STX3 Gene - Syntaxin 3
Essential regulator of vesicle fusion and membrane trafficking
Gene Information Card
| Symbol | STX3 |
|---|---|
| Full Name | Syntaxin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 6809 ncbi.nlm.nih.gov/gene/6809 |
| Ensembl ID | ENSG00000166900 |
| UniProt ID | Q13277 |
| OMIM ID | 600876 |
| HGNC ID | 11438 |
| Aliases | STX3A, MVID2 |
Description
STX3 encodes syntaxin 3, a member of the syntaxin family of SNARE proteins. Syntaxin 3 is primarily involved in the docking and fusion of vesicles with target membranes, playing a critical role in exocytosis and membrane trafficking in epithelial cells, neurons, and immune cells. Mutations in STX3 cause microvillus inclusion disease type 2 (MVID2), a severe congenital enteropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microvillus inclusion disease 2 (MVID2) | Loss-of-function mutations disrupt apical membrane trafficking in enterocytes, leading to microvillus atrophy and intractable diarrhea. | ClinVar, OMIM |
| Congenital diarrhea | Impaired SNARE-mediated vesicle fusion results in defective nutrient absorption. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Colon | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Brain | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.2 | Intestinal epithelial cell line |
| HEK 293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 5.1 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with MVID2 |
| c.445G>A (p.Gly149Arg) | Missense | Rare | Impaired SNARE complex assembly |
| c.739delC (p.Leu247Trpfs*12) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most STX3 mutations are loss-of-function, leading to defective vesicle fusion and MVID2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • syntaxin binding (GO:0019905) |
| • SNARE complex (GO:0031201) | • vesicle docking (GO:0048278) |
| • vesicle fusion (GO:0006906) |
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-446355)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
Syntaxin 3 is a 301-amino acid protein with a C-terminal transmembrane domain and a SNARE motif that mediates interactions with other SNARE proteins. It localizes to the plasma membrane and is essential for regulated exocytosis in polarized epithelial cells, particularly in the intestine. The protein forms a complex with SNAP23 and VAMP8 to facilitate vesicle fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX3 Knockout HEK293 Cell Line | EDJ-KQ5862 | Human | 6809 | Details Get a Quote |
| STX3 Knockout A-549 Cell Line | EDJ-KQ29340 | Human | 6809 | Details Get a Quote |
| STX3 Knockout HCT 116 Cell Line | EDJ-KQ29341 | Human | 6809 | Details Get a Quote |
| STX3 Knockout HeLa Cell Line | EDJ-KQ29342 | Human | 6809 | Details Get a Quote |
