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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D30
TBC1 domain family member 30
Chromosome 12 · 12q14.3
NCBI Gene: 23329Ensembl: ENSG00000111490HGNC: HGNC:29164UniProt: F8VZ81
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activitysmall GTPase bindingpositive regulation of GTPase activitynegative regulation of cilium assemblymuscular diseasehair colorcardiomyopathybenign chondrogenic neoplasm
✦AI Summary

TBC1D30 is a Rab GTPase-activating protein that regulates insulin processing and secretion. The protein functions as a negative regulator of proinsulin secretion through its RabGAP domain, which modulates the secretory pathway by controlling Rab GTPase activity 1. Reduced TBC1D30 expression or impaired RabGAP domain function increases proinsulin secretion 1.8-2.6 fold in insulinoma cells, while elevated expression reduces secretion, indicating TBC1D30 suppresses inappropriate insulin cargo trafficking 1. The gene harbors a genome-wide association signal (rs150781447-T, Arg279Cys) linked to elevated plasma proinsulin levels, with the variant allele increasing proinsulin secretion 1. Calcineurin inhibitor tacrolimus suppresses TBC1D30 expression, contributing to impaired glucose-stimulated insulin secretion 2. Beyond endocrine function, TBC1D30 is hypermethylated in Barrett's esophagus and esophageal adenocarcinoma and associates with poor survival in breast and liver cancers when overexpressed 3, 4, 5. TBC1D30 appears involved in multiple secretory pathways through Rab regulation, with dysregulation contributing to metabolic disease and malignancy.

Sources cited
1
TBC1D30 regulates proinsulin and insulin secretion through its RabGAP domain; reduced expression or domain alterations increase proinsulin secretion; harbors GWAS signal for proinsulin levels
PMID: 40064677
2
Tacrolimus reduces TBC1D30 expression as a regulator of exocytosis machinery
PMID: 32894758
3
TBC1D30 is hypermethylated in Barrett's esophagus and esophageal adenocarcinoma
PMID: 39819761
4
TBC1D30 is a Rab-modifying gene; higher expression associates with poor overall survival in breast cancer
PMID: 41071929
5
TBC1D30 is upregulated in hepatocellular carcinoma and functions as a risk gene for poor prognosis
PMID: 40662145
6
TBC1D30 harbors low-frequency variants associated with fasting proinsulin concentrations
PMID: 23263489
Disease Associationsⓘ20
muscular diseaseOpen Targets
0.12Weak
hair colorOpen Targets
0.09Suggestive
cardiomyopathyOpen Targets
0.07Suggestive
benign chondrogenic neoplasmOpen Targets
0.06Suggestive
bronchial diseaseOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Sensorineural hearing impairmentOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
schizophrenia 15Open Targets
0.03Suggestive
Phelan-McDermid syndromeOpen Targets
0.03Suggestive
cornea transplantationOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EVI5LShared pathway100%ODF2LShared pathway50%MPHOSPH9Shared pathway50%ZC3H15Shared pathway33%CEP97Shared pathway33%TBC1D2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Lung
31%
Bone Marrow
27%
Ovary
18%
Liver
15%
Heart
6%
Gene Interaction Network
Click a node to explore
TBC1D30EVI5LODF2LMPHOSPH9ZC3H15CEP97TBC1D2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2I9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.47 [0.34–0.65]
RankingsWhere TBC1D30 stands among ~20K protein-coding genes
  • #13,537of 20,598
    Most Researched23
  • #4,752of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedTBC1D30
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Discovery of Methylated DNA Biomarkers for Potential Nonendoscopic Detection of Barrett's Esophagus and Esophageal Adenocarcinoma.
PMID: 39819761
Am J Gastroenterol · 2025
0.86
3
Identification of susceptibility loci using a novel murine model for triple-negative breast cancer.
PMID: 41071929
G3 (Bethesda) · 2026
0.71
4
Development of a Starvation Response-Based Model and Its Application in Prognostic Assessment of Liver Hepatocellular Carcinoma.
PMID: 40662145
Mediators Inflamm · 2025
0.57
5
TBC1D30 regulates proinsulin and insulin secretion and is the target of a genomic association signal for proinsulin.
PMID: 40064677
Diabetologia · 2025
0.43