Ryanodine receptor 2

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

PBB_Summary
section_title =
summary_text = 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 catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.cite web | title = Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6262| accessdate = ]

ee also

*Ryanodine receptor

References

Further reading

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

External links

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