Ryanodine receptor 2

Ryanodine receptor 2 (cardiac)
Identifiers
Symbols RYR2; ARVC2; ARVD2; RYR-2; VTSIP
External IDs OMIM: 180902 MGI: 99685 HomoloGene: 37423 GeneCards: RYR2 Gene
Orthologs
Species Human Mouse
Entrez 6262 20191
Ensembl ENSG00000198626 ENSMUSG00000021313
UniProt Q92736 n/a
RefSeq (mRNA) NM_001035.2 NM_023868.2
RefSeq (protein) NP_001026.2 NP_076357.2
Location (UCSC) Chr 1:
237.21 – 238.13 Mb		 Chr 13:
11.65 – 12.2 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]

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] Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.[5]

Contents

See also

Interactions

Ryanodine receptor 2 has been shown to interact with PRKACA,[6] PRKACB,[6] PRKACG,[6] SRI[7], and AKAP6.[6][8]

References

  1. ^ Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (Sep 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 (Oct 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 (Feb 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. ^ Gu, Tao; Razvan Cornea, Sabine Huke, Emmanuel Camors, Yi Yang, Eckard Picht, Bradley Fruen, and Donald Bers (Jun. 2010). "Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks". Circulation Research 106 (11): 1672–4. doi:10.1161/CIRCRESAHA.110.219816. PMC 2895429. PMID 20431056. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2895429. 
  5. ^ "Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6262. 
  6. ^ a b c d Marx, S O; Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks A R (May. 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell (UNITED STATES) 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8. ISSN 0092-8674. PMID 10830164. 
  7. ^ Meyers, M B; Pickel V M, Sheu S S, Sharma V K, Scotto K W, Fishman G I (Nov. 1995). "Association of sorcin with the cardiac ryanodine receptor". J. Biol. Chem. (UNITED STATES) 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. ISSN 0021-9258. PMID 7592856. 
  8. ^ Marx, S O; Reiken S, Hisamatsu Y, Gaburjakova M, Gaburjakova J, Yang Y M, Rosemblit N, Marks A R (May. 2001). "Phosphorylation-Dependent Regulation of Ryanodine Receptors: A Novel Role for Leucine/Isoleucine Zippers". J. Cell Biol. (United States) 153 (4): 699–708. doi:10.1083/jcb.153.4.699. ISSN 0021-9525. PMC 2192391. PMID 11352932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2192391. 

Further reading

External links