2. Gene
  3. TBC1D4 - TBC1 domain family member 4 Gene

TBC1D4 - TBC1 domain family member 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AS160; NIDDM5

Gene ID: 9882 | Gene type: protein coding

About TBC1D4

Cytogenetic location: 13q22.2 Genomic coordinates (GRCh38): 13:75,283,503-75,482,169 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 45 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 15.3) and 23 other tissues.

Summary

This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple Akt phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to Insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by Akt is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and Insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

TBC1D4 Products(3)

mRNA Protein Name
NM_001286658.2 NP_001273587.1 TBC1 domain family member 4 isoform 2
NM_001286659.2 NP_001273588.1 TBC1 domain family member 4 isoform 3
NM_014832.5 NP_055647.2 TBC1 domain family member 4 isoform 1

TBC1D4 Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (117 - 184)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (344 - 440)

DUF3350

DUF3350: Domain of unknown function (DUF3350) (801 - 864)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (924 - 1131)

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  • 1298 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 4

TBC (Tre-2, BUB2, CDC16) domain-containing protein

Related Diseases

Diseases Alias
Type 2 Diabetes 5

Diabetes Mellitus, Noninsulin-Dependent, 5

NIDDM5

T2D5

Diabetes Mellitus, Non-Insulin-Dependent, 5

Type 2 Diabetes Mellitus 5, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, Type 5
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes
Acanthosis Nigricans

Keratosis Nigricans

An
Hyperinsulinism

Hyperinsulinemia
Donohue Syndrome

Leprechaunism

Leprechaunism Syndrome

Donohue'S Syndrome

LEPRCH
Diabetes Mellitus

Diabetes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14244 TBC1D4 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TBC1D4 RGD RGD:1561609
Macaca mulatta TBC1D4 VGNC VGNC:78166
Canis familiaris TBC1D4 VGNC VGNC:47149
Felis catus TBC1D4 VGNC VGNC:65988
Mus musculus TBC1D4 MGD MGI:2429660
Bos taurus TBC1D4 VGNC VGNC:35644