GENE REFERENCE / HGNC:812

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

protein-coding gene12q24.11Gene information

What does this gene do?

The ATP2A2 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 2 (SERCA2). This enzyme belongs to a family of ATPase enzymes that helps control the level of positively charged calcium atoms (calcium ions) inside cells. SERCA2 is found in the endoplasmic reticulum inside the cell and in a related structure called the sarcoplasmic reticulum inside muscle cells. The endoplasmic reticulum is a structure that is involved in protein processing and transport. The sarcoplasmic reticulum assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-01-15. Source review: 2024-01.

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
epilepsyMONDO:0005027 · Evaluated 2026-06-16	Autosomal dominant	RefutedEpilepsy 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: 456
Submissions for variants in or overlapping this gene: 635
Submissions explicitly reporting this gene: 599
Alleles reported pathogenic / likely pathogenic: 108
VariationIDs with uncertain significance: 179
VariationIDs with conflicting classifications: 12

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 ATP2A2?

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 108 alleles in ATP2A2 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 ATP2A2.

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

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