Ryanodine receptor 2

From Wikipedia, the free encyclopedia

Ryanodine receptor 2 (cardiac)

Identifiers

RYR2; ARVD2; ARVC2; VTSIP

External IDs

OMIM: 180902 MGI: 99685 HomoloGene: 37423

Gene ontology
Molecular Function:	• receptor activity • ion channel activity • ryanodine-sensitive calcium-release channel activity • calcium ion binding • calmodulin binding • calcium-release channel activity
Cellular Component:	• plasma membrane • integral to plasma membrane
Biological Process:	• ion transport • calcium ion transport • cellular calcium ion homeostasis • muscle contraction • signal transduction • regulation of heart contraction

Orthologs

Human

Mouse

n/a

Refseq

NM_001035 (mRNA)
NP_001026 (protein)

NM_023868 (mRNA)
NP_076357 (protein)

Location

Chr 1: 235.27 - 236.06 Mb

Chr 13: 11.61 - 12 Mb

Pubmed search

[1]

[2]

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.^[1]

[edit] See also

Ryanodine receptor

[edit] References

^ Entrez Gene: RYR2 ryanodine receptor 2 (cardiac).

[edit] Further reading

Ogawa Y, Kurebayashi N, Murayama T (1999). "Ryanodine receptor isoforms in excitation-contraction coupling.". Adv. Biophys. 36: 27–64. PMID 10463072.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Chambers P, Neal DE, Gillespie JI (1999). "Ryanodine receptors in human bladder smooth muscle.". Exp. Physiol. 84 (1): 41–6. PMID 10081705.
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.
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.
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.
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.
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.
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.