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Ryanodine receptor 2
From Wikipedia, the free encyclopedia
Ryanodine receptor 2 (RYR2) is a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.[1][2][3]
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Function [edit]
The RYR2 protein functions as a component of a calcium channel that supplies ions to the cardiac muscle. The channel is composed of RYR2 tetramers and FK506-binding proteins found in a 1:4 stoichiometric ratio. Calcium channel function is affected by the specific type of FK506 isomer interacting with the RYR2 protein, due to binding differences and other factors.[4] RYR2 channels control many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their most studied role in cardiomyocyte contraction.[5]
Clinical significance [edit]
Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.[6]
Mice with genetically reduced Ryr2 exhibit a lower basal heart rate and fatal arrythmias.[7]
See also [edit]
Interactions [edit]
Ryanodine receptor 2 has been shown to interact with:
References [edit]
- ^ Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (September 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.
- ^ Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC, MacLennan DH (October 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.
- ^ Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A (February 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. doi:10.1093/hmg/10.3.189. PMID 11159936.
- ^ Guo T, Cornea RL, Huke S, Camors E, Yang Y, Picht E, Fruen BR, Bers DM (June 2010). "Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks". Circ. Res. 106 (11): 1743–52. doi:10.1161/CIRCRESAHA.110.219816. PMC 2895429. PMID 20431056.
- ^ Bround, Michael; Michael Rich Wambolt, Dan S. Luciani, Jerzy E. Kulpa, Brian Rodrigues, Roger W. Brownsey, Michael F. Allard, James D. Johnson (15). "Cardiomyocyte ATP production, metabolic flexibility, and survival require calcium flux through cardiac ryanodine receptors in vivo". Journal of Biological Chemistry. PMID 23678000.
- ^ "Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)".
- ^ Bround MJ, Asghari P, Wambolt RB, Bohunek L, Smits C, Philit M, Kieffer TJ, Lakatta EG, Boheler KR, Moore ED, Allard MF, Johnson JD (September 2012). "Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice". Cardiovasc. Res. doi:10.1093/cvr/cvs260. PMID 22869620.
- ^ a b c d Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR (May 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8. PMID 10830164.
- ^ Marx SO, Reiken S, Hisamatsu Y, Gaburjakova M, Gaburjakova J, Yang YM, Rosemblit N, Marks AR (May 2001). "Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippers". J. Cell Biol. 153 (4): 699–708. doi:10.1083/jcb.153.4.699. PMC 2192391. PMID 11352932.
- ^ Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW, Fishman GI (November 1995). "Association of sorcin with the cardiac ryanodine receptor". J. Biol. Chem. 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. PMID 7592856.
Further reading [edit]
- Ogawa Y, Kurebayashi N, Murayama T (1999). "Ryanodine receptor isoforms in excitation-contraction coupling". Adv. Biophys. 36: 27–64. doi:10.1016/S0065-227X(99)80004-5. 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. doi:10.2741/marks. PMID 11897558.
- Danieli GA, Rampazzo A (2002). "Genetics of arrhythmogenic right ventricular cardiomyopathy". Curr. Opin. Cardiol. 17 (3): 218–21. doi:10.1097/00001573-200205000-00002. 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. doi:10.1385/CBB:40:2:207. PMID 15054223.
- Meyers MB, Pickel VM, Sheu SS et al. (1995). "Association of sorcin with the cardiac ryanodine receptor". J. Biol. Chem. 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. PMID 7592856.
- 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. doi:10.1093/hmg/4.11.2151. 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) (Pt 2): 477–87. PMC 1217646. 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) (Pt 3): 777–83. PMC 1218255. 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. doi:10.1016/S0306-4522(97)00612-X. 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. doi:10.1016/S0304-3940(00)01046-6. 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. doi:10.1016/S0092-8674(00)80847-8. 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.
- 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.
External links [edit]
- GeneReviews/NCBI/NIH/UW entry on Catecholaminergic Polymorphic Ventricular Tachycardia
- GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- RYR2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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