TSC2 (Tuberin, Tuberous sclerosis complex, TSC Complex Subunit 2), is implicated as a tumor suppressor and may function in vesicular transport, play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. TSC2 associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Phosphorylation of tuberin on Ser 939 and Thr 1462 regulates its interaction with hamartin, and is stimulated by various growth factors through the phosphoinositide 3-kinase/Akt pathway. TSC2 may have a function in vesicular transport, but may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking. TSC2 specifically stimulates the intrinsic GTPase activity of the Ras related protein RAP1A and RAB5, suggesting a possible mechanism for its role in regulating cellular growth. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors and are involved in diseases such as lymphangioleiomyomatosis and TSC2 angiomyolipoma. Alternative splicing results in transcript variants of three different isoforms of TSC2.
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Protein Aliases: AH2; Annealing helicase 2; DNA annealing helicase and endonuclease ZRANB3; DNA annealing helicase ZRANB3; Endonuclease ZRANB3; Zinc finger Ran-binding domain-containing protein 3; zinc finger, RAN-binding domain containing 3; ZRANB3
Gene Aliases: 4933425L19Rik; AH2; ZRANB3
UniProt ID: (Human) Q5FWF4
Entrez Gene ID: (Human) 84083