Entrez gene ID | | 6262 |
Official gene symbol | | RYR2 |
Full name | | ryanodine receptor 2 (cardiac) |
Aliases | | ,ARVC2,ARVD2,VTSIP, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q42.1-q43 |
Gene position | | 237205702 - 237997288 Map Viewer |
Gene orientation | | plus |
Gene size | | 791587 bp |
Gene sequence |
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OMIM ID | | 180902 |
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