RYR2 ryanodine receptor 2
Gene ID: 6262, updated on 11-Apr-2024Gene type: protein coding
Also known as: RyR; ARVC2; ARVD2; RYR-2; VTSIP; VACRDS
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- Go to complete Gene record for RYR2
- Go to Variation Viewer for RYR2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study identifies common variants associated with lipid levels in the Chinese population. GeneReviews: Not available | |
| Catecholaminergic polymorphic ventricular tachycardia 1 | See 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 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-05) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-05) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1q43
- Sequence:
- Chromosome: 1; NC_000001.11 (237042184..237833988)
- Total number of exons:
- 107
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RYR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RYR2 database
- Variation ViewerRelated Variants
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