STX8: Syntaxin 8 Gene
A key component of the SNARE complex involved in intracellular vesicle trafficking and membrane fusion.
Gene Information Card
| Symbol | STX8 |
|---|---|
| Full Name | Syntaxin 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 9482 ncbi.nlm.nih.gov/gene/9482 |
| Ensembl ID | ENSG00000170312 |
| UniProt ID | Q9UNK0 |
| OMIM ID | 604203 |
| HGNC ID | 11440 |
| Aliases | STX8A, STX8B, syntaxin 8 |
Description
STX8 (syntaxin 8) is a protein-coding gene that encodes a member of the syntaxin family of SNARE proteins. Syntaxin 8 is involved in intracellular vesicle trafficking and membrane fusion, particularly in the endosomal and lysosomal pathways. It forms a complex with other SNARE proteins to mediate the docking and fusion of vesicles with target membranes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 36 | Impaired vesicle trafficking affecting neuronal function | ClinVar; PMID: 27616483 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disrupted SNARE complex assembly | ClinVar; PMID: 31036916 |
| Autism spectrum disorder | Potential role in synaptic vesicle cycling | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Embryonic kidney cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
| HeLa | 8.9 | Cervical carcinoma cells |
| HepG2 | 7.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with epileptic encephalopathy |
| c.494G>A (p.Arg165His) | Missense | Rare | Impaired SNARE complex formation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, disrupting vesicle fusion.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants may interfere with SNARE complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • vesicle fusion (GO:0006906) |
| • vesicle-mediated transport (GO:0016192) | • SNARE complex (GO:0031201) |
| • vesicle docking (GO:0048278) |
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Endocytosis (KEGG: hsa04144)
• Lysosome (KEGG: hsa04142)
Protein Summary
Syntaxin 8 is a 236-amino acid protein with a C-terminal transmembrane domain and a SNARE motif. It localizes to endosomes and lysosomes, where it forms a complex with syntaxin 7, VTI1B, and VAMP8 to mediate homotypic fusion of late endosomes. The protein is ubiquitously expressed, with highest levels in brain and testis. Mutations in STX8 are associated with early infantile epileptic encephalopathy and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX8 Knockout HEK293 Cell Line | EDJ-KQ6603 | Human | 9482 | Details Get a Quote |
| STX8 Knockout A-549 Cell Line | EDJ-KQ30830 | Human | 9482 | Details Get a Quote |
| STX8 Knockout HCT 116 Cell Line | EDJ-KQ30831 | Human | 9482 | Details Get a Quote |
| STX8 Knockout HeLa Cell Line | EDJ-KQ30832 | Human | 9482 | Details Get a Quote |
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