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 tuberous sclerosis. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and GTPase activator activity. An important paralog of this gene is RALGAPA1.
UniProtKB/Swiss-Prot for TSC2 Gene
In complex with TSC1, 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. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors.