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Cancer tissues showed weak to moderate cytoplasmic positivity. A few cases of colorectal and gastric cancers along with occasional melanomas, prostate and ovarian cancers showed strong staining. Several lymphomas and testicular cancers were negative.
Several colorectal, prostate cancers, melanomas along with few breast and cervical cancers showed weak to moderate cytoplasmic positivity. Other cancer tissues were in general negative.
GENE INFORMATION
Gene name
TBC1D4 (HGNC Symbol)
Synonyms
AS160, DKFZp779C0666, KIAA0603
Description
TBC1 domain family, member 4 (HGNC Symbol)
Entrez gene 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]
O60343 [Direct mapping] TBC1 domain family member 4
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MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
