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GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TVP23A
trans-golgi network vesicle protein 23 homolog A
Chromosome 16 · 16p13.13
NCBI Gene: 780776Ensembl: ENSG00000166676.18HGNC: HGNC:20398UniProt: A6NH52
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein secretionvesicle-mediated transportGolgi membranechildhood onset asthmabrain aneurysmbreast carcinomaasthma
✦AI Summary

TVP23A (trans-golgi network vesicle protein 23 homolog A) is a Golgi membrane protein involved in vesicle-mediated transport and protein secretion. As a member of the trans-Golgi network vesicle protein family, TVP23A localizes to the Golgi apparatus where it functions in protein trafficking and secretory pathway regulation. Clinically, TVP23A has emerged as a candidate gene in neurological disease genetics. It was identified among 26 novel candidate genes for late-onset Parkinson's disease through family-based whole exome analysis, with disrupting variants showing significant excess in affected patients compared to controls 1. Notably, the co-inheritance of multiple rare variants in TVP23A and related genes may predict Parkinson's disease occurrence in approximately 20% of patients with high specificity 1. Beyond neurodegeneration, TVP23A expression is dysregulated in chr16 endometritis, a persistent inflammatory condition affecting fertility. Exceptionally, TVP23A was upregulated in the majority of chr16 endometritis cases regardless of inflammatory cell infiltration severity, suggesting it reflects endometrial cell-type-specific pathophysiology rather than inflammatory accumulation alone 2. Additionally, genetic variants near TVP23A show pleiotropic associations with amino acid digestibility traits in pigs, suggesting roles in nutrient metabolism 3. These findings indicate TVP23A functions in trafficking-dependent processes relevant to neurological homeostasis, reproductive tissue inflammation, and metabolic regulation.

Sources cited
1
TVP23A identified as novel candidate gene for late-onset Parkinson's disease with disrupting variants showing significant excess in affected patients
PMID: 34148545
2
TVP23A upregulated in majority of chronic endometritis cases regardless of CD138-positive cell infiltration levels, reflecting endometrial cell-type pathophysiology
PMID: 37547609
3
TVP23A identified as candidate gene associated with amino acid digestibility traits through GWAS in pigs
PMID: 40211847
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
childhood onset asthmaOpen Targets
0.29Weak
brain aneurysmOpen Targets
0.16Weak
breast carcinomaOpen Targets
0.04Suggestive
asthmaOpen Targets
0.02Suggestive
diverticular diseaseOpen Targets
0.02Suggestive
celiac diseaseOpen Targets
0.02Suggestive
pituitary cancerOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
juvenile idiopathic arthritisOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
late-onset Parkinson diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TVP23BShared pathway100%TVP23CShared pathway100%ARL4DShared pathway67%MON1AShared pathway67%ARFGAP3Shared pathway50%LDLRAD1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
83%
Brain
30%
Heart
18%
Liver
18%
Lung
16%
Gene Interaction Network
Click a node to explore
TVP23ATVP23BTVP23CARL4DMON1AARFGAP3LDLRAD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NH52
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.46–0.95]
RankingsWhere TVP23A stands among ~20K protein-coding genes
  • #17,744of 20,598
    Most Researched8
  • #8,956of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedTVP23A
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener · 2021
1.00
2
Gene expression signatures associated with chronic endometritis revealed by RNA sequencing.
PMID: 37547609
Front Med (Lausanne) · 2023
0.67
3
Investigation of the genetic determinism of amino acid digestibility traits in Duroc×Landrace×Yorkshire crossbred pigs.
PMID: 40211847
Anim Biosci · 2025
0.33