STX6 Gene (Syntaxin 6)
A key SNARE protein in endosomal trafficking and Golgi transport
Gene Information Card
| Symbol | STX6 |
|---|---|
| Full Name | Syntaxin 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 10228 ncbi.nlm.nih.gov/gene/10228 |
| Ensembl ID | ENSG00000135823 |
| UniProt ID | Q9Y6J0 |
| OMIM ID | 603888 |
| HGNC ID | 11444 |
| Aliases | STX6A, syntaxin 6A |
Description
STX6 encodes syntaxin 6, a member of the syntaxin family of SNARE proteins. Syntaxin 6 is primarily localized to the trans-Golgi network and endosomes, where it mediates vesicle docking and fusion. It plays critical roles in endosomal trafficking, Golgi-to-endosome transport, and recycling of membrane proteins. STX6 is implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered STX6 expression may disrupt vesicular trafficking, affecting cell signaling and proliferation. | COSMIC; NCBI Gene |
| Neurodegenerative diseases (e.g., Alzheimer's) | STX6 variants may impair endosomal-lysosomal pathway, contributing to protein aggregation. | ClinVar; OMIM |
| Developmental disorders | Rare STX6 mutations linked to intellectual disability and seizures. | ClinVar |
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 |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| A549 | 10.5 | Lung carcinoma cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
| SH-SY5Y | 13.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional effect |
| c.485A>G (p.Asn162Ser) | Missense | <0.01% | Potential loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and some missense variants may reduce protein stability or SNARE complex formation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-204005)
• Membrane trafficking (Reactome: R-HSA-199991)
• Endosomal/Vacuolar pathway (KEGG: hsa04142)
Protein Summary
Syntaxin 6 is a 255-amino-acid SNARE protein with a C-terminal transmembrane domain. It localizes to the trans-Golgi network and endosomes, forming complexes with other SNAREs (e.g., VTI1B, VAMP4) to mediate membrane fusion. It is essential for retrograde transport from endosomes to the Golgi and for recycling of internalized receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX6 Knockout HEK293 Cell Line | EDJ-KQ6962 | Human | 10228 | Details Get a Quote |
| STX6 Knockout HeLa Cell Line | EDJ-KQ30268 | Human | 10228 | Details Get a Quote |
| STX6 Knockout A-549 Cell Line | EDJ-KQ31644 | Human | 10228 | Details Get a Quote |
| STX6 Knockout HCT 116 Cell Line | EDJ-KQ31645 | Human | 10228 | Details Get a Quote |
