GENE REFERENCE / HGNC:11386

STIM1

stromal interaction molecule 1

protein-coding gene11p15.4Gene information

What does this gene do?

The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). The STIM1 protein is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells when levels of the ions are low, specifically through channels called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that plays a role in many cellular functions including control of gene activity, cell growth and division, and immune function.

STIM1 is found in the membrane of a cellular structure called the endoplasmic reticulum (ER), which, among other functions, stores calcium in cells. STIM1 recognizes when calcium levels in the ER are low and stimulates changes in the cell that allow STIM1 to attach (bind) to a protein called ORAI1 in the cell membrane. This protein, which is part of the CRAC channel, forms a hole (pore) in the cell membrane through which calcium ions can flow. STIM1 binding triggers the flow of calcium ions into the cell through the channel. STIM1 also likely plays a role in the process that stops the flow of calcium ions when enough calcium has entered.

STIM1 is also found in the sarcoplasmic reticulum, a structure similar to the ER that is found in muscle cells. This structure plays a major role in muscle contraction and relaxation by storing and releasing calcium ions. The STIM1 protein is thought to help replenish calcium stores in the sarcoplasmic reticulum through CRAC channels. It may also be involved in the release of calcium ions from the sarcoplasmic reticulum, which stimulates muscle contraction.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2014-09.

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
tubular aggregate myopathyMONDO:0008051 · Evaluated 2021-04-01	Autosomal dominant	DefinitiveCongenital Myopathies and Myasthenic Syndromes Gene Curation Expert Panel
combined immunodeficiency due to STIM1 deficiencyMONDO:0013008 · Evaluated 2025-08-21	Autosomal recessive	DefinitiveSCID-CID 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: 985
Submissions for variants in or overlapping this gene: 1,432
Submissions explicitly reporting this gene: 1,374
Alleles reported pathogenic / likely pathogenic: 41
VariationIDs with uncertain significance: 508
VariationIDs with conflicting classifications: 24

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 STIM1?

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 41 alleles in STIM1 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 STIM1.

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

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