Aliases for TSC2 Gene
External Ids for TSC2 Gene
Previous HGNC Symbols for TSC2 Gene
Previous GeneCards Identifiers for TSC2 Gene
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]
GeneCards Summary for TSC2 Gene
TSC2 (Tuberous Sclerosis 2) is a Protein Coding gene. Diseases associated with TSC2 include Lymphangioleiomyomatosis and Tsc2 Angiomyolipomas, Renal, Modifier Of. Among its related pathways are Development IGF-1 receptor signaling and Constitutive Signaling by AKT1 E17K in Cancer. GO annotations related to this gene include protein homodimerization activity and binding. An important paralog of this gene is RALGAPA1.
UniProtKB/Swiss-Prot for TSC2 Gene
In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5.