STX2 (Syntaxin 2)
A member of the syntaxin family involved in vesicle trafficking and membrane fusion, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | STX2 |
|---|---|
| Full Name | Syntaxin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 2054 ncbi.nlm.nih.gov/gene/2054 |
| Ensembl ID | ENSG00000111450 |
| UniProt ID | P32856 |
| OMIM ID | 603564 |
| HGNC ID | 11438 |
| Aliases | EPM, STX2A, STX2B, STX2C |
Description
STX2 (syntaxin 2) is a protein-coding gene that belongs to the syntaxin family of SNARE proteins. It plays a critical role in vesicle docking and membrane fusion, particularly in exocytosis and intracellular trafficking. STX2 is involved in neurotransmitter release, hormone secretion, and cellular transport processes. Alternative splicing generates multiple transcript variants encoding distinct isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, progressive myoclonic | Altered vesicle fusion in neurons leading to impaired neurotransmission | OMIM: 603564 |
| Colorectal cancer | Dysregulation of STX2 expression may affect cell adhesion and invasion | COSMIC: STX2 |
| Breast cancer | Overexpression linked to poor prognosis and metastasis | COSMIC: STX2 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| A549 | 9.1 | Lung cancer cell line |
| MCF7 | 14.7 | Breast cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.553C>T (p.Arg185Trp) | Missense | <0.1% | Unknown functional effect; reported in ClinVar |
| c.1024G>A (p.Gly342Ser) | Missense | <0.1% | Likely benign |
| c.1285_1286insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1285_1286insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • vesicle-mediated transport (GO:0016192) |
| • vesicle fusion (GO:0006906) | • vesicle docking (GO:0048278) |
| • synaptic vesicle exocytosis (GO:0016079) |
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-204005)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Syntaxin 2 is a 288-amino acid protein (isoform 1) that contains a C-terminal transmembrane domain and a SNARE domain. It localizes to the plasma membrane and mediates fusion of vesicles with target membranes. It interacts with other SNARE proteins such as SNAP25 and VAMP2. Post-translational modifications include palmitoylation, which regulates membrane association.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX2 Knockout HEK293 Cell Line | EDJ-KQ4544 | Human | 2054 | Details Get a Quote |
| STX2 Knockout HCT 116 Cell Line | EDJ-KQ27169 | Human | 2054 | Details Get a Quote |
| STX2 Knockout HeLa Cell Line | EDJ-KQ27170 | Human | 2054 | Details Get a Quote |
| STX2 Knockout A-549 Cell Line | EDJ-KQ25909 | Human | 2054 | Details Get a Quote |
