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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D4
TBC1 domain family member 4
Chromosome 13 · 13q22.2
NCBI Gene: 9882Ensembl: ENSG00000136111.15HGNC: HGNC:19165UniProt: O60343
118PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolvesicle-mediated transportcellular response to insulin stimulustype 2 diabetes mellitusInsulin resistanceliver diseasedislocation
✦AI Summary

TBC1D4 is a Rab GTPase-activating protein (GAP) that serves dual roles in glucose homeostasis and autophagy regulation. Its primary function involves insulin-stimulated glucose transporter GLUT4 translocation to the plasma membrane, increasing glucose uptake in skeletal muscle and adipose tissue 1. TBC1D4 acts as a GAP for Rab GTPases including RAB2A, RAB8A, RAB10, and RAB14 2, with Akt2-dependent phosphorylation at T642 being a key mechanism for insulin-stimulated glucose uptake 1. Beyond glucose transport, TBC1D4 functions as a molecular brake on autophagic and endocytic pathways by antagonizing RAB2A-mediated processes, suppressing both early autophagy initiation via ULK1 complex and late-stage autophagosome-lysosome fusion 2. Notably, TBC1D4-S711 phosphorylation by AMPK mediates post-exercise insulin sensitization in skeletal muscle 3. Mutations in TBC1D4 cause severe genetic insulin resistance syndrome and confer approximately tenfold increased type 2 diabetes risk in some populations 45. Loss of muscle-specific TBC1D4 isoforms results in severe skeletal muscle insulin resistance with markedly reduced GLUT4 expression, though exercise capacity remains intact 5. Epigenetic alterations affecting TBC1D4 expression in pancreatic islets associate with impaired insulin secretion and type 2 diabetes risk 6.

Sources cited
1
TBC1D4 (AS160) is a Rab GTPase-activating protein with Akt2-dependent phosphorylation at T642 essential for insulin-stimulated glucose uptake in skeletal muscle
PMID: 25280670
2
TBC1D4 acts as a GAP for RAB2A and suppresses both early and late stages of autophagy and endocytic pathways through multiple protein-protein interactions
PMID: 38964379
3
TBC1D4-S711 phosphorylation by AMPK is a major convergence point mediating post-exercise insulin sensitization in skeletal muscle
PMID: 37074686
4
TBC1D4 abnormalities cause genetic insulin resistance syndrome associated with type 2 diabetes
PMID: 35110500
5
Loss of muscle-specific TBC1D4 isoform (p.Arg684Ter variant) causes severe skeletal muscle insulin resistance with reduced GLUT4 expression and approximately tenfold increased type 2 diabetes risk in Greenlandic Inuit populations
PMID: 39482542
6
Epigenetic alterations reducing TBC1D4 expression in pancreatic islets associate with impaired insulin secretion and type 2 diabetes
PMID: 38086799
Disease Associationsⓘ21
type 2 diabetes mellitusOpen Targets
0.34Weak
Insulin resistanceOpen Targets
0.34Weak
liver diseaseOpen Targets
0.29Weak
dislocationOpen Targets
0.28Weak
inherited retinal dystrophyOpen Targets
0.27Weak
pyogenic granulomaOpen Targets
0.26Weak
joint diseaseOpen Targets
0.25Weak
type 1 diabetes mellitusOpen Targets
0.25Weak
injuryOpen Targets
0.24Weak
osteitis deformansOpen Targets
0.24Weak
vascular diseaseOpen Targets
0.23Weak
corneal neovascularizationOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
Phenotypic abnormalityOpen Targets
0.15Weak
gestational diabetesOpen Targets
0.15Weak
kidney failureOpen Targets
0.15Weak
macular degenerationOpen Targets
0.12Weak
placenta praeviaOpen Targets
0.11Weak
systemic lupus erythematosusOpen Targets
0.10Weak
ankylosing spondylitisOpen Targets
0.10Weak
Type 2 diabetes mellitus 5UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKT1Protein interaction100%AKT3Protein interaction99%LNPEPProtein interaction98%SLC2A4Protein interaction98%YWHABProtein interaction97%RASA1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Ovary
78%
Lung
20%
Liver
18%
Brain
14%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
TBC1D4AKT1AKT3LNPEPSLC2A4YWHABRASA1
PROTEIN STRUCTURE
Preparing viewer…
PDB7NIX · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.71–0.97]
RankingsWhere TBC1D4 stands among ~20K protein-coding genes
  • #4,018of 20,598
    Most Researched118 · top quartile
  • #9,246of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTBC1D4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New classification and diagnostic criteria for insulin resistance syndrome.
PMID: 35110500
Endocr J · 2022
1.00
2
Roles of TBC1D1 and TBC1D4 in insulin- and exercise-stimulated glucose transport of skeletal muscle.
PMID: 25280670
Diabetologia · 2015
0.90
3
TBC1D4 antagonizes RAB2A-mediated autophagic and endocytic pathways.
PMID: 38964379
Autophagy · 2024
0.80
4
PMID: 34092182
Autophagy · 2022
0.70
5
Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots?
PMID: 34208471
Cells · 2021
0.60