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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBC1D19
TBC1 domain family member 19
Chromosome 4 Β· 4p15.2
NCBI Gene: 55296Ensembl: ENSG00000109680.12HGNC: HGNC:25624UniProt: Q8N5T2
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cilium assemblyprotein bindinghypertensioncardiovascular diseasebacterial diseasebone remodeling disease
✦AI Summary

Based on limited published evidence, TBC1D19 is predicted to function as a GTPase-activating protein for Rab family proteins and plays a role in protein binding and cilium assembly regulation. TBC1D19 functions in cell polarity; reduced expression disrupts odontoblast polarization and contributes to apoptosis 1. TBC1D19 is identified as a core gene involved in regulating early brain development, with involvement in prenatal dorsolateral prefrontal cortex, inferior parietal cortex, and ventrolateral prefrontal cortex development 2.

Sources cited
1
TBC1D19 functions in cell polarity; decreased TBC1D19 expression disrupts odontoblast polarization and contributes to odontoblast apoptosis
PMID: 20510228
2
TBC1D19 is a core gene involved in regulating early prenatal brain development in dorsolateral prefrontal cortex, inferior parietal cortex, and ventrolateral prefrontal cortex
PMID: 31676466
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
hypertensionOpen Targets
0.38Weak
cardiovascular diseaseOpen Targets
0.31Weak
bacterial diseaseOpen Targets
0.27Weak
bone remodeling diseaseOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
essential hypertensionOpen Targets
0.04Suggestive
ankylosing spondylitisOpen Targets
0.04Suggestive
Increased blood pressureOpen Targets
0.03Suggestive
poisoningOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
jaw diseaseOpen Targets
0.03Suggestive
secondary malignant neoplasmOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
complex regional pain syndromeOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
cystic fibrosisOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TBC1D1Shared pathway100%TBC1D22AShared pathway100%TBC1D3Shared pathway100%TBC1D16Shared pathway100%TBC1D22BShared pathway100%TTLL1Protein interaction84%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Ovary
87%
Lung
39%
Bone Marrow
31%
Liver
22%
Gene Interaction Network
Click a node to explore
TBC1D19TBC1D1TBC1D22ATBC1D3TBC1D16TBC1D22BTTLL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8N5T2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.43Tolerant
Observed/Expected LoF0.39 [0.24–0.67]
RankingsWhere TBC1D19 stands among ~20K protein-coding genes
  • #14,032of 20,598
    Most Researched21
  • #4,906of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedTBC1D19
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Mutant DLX 3 disrupts odontoblast polarization and dentin formation.
PMID: 20510228
Dev Biol Β· 2010
1.00
2
The role of genes affected by human evolution marker GNA13 in schizophrenia.
PMID: 31676466
Prog Neuropsychopharmacol Biol Psychiatry Β· 2020
0.50