RYR2 ryanodine receptor 2 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 6262)
Symbol: RYR2
Full name: ryanodine receptor 2
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: ARVC2; ARVD2; RYR-2; RyR; VACRDS; VTSIP
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, Jul 2008]
Expression: Biased expression in heart (RPKM 47.0) and brain (RPKM 4.2)
Orthologs: mouse
Gene size: 791805bp
Exon count: 107