STX10: Syntaxin 10 Gene

A member of the syntaxin family involved in intracellular vesicle trafficking and Golgi transport

Gene Information Card

Symbol STX10
Full Name Syntaxin 10
Gene Type Protein coding
Chromosomal Location 19p13.2
NCBI Gene ID 8677 ncbi.nlm.nih.gov/gene/8677
Ensembl ID ENSG00000104872
UniProt ID O60499
OMIM ID 618639
HGNC ID 11442
Aliases Syn10, STX10A, STX10B

Description

STX10 (Syntaxin 10) is a protein-coding gene that encodes a member of the syntaxin family of SNARE proteins. Syntaxin 10 is primarily localized to the Golgi apparatus and is involved in vesicle docking and fusion, particularly in retrograde transport from endosomes to the Golgi. It plays a critical role in maintaining Golgi structure and function.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Congenital disorder of glycosylation (CDG) Impaired Golgi trafficking due to STX10 dysfunction may disrupt glycosylation pathways Limited; inferred from functional studies and rare variants in ClinVar
Cancer (pancreatic, breast) Altered STX10 expression may affect tumor cell invasion and vesicle-mediated signaling Expression data from COSMIC; mechanistic studies ongoing

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Pancreas 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
HEK293 11.5 Embryonic kidney cells
MCF7 9.8 Breast cancer cell line
HepG2 7.2 Liver cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Likely loss of start codon; functional impact unknown
c.287C>T (p.Pro96Leu) Missense <0.01% Rare variant; predicted benign by in silico tools
Mutation functional classification

Loss of Function (LOF)

Rare missense variants may reduce protein stability or SNARE complex formation, but no confirmed loss-of-function alleles reported.

Gain of Function (GOF)

No evidence of gain-of-function mutations.

Dominant Negative (DN)

Not described.

Pathways

• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Golgi-to-ER retrograde transport (Reactome: R-HSA-6811442)

Protein Summary

Syntaxin 10 is a 287-amino acid protein with a C-terminal transmembrane domain and a SNARE motif. It localizes to the Golgi and forms a SNARE complex with SNAP29 and VAMP4 to mediate endosome-to-Golgi trafficking. It is ubiquitously expressed with highest levels in brain and testis.

Related Products

Product name Cat.No. Species Gene ID
STX10 Knockout HEK293 Cell Line EDJ-KQ2566 Human 8677 Details Get a Quote
STX10 Knockout A-549 Cell Line EDJ-KQ23237 Human 8677 Details Get a Quote
STX10 Knockout HCT 116 Cell Line EDJ-KQ23238 Human 8677 Details Get a Quote
STX10 Knockout HeLa Cell Line EDJ-KQ23239 Human 8677 Details Get a Quote
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