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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D16
TBC1 domain family member 16
Chromosome 17 · 17q25.3
NCBI Gene: 125058Ensembl: ENSG00000167291.17HGNC: HGNC:28356UniProt: Q8TBP0
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cilium assemblyGTPase activator activityprotein bindingregulation of receptor recyclingoral mucosa leukoplakiaresponse to antibioticpoisoningcholelithiasis
✦AI Summary

TBC1D16 is a GTPase-activating protein (GAP) that primarily functions to regulate intracellular trafficking through modulation of Rab GTPases. TBC1D16 enhances the intrinsic GTP hydrolysis rate of Rab4A, thereby controlling receptor recycling from endocytic compartments to the plasma membrane 1. The protein localizes to both cytosol and early endosomes, where it colocalizes with transferrin and EGF receptors 1. Functionally, TBC1D16 reduces transferrin receptor recycling and enhances EGF-stimulated EGFR degradation, leading to decreased EGFR levels and signaling 1. TBC1D16 also acts as a GAP for Rab5C and can inhibit prototype foamy virus replication through promotion of IFN-β production 2. In cancer contexts, TBC1D16 shows complex roles: it is regulated by super enhancers in colorectal cancer 3, exhibits characteristic DNA methylation changes associated with tumor progression 4, and serves as a predictor of chemosensitivity in acute myeloid leukemia 5. Clinically, high TBC1D16 expression correlates with favorable prognosis in epithelial ovarian cancer 6, suggesting tissue-specific roles in cancer progression.

Sources cited
1
TBC1D16 is a Rab4A GTPase activating protein that regulates receptor recycling and EGFR signaling
PMID: 23019362
2
TBC1D16 acts as a GAP for Rab5C and inhibits prototype foamy virus replication
PMID: 34367131
3
TBC1D16 is regulated by oncogenic super enhancers in colorectal cancer
PMID: 34737287
4
TBC1D16 shows characteristic DNA methylation changes associated with tumor progression
PMID: 31383000
5
TBC1D16 predicts chemosensitivity and prognosis in acute myeloid leukemia
PMID: 33476656
6
High TBC1D16 expression correlates with favorable prognosis in epithelial ovarian cancer
PMID: 29962380
Disease Associationsⓘ20
oral mucosa leukoplakiaOpen Targets
0.26Weak
poisoningOpen Targets
0.17Weak
response to antibioticOpen Targets
0.17Weak
cholelithiasisOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.05Suggestive
trigeminal nerve diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
melanomaOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.03Suggestive
Idiopathic hypercalciuriaOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D1Shared pathway100%TBC1D22AShared pathway100%TBC1D19Shared pathway100%TBC1D22BShared pathway100%TBC1D3Shared pathway100%RAB4AProtein interaction89%
Tissue Expression6 tissues
Brain
100%
Heart
61%
Ovary
55%
Lung
47%
Liver
39%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
TBC1D16TBC1D1TBC1D22ATBC1D19TBC1D22BTBC1D3RAB4A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TBP0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.68–1.04]
RankingsWhere TBC1D16 stands among ~20K protein-coding genes
  • #13,536of 20,598
    Most Researched23
  • #10,352of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedTBC1D16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide profiling in colorectal cancer identifies PHF19 and TBC1D16 as oncogenic super enhancers.
PMID: 34737287
Nat Commun · 2021
1.00
2
Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types.
PMID: 31383000
Clin Epigenetics · 2019
0.90
3
TBC1D16 predicts chemosensitivity and prognosis in adult acute myeloid leukemia (AML) patients.
PMID: 33476656
Eur J Pharmacol · 2021
0.80
4
Novel Host Protein TBC1D16, a GTPase Activating Protein of Rab5C, Inhibits Prototype Foamy Virus Replication.
PMID: 34367131
Front Immunol · 2021
0.70
5
Human amyloid β peptide and tau co-expression impairs behavior and causes specific gene expression changes in Caenorhabditis elegans.
PMID: 28982592
Neurobiol Dis · 2018
0.60