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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VEZT
vezatin, adherens junctions transmembrane protein
Chromosome 12 · 12q22
NCBI Gene: 55591Ensembl: ENSG00000028203.20HGNC: HGNC:18258UniProt: Q9HBM0
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcell-cell adhesionplasma membranestereocilia ankle link complexneurodegenerative diseaseendometriosisOvarian Endometriosisfemale infertility
✦AI Summary

VEZT (vezatin) is a transmembrane protein of adherens junctions with multiple biological roles. Primary function involves cell-cell adhesion at plasma membranes and organization of the stereocilia ankle link complex 1. Additionally, VEZT regulates retrograde axonal transport as a conserved cargo-specific regulator, particularly for endosomes and dense core vesicles but not mitochondria 2. Mechanistically, VEZT expression is regulated by promoter methylation and microRNA-43c in cancer contexts 3. Loss of VEZT expression through hypermethylation occurs in gastric cancer and correlates with disease progression 45. When restored, VEZT suppresses cell growth and tumorigenicity by regulating downstream targets including GPR56, CDC42, and TCF19 4. Disease relevance spans multiple conditions. In Usher syndrome, VEZT is a candidate gene for inherited hearing loss and retinitis pigmentosa 1. In gastric cancer, reduced VEZT expression associates with increased lymphatic metastasis, deeper invasion, and poor prognosis, suggesting tumor suppressor function 5. In endometriosis, VEZT variants (rs10859871) show strong cis-expression quantitative trait locus effects, with risk alleles associated with increased expression 678. Clinically, VEZT expression levels serve as an independent prognostic biomarker in gastric cancer, with strong expression predicting longer survival 5.

Sources cited
1
VEZT is a candidate gene for Usher syndrome, associated with sensorineural hearing loss and retinitis pigmentosa
PMID: 25404053
2
VEZT functions as a conserved regulator of retrograde axonal transport for endosomes and dense core vesicles
PMID: 32788307
3
VEZT expression is down-regulated in gastric cancer through promoter methylation and miR-43c targeting
PMID: 21156161
4
VEZT is a putative tumor suppressor that suppresses gastric cancer growth and tumorigenicity through regulation of GPR56, CDC42, and TCF19
PMID: 24069310
5
VEZT is an independent prognostic factor in gastric cancer; strong expression associates with longer overall survival and inversely correlates with lymphatic metastasis
PMID: 25792470
6
VEZT rs10859871 SNP shows strong cis-expression quantitative trait locus effects in endometriosis, with risk allele associated with increased VEZT expression
PMID: 27005890
7
VEZT rs10859871 variant is one of eleven genes/SNPs consistently associated with endometriosis risk across multiple genome-wide association studies
PMID: 33113402
8
VEZT is a susceptibility locus identified in genome-wide association studies relevant to endometriosis and adenomyosis pathogenesis
PMID: 41462999
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
endometriosisOpen Targets
0.49Moderate
Ovarian EndometriosisOpen Targets
0.31Weak
female infertilityOpen Targets
0.31Weak
clavicle fractureOpen Targets
0.30Weak
shoulder fractureOpen Targets
0.30Weak
HypercholesterolemiaOpen Targets
0.29Weak
endometriosis of pelvic peritoneumOpen Targets
0.28Weak
coronary artery diseaseOpen Targets
0.14Weak
gastric cancerOpen Targets
0.09Suggestive
heart diseaseOpen Targets
0.09Suggestive
epilepsyOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
coronary atherosclerosisOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Imerslund-Grasbeck syndrome type 2Open Targets
0.03Suggestive
angina pectorisOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
sialolithiasisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPPShared pathway100%IGDCC3Shared pathway100%TRIM29Shared pathway100%FBLIM1Shared pathway100%VSIG10L2Shared pathway100%IGSF5Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
59%
Lung
55%
Brain
49%
Liver
44%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
VEZTLPPIGDCC3TRIM29FBLIM1VSIG10L2IGSF5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HBM0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.40–0.68]
RankingsWhere VEZT stands among ~20K protein-coding genes
  • #8,153of 20,598
    Most Researched56
  • #5,022of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedVEZT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
PMID: 25404053
Orphanet J Rare Dis · 2014
1.00
2
Down-regulation of VEZT gene expression in human gastric cancer involves promoter methylation and miR-43c.
PMID: 21156161
Biochem Biophys Res Commun · 2011
0.90
3
A Conserved Role for Vezatin Proteins in Cargo-Specific Regulation of Retrograde Axonal Transport.
PMID: 32788307
Genetics · 2020
0.80
4
Endometrial vezatin and its association with endometriosis risk.
PMID: 27005890
Hum Reprod · 2016
0.70
5
VEZT as a novel independent prognostic factor in gastric cancer.
PMID: 25792470
Cancer Biomark · 2015
0.60