DISEASES

Disease-gene associations mined from literature

Literature associating TSC2 and kidney angiomyolipoma

TSC2 [ENSP00000219476]

Tuberous sclerosis 2 protein; 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; Armadillo-like helical domain containing

Synonyms:  TSC2,  TSC2p,  hTSC2,  DKFZP686N1252,  H3BMQ0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM