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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TVP23B
trans-golgi network vesicle protein 23 homolog B
Chromosome 17 · 17p11.2
NCBI Gene: 51030Ensembl: ENSG00000171928.14HGNC: HGNC:20399UniProt: J3QL63
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGolgi apparatusprotein secretionvesicle-mediated transportgoutinflammatory bowel diseaseAutosomal recessive early-onset inflammatory bowel diseaseinflammatory bowel disease 30
✦AI Summary

TVP23B (trans-Golgi network vesicle protein 23 homolog B) is a conserved transmembrane protein of the trans-Golgi apparatus involved in protein trafficking and secretion. At the cellular level, TVP23B regulates Golgi protein composition and function through interaction with YIPF6, another Golgi-resident protein 1. TVP23B is essential for maintaining proper glycosylation enzyme localization within the Golgi, as demonstrated by common deficiencies in glycosylation enzymes in TVP23B-deficient colonocytes 1. Functionally, TVP23B controls intestinal barrier integrity by regulating Paneth cell homeostasis and goblet cell function, thereby maintaining antimicrobial peptide production and mucus layer formation 1. Dysregulation of TVP23B has disease relevance across multiple conditions. In intestinal immunity, TVP23B mutation increases susceptibility to both chemically induced and infectious colitis by compromising the sterile mucin layer and host-microbe balance 1. Genetically, TVP23B variants are associated with spina bifida susceptibility as identified through exome-wide association studies 2, and the gene was identified as a convergent schizophrenia risk locus through cross-tissue transcriptome-wide association 3. Clinically, macrophage-specific silencing of Tvp23b in mice with myocardial infarction significantly improved cardiac function and suppressed pathological fibrosis 4, highlighting therapeutic potential in ischemic cardiomyopathy through modulation of macrophage-fibroblast interactions.

Sources cited
1
TVP23B is a trans-Golgi transmembrane protein that controls Paneth cell homeostasis and goblet cell function, regulates intestinal barrier integrity through glycosylation enzyme localization, and is necessary for sterile mucin layer formation
PMID: 37339972
2
TVP23B variants are associated with spina bifida risk as identified through gene-based burden testing in exome-wide association study
PMID: 41013918
3
TVP23B is identified as a convergent schizophrenia susceptibility gene through cross-tissue transcriptome-wide association analysis
PMID: 41616909
4
Macrophage-specific silencing of Tvp23b in mice with myocardial infarction significantly improved cardiac function and suppressed fibrosis
PMID: 40894159
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
goutOpen Targets
0.14Weak
inflammatory bowel diseaseOpen Targets
0.07Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.06Suggestive
inflammatory bowel disease 30Open Targets
0.06Suggestive
inflammatory bowel disease 29Open Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
inflammatory bowel disease 1Open Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
Hirschsprung diseaseOpen Targets
0.06Suggestive
congenital diarrhea 5 with tufting enteropathyOpen Targets
0.06Suggestive
Intestinal epithelial dysplasiaOpen Targets
0.06Suggestive
inflammatory bowel disease 13Open Targets
0.06Suggestive
inflammatory bowel disease 19Open Targets
0.06Suggestive
lactose intolerance adult typeOpen Targets
0.05Suggestive
DiarrheaOpen Targets
0.05Suggestive
inflammatory bowel disease 25Open Targets
0.05Suggestive
Diarrhea, InfantileOpen Targets
0.05Suggestive
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cellsOpen Targets
0.05Suggestive
congenital sodium diarrheaOpen Targets
0.05Suggestive
congenital sucrase-isomaltase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TVP23AShared pathway100%TVP23CShared pathway100%CDRT15Protein interaction71%ARL4DShared pathway67%MON1AShared pathway67%ARFGAP3Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Brain
73%
Ovary
67%
Lung
59%
Heart
58%
Gene Interaction Network
Click a node to explore
TVP23BTVP23ATVP23CCDRT15ARL4DMON1AARFGAP3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NYZ1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.91Intolerant
Observed/Expected LoF0.30 [0.17–0.57]
RankingsWhere TVP23B stands among ~20K protein-coding genes
  • #15,430of 20,598
    Most Researched16
  • #3,720of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedTVP23B
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Interpretable machine learning coupled to spatial transcriptomics unveils mechanisms of macrophage-driven fibroblast activation in ischemic cardiomyopathy.
PMID: 40894159
medRxiv · 2025
1.00
2
Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.
PMID: 41013918
Birth Defects Res · 2025
0.88
3
Role of FAM18B in diabetic retinopathy.
PMID: 25221423
Mol Vis · 2014
0.75
4
Transcriptomic integration nominates FOXN2 as a candidate schizophrenia risk gene.
PMID: 41616909
Behav Brain Res · 2026
0.63
5
Trans-Golgi protein TVP23B regulates host-microbe interactions via Paneth cell homeostasis and Goblet cell glycosylation.
PMID: 37339972
Nat Commun · 2023
0.50