GENE REFERENCE / HGNC:1513

CASQ2

calsequestrin 2

protein-coding gene1p13.1Gene information

What does this gene do?

The CASQ2 gene provides instructions for making a protein called calsequestrin 2. This protein is found in heart (cardiac) muscle cells called myocytes, where it is involved in the storage and transport of positively charged calcium atoms (calcium ions).

Within myocytes, calsequestrin 2 is located in a cell structure called the sarcoplasmic reticulum, which acts as a storage center for calcium ions. Most of these ions are stored by attaching (binding) to calsequestrin 2. This protein also helps regulate a protein called the RYR2 channel, which 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, calcium ions stored by calsequestrin 2 in the sarcoplasmic reticulum are released 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: 2021-05-20. 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
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2022-05-10	Autosomal dominant	DisputedHereditary Cardiovascular Disease Gene Curation Expert Panel
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal recessive	DefinitiveCatecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal dominant	ModerateCatecholaminergic Polymorphic Ventricular Tachycardia 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: 913
Submissions for variants in or overlapping this gene: 1,913
Submissions explicitly reporting this gene: 1,883
Alleles reported pathogenic / likely pathogenic: 84
VariationIDs with uncertain significance: 352
VariationIDs with conflicting classifications: 46

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 CASQ2?

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 84 alleles in CASQ2 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 CASQ2.

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

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