STX18: Syntaxin 18 Gene
Key regulator of endoplasmic reticulum membrane fusion and vesicle trafficking
Gene Information Card
| Symbol | STX18 |
|---|---|
| Full Name | Syntaxin 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 53407 ncbi.nlm.nih.gov/gene/53407 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9P2W9 |
| OMIM ID | 620360 |
| HGNC ID | 11434 |
| Aliases | SYN18, STX18A, STX18B |
Description
STX18 (syntaxin 18) is a protein-coding gene located on chromosome 4p16.1. It encodes a member of the syntaxin family of SNARE proteins, which are essential for intracellular membrane fusion. Syntaxin 18 specifically localizes to the endoplasmic reticulum (ER) and is involved in ER-Golgi transport, ER membrane fusion, and the maintenance of ER structure. The protein interacts with other SNAREs such as BNIP1, p31, and Sec22b to mediate fusion events.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM as of 2025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Low |
| Brain | 12.5 | Medium |
| Liver | 15.3 | Medium |
| Pancreas | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| HepG2 | 16.5 | Liver cancer cells |
| K562 | 9.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ER to Golgi vesicle-mediated transport (Reactome: R-HSA-199977)
• Membrane trafficking (Reactome: R-HSA-199991)
• SNARE interactions in vesicular transport (KEGG: hsa04130)
Protein Summary
Syntaxin 18 is a 335-amino acid protein (UniProt Q9P2W9) with a molecular weight of approximately 38 kDa. It contains a C-terminal transmembrane domain that anchors it to the ER membrane and a SNARE domain that mediates interactions with other SNARE proteins. Syntaxin 18 forms a complex with BNIP1, p31, and Sec22b to facilitate homotypic ER membrane fusion and ER-Golgi transport. It is ubiquitously expressed with higher levels in testis and liver.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
