STX7: Syntaxin 7 Gene
A key SNARE protein involved in vesicle trafficking and membrane fusion
Gene Information Card
| Symbol | STX7 |
|---|---|
| Full Name | syntaxin 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 8417 ncbi.nlm.nih.gov/gene/8417 |
| Ensembl ID | ENSG00000111897 |
| UniProt ID | O15400 |
| OMIM ID | 603216 |
| HGNC ID | 11438 |
| Aliases | syntaxin-7, STX7A |
Description
STX7 encodes syntaxin 7, a member of the syntaxin family of SNARE proteins. Syntaxin 7 is localized to early and late endosomes and is critical for homotypic endosome fusion and vesicle trafficking. It forms a complex with VTI1B, VAMP8, and STX8 to mediate membrane fusion events in the endocytic pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders | Impaired endosomal trafficking due to STX7 dysfunction may contribute to protein aggregation and neuronal cell death. | PMID: 25664854 |
| Cancer (e.g., breast, lung) | Altered STX7 expression affects vesicle transport, potentially influencing cell proliferation, invasion, and metastasis. | PMID: 29367642 |
| Infectious diseases (e.g., bacterial entry) | STX7-mediated endosome fusion is exploited by pathogens for intracellular survival. | PMID: 21536856 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 15.3 | Medium |
| Liver | 10.1 | Medium |
| Kidney | 14.8 | Medium |
| Heart | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | High expression |
| HEK293 | 16.4 | High expression |
| A549 | 14.2 | Medium expression |
| MCF7 | 12.9 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon, reduced protein expression |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Altered SNARE domain, possible trafficking defect |
| c.568G>A (p.Glu190Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the SNARE domain or start codon may impair endosome fusion, leading to defective vesicle trafficking.
Gain of Function (GOF)
Not reported for STX7.
Dominant Negative (DN)
Not reported for STX7.
View complete mutation data:
Gene Ontology (GO)
| • GO:0006886 - intracellular protein transport | • GO:0006906 - vesicle fusion |
| • GO:0016192 - vesicle-mediated transport | • GO:0048278 - vesicle docking |
| • GO:0005484 - SNAP receptor activity |
Pathways
• Endosomal SNARE complex assembly (R-HSA-421837)
• Vesicle-mediated transport (R-HSA-5653656)
• Endocytosis (R-HSA-199991)
Protein Summary
Syntaxin 7 is a 261-amino acid protein with a C-terminal transmembrane domain and a central SNARE motif. It localizes to endosomal membranes and forms a complex with VTI1B, VAMP8, and STX8 to mediate homotypic fusion of early and late endosomes. The protein is widely expressed, with highest levels in brain and lung. Dysregulation of STX7 is implicated in neurodegenerative diseases, cancer, and infectious processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX7 Knockout HEK293 Cell Line | EDJ-KQ6232 | Human | 8417 | Details Get a Quote |
| STX7 Knockout A-549 Cell Line | EDJ-KQ30075 | Human | 8417 | Details Get a Quote |
| STX7 Knockout HeLa Cell Line | EDJ-KQ30077 | Human | 8417 | Details Get a Quote |
| STX7 Knockout HCT 116 Cell Line | EDJ-KQ28773 | Human | 8417 | Details Get a Quote |
| SNAP23 and STX7 Knockout HEK293T Cell Line | EDC07670 | Human | 8773 and 8417 | Details Get a Quote |
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