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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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STXBP5
syntaxin binding protein 5
Chromosome 6 · 6q24.3
NCBI Gene: 134957Ensembl: ENSG00000164506.16HGNC: HGNC:19665UniProt: A0A9L9PXY2
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolsyntaxin-1 bindingsyntaxin bindingmyosin II bindingvenous thromboembolismdeep vein thrombosisThromboembolismhypertension
✦AI Summary

STXBP5 (syntaxin binding protein 5) is a SNARE regulatory protein that plays dual, tissue-specific roles in exocytosis. In endothelial cells, STXBP5 inhibits exocytosis by interacting with syntaxin-4 and suppressing von Willebrand factor (vWF) and P-selectin release 1. Conversely, in platelets, STXBP5 promotes secretion by interacting with core machinery complexes including syntaxin-11/SNAP23 heterodimers and the cytoskeleton, facilitating granule cargo packaging and multi-granule type secretion 2. This functional antagonism explains why STXBP5-deficient mice show elevated plasma vWF but impaired platelet hemostasis 1. Genetic variations in STXBP5 associate with multiple cardiovascular phenotypes: SNPs correlate with circulating tPA levels and vWF level variation in type 1 von Willebrand disease 34, while a functional SNP (rs1039084) linked to decreased thrombosis recapitulates human phenotypes in engineered mice 5. Beyond hemostasis, STXBP5-AS1 (an antisense lncRNA regulating STXBP5 expression) associates with adult and childhood ADHD symptoms 6, and both STXBP5 and STXBP5-AS1 function as tumor suppressors in glioma, with epigenetic silencing correlating with tumorigenesis 7.

Sources cited
1
STXBP5 inhibits endothelial exocytosis of vWF and P-selectin by interacting with syntaxin-4, but promotes platelet secretion
PMID: 25244095
2
STXBP5 interacts with platelet secretion machinery complexes and is required for granule cargo packaging and multi-granule type secretion
PMID: 25244094
3
STXBP5 SNP rs9399599 associates with circulating tPA levels; silencing STXBP5 decreases tPA release from vascular endothelial cells
PMID: 24578379
4
STXBP5 genetic variations associate with vWF:Ag level variation in type 1 von Willebrand disease patients
PMID: 25832887
5
Human STXBP5 SNP rs1039084 (p.N436S) is a causal variant for decreased thrombotic phenotype with lower plasma vWF and decreased platelet secretion
PMID: 28062498
6
STXBP5-AS1 lncRNA associates with ADHD symptoms in adults and children; enhances STXBP5 reporter expression and correlates with motor impulsivity
PMID: 30659475
7
STXBP5 and STXBP5-AS1 are downregulated in glioma through promoter hypermethylation and function as tumor suppressors suppressing cell proliferation and promoting apoptosis
PMID: 33965377
Disease Associationsⓘ20
venous thromboembolismOpen Targets
0.37Weak
deep vein thrombosisOpen Targets
0.36Weak
ThromboembolismOpen Targets
0.36Weak
hypertensionOpen Targets
0.35Weak
coronary artery diseaseOpen Targets
0.35Weak
Ischemic strokeOpen Targets
0.34Weak
urethral syndromeOpen Targets
0.33Weak
urethritisOpen Targets
0.33Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
premature birthOpen Targets
0.29Weak
diverticular diseaseOpen Targets
0.24Weak
femur fractureOpen Targets
0.19Weak
peripheral vascular diseaseOpen Targets
0.19Weak
HypercholesterolemiaOpen Targets
0.19Weak
obesityOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.05Suggestive
major depressive disorderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SYBUProtein interaction100%VAMP7Protein interaction100%STXBP6Protein interaction95%STXBP1Protein interaction92%SYN1Protein interaction92%UNC13BProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
90%
Lung
29%
Heart
28%
Ovary
23%
Liver
13%
Gene Interaction Network
Click a node to explore
STXBP5SYBUVAMP7STXBP6STXBP1SYN1UNC13B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5T5C0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.19–0.34]
RankingsWhere STXBP5 stands among ~20K protein-coding genes
  • #7,921of 20,598
    Most Researched58
  • #1,498of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedSTXBP5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms.
PMID: 30659475
Behav Genet · 2019
1.00
2
CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.
PMID: 25832887
J Thromb Haemost · 2015
0.90
3
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
PMID: 24578379
Arterioscler Thromb Vasc Biol · 2014
0.80
4
Aberrant hypermethylation induced downregulation of antisense lncRNA STXBP5-AS1 and its sense gene STXBP5 correlate with tumorigenesis of glioma.
PMID: 33965377
Life Sci · 2021
0.70
5
Syntaxin-binding protein STXBP5 inhibits endothelial exocytosis and promotes platelet secretion.
PMID: 25244095
J Clin Invest · 2014
0.60