Ryanodine receptor 2

From Wikipedia, the free encyclopedia
  (Redirected from RYR2)
Jump to: navigation, search
Ryanodine receptor 2 (cardiac)
Identifiers
Symbols RYR2 ; ARVC2; ARVD2; RYR-2; RyR; VTSIP
External IDs OMIM180902 MGI99685 HomoloGene37423 IUPHAR: RyR2 ChEMBL: 4403 GeneCards: RYR2 Gene
Orthologs
Species Human Mouse
Entrez 6262 20191
Ensembl ENSG00000198626 ENSMUSG00000021313
UniProt Q92736 E9Q401
RefSeq (mRNA) NM_001035 NM_023868
RefSeq (protein) NP_001026 NP_076357
Location (UCSC) Chr 1:
237.21 – 238.13 Mb
Chr 13:
11.55 – 12.11 Mb
PubMed search [1] [2]

Ryanodine receptor 2 (RYR2) is a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.[1][2][3]

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]

Interactions[edit]

Ryanodine receptor 2 has been shown to interact with:

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ Bround, Michael; Michael Rich Wambolt, Dan S. Luciani, Jerzy E. Kulpa, Brian Rodrigues, Roger W. Brownsey, Michael F. Allard, James D. Johnson (15 May 2013). "Cardiomyocyte ATP production, metabolic flexibility, and survival require calcium flux through cardiac ryanodine receptors in vivo". Journal of Biological Chemistry 288 (26): 18975–86. doi:10.1074/jbc.M112.427062. PMID 23678000. 
  6. ^ "Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)". 
  7. ^ 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. 96 (3): 372–80. doi:10.1093/cvr/cvs260. PMID 22869620. 
  8. ^ 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. 
  9. ^ 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. 
  10. ^ 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]

External links[edit]