DISEASES

Disease-gene associations mined from literature

Literature associating TSC2 and kidney benign neoplasm

TSC2 [ENSP00000219476]

Tuberin; 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 (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity). ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:15340059,

Synonyms:  TSC2,  TSC2p,  hTSC2,  A0A2R8Y5B2,  A0A2R8Y5F1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM