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Gene Ontology Classifications
ryanodine receptor 2, cardiac

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ryr2. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Cerrone M et al. (2007) Arrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia. Circ Res, 101:1039-48. (PubMed:17872467)
  2. Chopra N et al. (2009) Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias. Proc Natl Acad Sci U S A, 106:7636-41. (PubMed:19383796)
  3. Fauconnier J et al. (2010) Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy. Proc Natl Acad Sci U S A, null:null. (PubMed:20080623)
  4. Fauconnier J et al. (2011) Ryanodine receptor leak mediated by caspase-8 activation leads to left ventricular injury after myocardial ischemia-reperfusion. Proc Natl Acad Sci U S A, 108:13258-63. (PubMed:21788490)
  5. Fernandez-Velasco M et al. (2011) RyRCa2+ leak limits cardiac Ca2+ window current overcoming the tonic effect of calmodulinin mice. PLoS One, 6:e20863. (PubMed:21673970)
  6. George CH et al. (2003) Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res, 93:531-40. (PubMed:12919952)
  7. Huang F et al. (2006) Analysis of calstabin2 (FKBP12.6)-ryanodine receptor interactions: rescue of heart failure by calstabin2 in mice. Proc Natl Acad Sci U S A, 103:3456-61. (PubMed:16481613)
  8. Johnson JD et al. (2004) RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets. J Biol Chem, 279:24794-802. (PubMed:15044459)
  9. Jurkovicova D et al. (2008) Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line. Ann N Y Acad Sci, 1148:421-7. (PubMed:19120137)
  10. Kaya L et al. (2013) Direct association of the reticulon protein RTN1A with the ryanodine receptor 2 in neurons. Biochim Biophys Acta, 1833:1421-33. (PubMed:23454728)
  11. Lehnart SE et al. (2005) Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias. Cell, 123:25-35. (PubMed:16213210)
  12. Liu D et al. (2012) The inhibitory glutathione transferase M2-2 binding site is located in divergent region 3 of the cardiac ryanodine receptor. Biochem Pharmacol, 83:1523-9. (PubMed:22406107)
  13. Liu X et al. (2012) Role of leaky neuronal ryanodine receptors in stress- induced cognitive dysfunction. Cell, 150:1055-67. (PubMed:22939628)
  14. Liu Y et al. (2007) Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells. Proc Natl Acad Sci U S A, 104:3859-64. (PubMed:17360443)
  15. Takeda T et al. (2005) Presenilin 2 regulates the systolic function of heart by modulating Ca2+ signaling. FASEB J, 19:2069-71. (PubMed:16204356)
  16. Takeshima H et al. (1998) Embryonic lethality and abnormal cardiac myocytes in mice lacking ryanodine receptor type 2. EMBO J, 17:3309-16. (PubMed:9628868)
  17. Wang R et al. (2004) The predicted TM10 transmembrane sequence of the cardiac Ca2+ release channel (ryanodine receptor) is crucial for channel activation and gating. J Biol Chem, 279:3635-42. (PubMed:14593104)
  18. Wang YX et al. (2004) FKBP12.6 and cADPR regulation of Ca2+ release in smooth muscle cells. Am J Physiol Cell Physiol, 286:C538-46. (PubMed:14592808)
  19. Wehrens XH et al. (2003) FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell, 113:829-40. (PubMed:12837242)
  20. Xu X et al. (2010) Defective calmodulin binding to the cardiac ryanodine receptor plays a key role in CPVT-associated channel dysfunction. Biochem Biophys Res Commun, 394:660-6. (PubMed:20226167)
  21. Yamaguchi N et al. (2007) Early cardiac hypertrophy in mice with impaired calmodulin regulation of cardiac muscle Ca release channel. J Clin Invest, 117:1344-53. (PubMed:17431507)
  22. Yang HT et al. (2002) The ryanodine receptor modulates the spontaneous beating rate of cardiomyocytes during development. Proc Natl Acad Sci U S A, 99:9225-30. (PubMed:12089338)
  23. Zhang JZ et al. (2014) The arrhythmogenic human HRC point mutation S96A leads to spontaneous Ca(2+) release due to an impaired ability to buffer store Ca(2+). J Mol Cell Cardiol, 74:22-31. (PubMed:24805197)
  24. Zhang T et al. (2003) The deltaC isoform of CaMKII is activated in cardiac hypertrophy and induces dilated cardiomyopathy and heart failure. Circ Res, 92:912-9. (PubMed:12676814)
  25. Zhao M et al. (1999) Molecular identification of the ryanodine receptor pore-forming segment. J Biol Chem, 274:25971-4. (PubMed:10473538)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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