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.
View complete mutation data:
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 Services
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 |