Phospho-Tsc2(s1096) Blocking Peptide

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

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; heart development; 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; neural tube closure; positive chemotaxis; protein import into nucleus; protein kinase B signaling cascade; protein localization; regulation of cell cycle; regulation of endocytosis; regulation of insulin receptor signaling pathway; vesicle-mediated transport

Disease: Lymphangioleiomyomatosis; Tuberous Sclerosis 2