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.

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 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
Displaying Records 1 To 5 Of 5 Records
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