GENE REFERENCE / HGNC:10484

RYR2

ryanodine receptor 2

protein-coding gene1q43Gene information

What does this gene do?

The RYR2 gene provides instructions for making a protein called ryanodine receptor 2. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells.

Channels made with the ryanodine receptor 2 protein are found in heart (cardiac) muscle cells called myocytes. These channels are embedded in the outer membrane of a cell structure called the sarcoplasmic reticulum, which acts as a storage center for calcium ions. The RYR2 channel controls the flow of calcium ions out of the sarcoplasmic reticulum.

For the heart to beat normally, the cardiac muscle must tense (contract) and relax in a coordinated way. This cycle of muscle contraction and relaxation results from the precise control of calcium ions within myocytes. In response to certain signals, the RYR2 channel releases calcium ions from the sarcoplasmic reticulum into the surrounding cell fluid (the cytoplasm). The resulting increase in calcium ion concentration triggers the cardiac muscle to contract, which pumps blood out of the heart. Calcium ions are then transported back into the sarcoplasmic reticulum, and the cardiac muscle relaxes. In this way, the release and reuptake of calcium ions in myocytes produces a regular heart rhythm.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-25. Source review: 2020-07.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal dominant	DefinitiveCatecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2022-12-14	Autosomal dominant	LimitedHereditary Cardiovascular Disease Gene Curation Expert Panel
arrhythmogenic right ventricular cardiomyopathyMONDO:0016587 · Evaluated 2019-07-19	Autosomal dominant	RefutedArrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
dilated cardiomyopathyMONDO:0005021 · Evaluated 2025-01-10	Autosomal dominant	LimitedDilated Cardiomyopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 10,305
Submissions for variants in or overlapping this gene: 22,330
Submissions explicitly reporting this gene: 22,067
Alleles reported pathogenic / likely pathogenic: 283
VariationIDs with uncertain significance: 5,118
VariationIDs with conflicting classifications: 734

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about RYR2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 283 alleles in RYR2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in RYR2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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