STIM2: Stromal Interaction Molecule 2

Key regulator of calcium homeostasis and store-operated calcium entry

Gene Information Card

Symbol STIM2
Full Name Stromal Interaction Molecule 2
Gene Type Protein coding
Chromosomal Location 4p15.1
NCBI Gene ID 57620 ncbi.nlm.nih.gov/gene/57620
Ensembl ID ENSG00000182578
UniProt ID Q9P246
OMIM ID 610841
HGNC ID 16986
Aliases KIAA1482, STIM2, FLJ11856

Description

STIM2 (Stromal Interaction Molecule 2) is a gene encoding a protein that functions as a calcium sensor in the endoplasmic reticulum. It plays a critical role in store-operated calcium entry (SOCE) by sensing depletion of ER calcium stores and activating calcium channels in the plasma membrane. STIM2 is essential for maintaining basal calcium levels and regulating cellular signaling pathways.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Immunodeficiency Impaired SOCE due to STIM2 mutations leads to defective T-cell activation and immune response ClinVar, PMID: 25726036
Autoimmune disorders Dysregulated calcium signaling from STIM2 variants may contribute to autoimmunity OMIM, PMID: 28436449
Cancer Altered STIM2 expression affects calcium-dependent proliferation and metastasis COSMIC, PMID: 25636800

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Liver 6.1 Low
Lung 9.7 Medium
Kidney 7.4 Low
Spleen 11.2 Medium
Testis 15.8 High
Cell Line Expression
Cell Line nTPM Notes
HEK293 14.2 High expression
Jurkat T-cells 10.5 Moderate expression
HeLa 9.8 Moderate expression
K562 7.3 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.343C>T (p.Arg115Trp) Missense Rare Reduced SOCE activity
c.512G>A (p.Arg171Gln) Missense Rare Impaired calcium sensing
c.1000delA Frameshift Very rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Mutations that impair STIM2's ability to sense ER calcium or activate Orai channels, leading to reduced SOCE.

Gain of Function (GOF)

Not well documented; potential mutations causing constitutive activation of calcium entry.

Dominant Negative (DN)

Some missense variants may interfere with wild-type STIM2 function, reducing overall SOCE.

Pathways

Store-operated calcium entry (SOCE) pathway
Calcium signaling pathway (KEGG: hsa04020)
Immune system signaling (Reactome: R-HSA-168249)

Protein Summary

STIM2 is a single-pass transmembrane protein localized to the endoplasmic reticulum. It contains an EF-hand domain for calcium sensing and a coiled-coil region for interaction with Orai channels. Upon ER calcium depletion, STIM2 oligomerizes and translocates to ER-plasma membrane junctions to activate calcium influx. It is more sensitive to small changes in ER calcium than STIM1, making it crucial for basal calcium homeostasis.

Related Products

Product name Cat.No. Species Gene ID
STIM2 Knockout HEK293 Cell Line EDJ-KQ1566 Human 57620 Details Get a Quote
STIM2 Knockout A-549 Cell Line EDJ-KQ19885 Human 57620 Details Get a Quote
STIM2 Knockout HCT 116 Cell Line EDJ-KQ21244 Human 57620 Details Get a Quote
STIM2 Knockout HeLa Cell Line EDJ-KQ21245 Human 57620 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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