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RYR2 ryanodine receptor 2

Gene ID: 6262, updated on 21-Mar-2023
Gene type: protein coding
Also known as: RyR; ARVC2; ARVD2; RYR-2; VTSIP; VACRDS


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]

Associated conditions

See all available tests in GTR for this gene

A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
Catecholaminergic polymorphic ventricular tachycardia 1See labs
Cerivastatin, genetic variants, and the risk of rhabdomyolysis.
GeneReviews: Not available
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
GeneReviews: Not available
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
GeneReviews: Not available
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
GeneReviews: Not available
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
MedGen: C5542154OMIM: 115000GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-05)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-05)

ClinGen Genome Curation Page

Genomic context

Chromosome: 1; NC_000001.11 (237042184..237833988)
Total number of exons:


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