STX4 Gene - Syntaxin 4
Key regulator of vesicle fusion and glucose transport
Gene Information Card
| Symbol | STX4 |
|---|---|
| Full Name | Syntaxin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 6810 ncbi.nlm.nih.gov/gene/6810 |
| Ensembl ID | ENSG00000103495 |
| UniProt ID | Q12846 |
| OMIM ID | 186591 |
| HGNC ID | 11439 |
| Aliases | STX4A, syntaxin-4 |
Description
STX4 encodes syntaxin 4, a member of the syntaxin family of SNARE proteins. Syntaxin 4 is primarily localized to the plasma membrane and mediates the docking and fusion of vesicles, including GLUT4-containing vesicles in response to insulin. It plays critical roles in glucose homeostasis, exocytosis in immune cells, and cell-cell fusion. Mutations or dysregulation of STX4 are associated with metabolic disorders and immune dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 diabetes mellitus | Impaired GLUT4 vesicle fusion due to reduced STX4 expression or function reduces insulin-stimulated glucose uptake in muscle and adipose tissue. | PMID: 10679457, 14561705 |
| Insulin resistance | Defective STX4-mediated exocytosis contributes to post-receptor insulin signaling defects. | PMID: 14561705 |
| Immune dysfunction | STX4 is required for cytotoxic granule exocytosis in natural killer cells and T cells; deficiency impairs immune surveillance. | PMID: 22517760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Skeletal muscle | 15.3 | Medium |
| Pancreas | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Moderate expression |
| HEK293 | 11.8 | Moderate expression |
| HepG2 | 9.5 | Low expression |
| Jurkat | 18.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function; reported in ClinVar |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown significance; not associated with disease in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in STX4 are predicted to impair vesicle fusion, leading to reduced GLUT4 translocation and potential insulin resistance.
Gain of Function (GOF)
No gain-of-function mutations have been reported for STX4.
Dominant Negative (DN)
Dominant-negative effects have not been described for STX4 mutations.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • protein kinase binding (GO:0019901) |
| • ubiquitin protein ligase binding (GO:0031625) | • vesicle docking (GO:0048278) |
| • SNARE binding (GO:0000149) | • intracellular protein transport (GO:0006886) |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• GLUT4 translocation (Reactome: R-HSA-1445148)
Protein Summary
Syntaxin 4 is a 297-amino acid plasma membrane SNARE protein that forms a complex with SNAP23 and VAMP2 to mediate vesicle fusion. It is essential for insulin-stimulated GLUT4 translocation in adipocytes and muscle cells, and for exocytosis in immune cells. The protein contains a C-terminal transmembrane domain and a SNARE motif that interacts with cognate SNAREs. Post-translational modifications include palmitoylation and phosphorylation, which regulate its localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX4 Knockout HEK293 Cell Line | EDJ-KQ3747 | Human | 6810 | Details Get a Quote |
| STX4 Knockout A-549 Cell Line | EDJ-KQ24451 | Human | 6810 | Details Get a Quote |
| STX4 Knockout HCT 116 Cell Line | EDJ-KQ25820 | Human | 6810 | Details Get a Quote |
| STX4 Knockout HeLa Cell Line | EDJ-KQ25821 | Human | 6810 | Details Get a Quote |
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