TBC1D4 - TBC1 domain family member 4 Gene

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to insulin stimulus	IMP IMP: Inferred from mutant phenotype	22908308	GOA
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	22908308	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBC1D4 Protein Structure

PID

DUF3350

RabGAP-TBC

0
200
400
600
800
1000
1200
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

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	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.