018
RefSeq NM_001035
HUGO HGNC:10484
OMIM 180902
CCDS CCDS55691
HPRD
IMGT
EMBL AB204532 AB204533 AB204534 AJ002511 AJ300340 AJ300341 AJ300342 AJ300343 AJ300344 AJ300345 AJ300346 AJ300347 AJ300348 AJ300349 AJ300350 AJ300351 AJ300352 AJ300353 AJ300354 AJ300355 AJ300356 AJ300357 AJ300358 AJ300359 AJ300360 AJ300361 AJ300362 AJ300363 AJ300364 AJ300365 AJ300366 AJ300367 AJ300368 AJ300369 AJ300370 AJ300371 AJ300372 AJ300373 AJ300374 AJ300375 AJ300376 AJ300377 AJ300378 AJ300379 AJ300380 AJ300381 AJ300382 AJ300383 AJ300384 AJ300385 AJ300386 AJ300387 AJ300388 AJ300389 AJ300390 AJ300391 AJ300392 AJ300393 AJ300394 AJ300395 AJ300396 AJ300397 AJ300398 AJ300399 AJ300400 AJ300401 AJ300402 AJ300403 AJ300404 AJ300405 AJ300406 AJ300407 AJ300408 AJ300409 AJ300410 AJ300411 AJ300412 AJ300413 AJ300414 AJ300415 AJ300416 AJ300417 AJ300418 AJ300419 AJ300420 AJ300421 AJ300422 AJ300423 AJ300424 AJ300425 AJ300426 AJ300427 AJ300428 AJ300429 AJ300430 AJ300431 AJ300432 AJ300433 AJ300434 AJ300435 AJ300436 AJ300437 AJ300438 AJ300439 AJ300440 AJ300441 AJ300442 AJ300443 AJ300444 AL356773 AL359924 AL365332 AL391809 AL442065 AL445473 AL513130 X91869 X98330 Y08218
GenPept BAJ10285 BAJ10286 BAJ10287 CAA05502 CAA62975 CAA66975 CAA69395 CAC18855 CAH71369 CAH71393 CAH73918 CAI14440 CAI15350 CAI15936 CAI22065
RNA Seq Atlas 6262

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca