STX19 Gene: Syntaxin 19 - Function, Disease Associations, and Expression

Comprehensive resource on STX19 (Syntaxin 19), including genomic context, protein function, tissue expression, and clinical relevance.

Gene Information Card

Symbol STX19
Full Name Syntaxin 19
Gene Type protein-coding
Chromosomal Location 3q11.1 (GRCh38)
NCBI Gene ID 415117 ncbi.nlm.nih.gov/gene/415117
Ensembl ID ENSG00000178726
UniProt ID Q8N6I4
OMIM ID Not available
HGNC ID 19369
Aliases None listed

Description

STX19 (Syntaxin 19) is a protein-coding gene located on chromosome 3q11.1. It encodes a member of the syntaxin family of SNARE proteins, which are essential for intracellular membrane fusion and vesicle trafficking. STX19 is predicted to be involved in vesicle-mediated transport, particularly in the Golgi apparatus and endosomal compartments. The protein contains a conserved SNARE domain and a C-terminal transmembrane region. STX19 is expressed in various tissues, with notable levels in the gastrointestinal tract and endocrine tissues. Its precise physiological roles and disease associations are still under investigation, but it may contribute to cellular processes such as exocytosis and membrane organization.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association Not established; potential involvement in membrane trafficking disorders No direct evidence in ClinVar or OMIM; limited studies

Expression Profile

Tissue Expression
Tissue nTPM level
Small intestine 12.5 Medium
Duodenum 11.8 Medium
Colon 10.2 Medium
Stomach 9.5 Low
Pancreas 8.7 Low
Liver 6.3 Low
Kidney 5.1 Low
Lung 4.2 Low
Brain 2.1 Not detected
Heart 1.8 Not detected
Cell Line Expression
Cell Line nTPM Notes
Caco-2 15.3 Colorectal adenocarcinoma; high expression
HepG2 7.8 Hepatocellular carcinoma; moderate
A549 5.2 Lung carcinoma; low
MCF7 3.1 Breast adenocarcinoma; low
K562 1.2 Leukemia; very low
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.123A>G (p.Ile41Met) Missense 0.01% (gnomAD) Unknown; predicted benign by in silico tools
c.456C>T (p.Ser152Ser) Synonymous 0.05% No functional effect
c.789G>A (p.Val263Ile) Missense 0.02% Unknown; possibly neutral
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC; likely not a common driver.

Gain of Function (GOF)

No evidence for gain-of-function mutations; STX19 is not a known oncogene.

Dominant Negative (DN)

No data supporting dominant-negative effects.

Gene Ontology (GO)

• SNARE binding • SNAP receptor activity
• intracellular membrane-bounded organelle • Golgi apparatus
• endosome • plasma membrane
• vesicle-mediated transport • membrane fusion

Pathways

• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Membrane trafficking (Reactome: R-HSA-199991)

Protein Summary

STX19 is a 299-amino-acid protein with a molecular weight of approximately 33 kDa. It belongs to the syntaxin family, characterized by a C-terminal transmembrane domain and a cytoplasmic SNARE domain that mediates interactions with other SNARE proteins to drive membrane fusion. STX19 is localized to the Golgi and endosomal membranes, suggesting a role in intracellular trafficking. Its expression is enriched in epithelial tissues, particularly the gastrointestinal tract. Structural predictions indicate a typical syntaxin fold with a longin domain. Functional studies are limited, but STX19 may participate in regulated secretion or endosomal sorting.

Related Products

Product name Cat.No. Species Gene ID
STX19 Knockout HEK293 Cell Line EDJ-KQ15557 Human 415117 Details Get a Quote
STX19 Knockout HeLa Cell Line EDJ-KQ60367 Human 415117 Details Get a Quote
STX19 Knockout A-549 Cell Line EDJ-KQ68835 Human 415117 Details Get a Quote
STX19 Knockout HCT 116 Cell Line EDJ-KQ77198 Human 415117 Details Get a Quote
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