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.
View complete mutation data:
Gene Ontology (GO)
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 Services
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 |
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