Ryanodine receptor 2

Ryanodine receptor 2 (cardiac)
Identifiers
Symbols	RYR2 ; ARVD2; ARVC2; VTSIP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37423
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Ryanodine receptor 2 (cardiac), also known as RYR2, is a human gene.

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.

See also

• Ryanodine receptor

Further reading

• Ogawa Y, Kurebayashi N, Murayama T (1999). "Ryanodine receptor isoforms in excitation-contraction coupling". Adv. Biophys. 36: 27–64. PMID 10463072.CS1 maint: Multiple names: authors list (link)
• Marks AR, Priori S, Memmi M; et al. (2002). "Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia". J. Cell. Physiol. 190 (1): 1–6. doi:10.1002/jcp.10031. PMID 11807805.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marks AR (2002). "Ryanodine receptors, FKBP12, and heart failure". Front. Biosci. 7: d970–7. PMID 11897558.
• Danieli GA, Rampazzo A (2002). "Genetics of arrhythmogenic right ventricular cardiomyopathy". Curr. Opin. Cardiol. 17 (3): 218–21. PMID 12015469.
• Ma J, Hayek SM, Bhat MB (2005). "Membrane topology and membrane retention of the ryanodine receptor calcium release channel". Cell Biochem. Biophys. 40 (2): 207–24. PMID 15054223.CS1 maint: Multiple names: authors list (link)
• Otsu K, Willard HF, Khanna VK; et al. (1990). "Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum". J. Biol. Chem. 265 (23): 13472–83. PMID 2380170.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meyers MB, Pickel VM, Sheu SS; et al. (1995). "Association of sorcin with the cardiac ryanodine receptor". J. Biol. Chem. 270 (44): 26411–8. PMID 7592856.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Otsu K, Fujii J, Periasamy M; et al. (1993). "Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes". Genomics. 17 (2): 507–9. doi:10.1006/geno.1993.1357. PMID 8406504.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rampazzo A, Nava A, Erne P; et al. (1996). "A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43". Hum. Mol. Genet. 4 (11): 2151–4. PMID 8589694.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tunwell RE, Wickenden C, Bertrand BM; et al. (1996). "The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis". Biochem. J. 318 ( Pt 2): 477–87. PMID 8809036.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Awad SS, Lamb HK, Morgan JM; et al. (1997). "Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium". Biochem. J. 322 ( Pt 3): 777–83. PMID 9148749.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Martin C, Chapman KE, Seckl JR, Ashley RH (1998). "Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum". Neuroscience. 85 (1): 205–16. PMID 9607712.CS1 maint: Multiple names: authors list (link)
• Chambers P, Neal DE, Gillespie JI (1999). "Ryanodine receptors in human bladder smooth muscle". Exp. Physiol. 84 (1): 41–6. PMID 10081705.CS1 maint: Multiple names: authors list (link)
• Mori F, Fukaya M, Abe H; et al. (2000). "Developmental changes in expression of the three ryanodine receptor mRNAs in the mouse brain". Neurosci. Lett. 285 (1): 57–60. PMID 10788707.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marx SO, Reiken S, Hisamatsu Y; et al. (2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell. 101 (4): 365–76. PMID 10830164.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Laitinen PJ, Brown KM, Piippo K; et al. (2001). "Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia". Circulation. 103 (4): 485–90. PMID 11157710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tiso N, Stephan DA, Nava A; et al. (2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Hum. Mol. Genet. 10 (3): 189–94. PMID 11159936.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Priori SG, Napolitano C, Tiso N; et al. (2004). "Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia". Circulation. 103 (2): 196–200. PMID 11208676.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jeyakumar LH, Ballester L, Cheng DS; et al. (2001). "FKBP binding characteristics of cardiac microsomes from diverse vertebrates". Biochem. Biophys. Res. Commun. 281 (4): 979–86. doi:10.1006/bbrc.2001.4444. PMID 11237759.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)