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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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STX5
syntaxin 5
Chromosome 11 · 11q12.3
NCBI Gene: 6811Ensembl: ENSG00000162236.14HGNC: HGNC:11440UniProt: B4DKR0
117PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of protein catabolic processSNAP receptor activityGolgi disassemblyregulation of Golgi organizationretinitis pigmentosahepatocellular carcinomaage-related macular degenerationFamilial exudative vitreoretinopathy
✦AI Summary

STX5 (syntaxin 5) is a SNARE protein essential for anterograde and retrograde endoplasmic reticulum (ER)-Golgi trafficking in mammalian cells 1. As a key component of the ER-to-Golgi SNARE complex, STX5 mediates vesicle docking and fusion through interactions with cognate SNAREs, regulatory proteins like SCFD1, and membrane tethering complexes 2. STX5 exists as two isoforms generated from alternative translation start sites, with the short isoform specifically required for intra-Golgi transport 2. Beyond canonical vesicle trafficking, STX5 possesses RNA-binding capacity and regulates miRNA export from activated macrophages, facilitating inflammatory cytokine expression and pathogen clearance 3. STX5 determines Golgi architecture and regulates von Willebrand factor secretion through control of Weibel-Palade body morphology 4. Clinically, STX5 mutations cause congenital disorder of glycosylation 2AA, manifesting as severe multisystem disease including liver dysfunction and skeletal abnormalities 2. Loss of the short isoform alone results in defective glycosylation and compromised ER-Golgi trafficking 2. STX5 function is negatively regulated by the lactate and hypoxia sensor NDRG3, which inhibits ER-to-Golgi trafficking under stress conditions 5. Additionally, elevated anti-STX5 autoantibodies serve as a potential serum biomarker for endometriosis diagnosis 6.

Sources cited
1
STX5 mediates anterograde and retrograde ER-Golgi trafficking as a conserved SNARE protein
PMID: 31357511
2
STX5 mutations cause congenital disorder of glycosylation; the short isoform is essential for intra-Golgi transport
PMID: 34711829
3
STX5 binds miRNAs and regulates their export from activated macrophages to control inflammatory responses
PMID: 38492777
4
STX5 controls Golgi architecture and determines Weibel-Palade body size and von Willebrand factor secretion
PMID: 35081689
5
NDRG3 negatively regulates ER-to-Golgi transport by binding the long isoform of STX5 under hypoxic and high lactate conditions
PMID: 41252154
6
Anti-STX5 autoantibodies are elevated in endometriotic patients and serve as a diagnostic marker for endometriosis
PMID: 21715015
Disease Associationsⓘ21
retinitis pigmentosaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Cone rod dystrophyOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.05Suggestive
Sorsby's fundus dystrophyOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
coloboma of optic nerveOpen Targets
0.05Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.05Suggestive
Leber hereditary optic neuropathyOpen Targets
0.05Suggestive
Leber congenital amaurosis 13Open Targets
0.05Suggestive
macular dystrophy with or without cone dysfunctionOpen Targets
0.05Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.05Suggestive
Leber congenital amaurosis 19Open Targets
0.05Suggestive
retinitis pigmentosa 71Open Targets
0.05Suggestive
Familial drusenOpen Targets
0.05Suggestive
cone-rod dystrophy 22Open Targets
0.05Suggestive
Congenital disorder of glycosylation 2AAUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARCN1Protein interaction100%COPB1Protein interaction100%LMAN1Protein interaction100%MAN2A1Protein interaction100%SNAP23Protein interaction100%SEC24BProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
91%
Lung
83%
Bone Marrow
81%
Brain
60%
Heart
49%
Gene Interaction Network
Click a node to explore
STX5ARCN1COPB1LMAN1MAN2A1SNAP23SEC24B
PROTEIN STRUCTURE
Preparing viewer…
PDB3EFO · 2.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.87Intermediate
Observed/Expected LoF0.36 [0.24–0.55]
RankingsWhere STX5 stands among ~20K protein-coding genes
  • #4,065of 20,598
    Most Researched117 · top quartile
  • #3,519of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedSTX5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stx5-Mediated ER-Golgi Transport in Mammals and Yeast.
PMID: 31357511
Cells · 2019
1.00
2
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
PMID: 34711829
Nat Commun · 2021
0.90
3
Proteomic profiles of peritoneal fluid-derived small extracellular vesicles correlate with patient outcome in ovarian cancer.
PMID: 38564289
J Clin Invest · 2024
0.80
4
Human antigen R transfers miRNA to Syntaxin 5 to synergize miRNA export from activated macrophages.
PMID: 38492777
J Biol Chem · 2024
0.70
5
Identification of anti-syntaxin 5 autoantibody as a novel serum marker of endometriosis.
PMID: 21715015
J Reprod Immunol · 2011
0.60