Tuberin / TSC2 (TSC2) Antibody – Mouse Monoclonal

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

TSC2: a product of the tumor suppressor gene TSC2. Tuberin and Hamartin (TSC1) form a tumor suppressor heterodimer that inhibits the mTOR nutrient signaling input. TSC1/TSC2 targets the small G protein Rheb, a novel mediator of the nutrient signaling input to mTOR. Functions as a Rheb GTPase activating protein (GAP). Four alternatively spliced isoforms have been described.

Protein type: Cell cycle regulation; Tumor suppressor; GAPs; GAPs, misc.; Nuclear receptor co-regulator

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: cytoplasm; cytosol; Golgi apparatus; lysosome; membrane; nucleus; perinuclear region of cytoplasm; TSC1-TSC2 complex

Molecular Function: GTPase activator activity; phosphatase binding; protein binding; protein homodimerization activity; small GTPase binding

Biological Process: cell cycle arrest; endocytosis; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; gene expression; glucose import; heart development; innate immune response; insulin receptor signaling pathway; insulin-like growth factor receptor signaling pathway; negative regulation of cell proliferation; negative regulation of insulin receptor signaling pathway; negative regulation of phosphoinositide 3-kinase cascade; negative regulation of protein kinase activity; negative regulation of protein kinase B signaling cascade; negative regulation of TOR signaling pathway; negative regulation of Wnt receptor signaling pathway; nerve growth factor receptor signaling pathway; neural tube closure; phosphoinositide 3-kinase cascade; phosphoinositide-mediated signaling; positive chemotaxis; positive regulation of GTPase activity; positive regulation of transcription from RNA polymerase II promoter; protein import into nucleus; protein kinase B signaling cascade; protein localization; regulation of cell cycle; regulation of endocytosis; regulation of insulin receptor signaling pathway; regulation of small GTPase mediated signal transduction; response to hypoxia; transcription initiation from RNA polymerase II promoter; vesicle-mediated transport; viral reproduction

Disease: Lymphangioleiomyomatosis; Tuberous Sclerosis 2