Medical Knowledge Cockpit lymphangioleiomyomatosis, somatic

TSC2

Somatic tumors

pulmonary lymphangioleiomyomatosis (LAM), renal angiomyolipoma, HNSCC

Tumor types germline

hamartoma, renal cell carcinoma, tuberous sclerosis tuber

Cancer Syndrom

Tuberous sclerosis 2

Translocation partner

Name

tuberous sclerosis 2 gene

Chromosome banding

16p13.3

Cancer molecular gen.

Rec

Mutation type

D, Mis, N, F, S

Other syndrome disease

TSC2

• Rheb binds and regulates the mTOR kinase
• Activation of protein synthesis in cardiomyocytes by the hypertrophic agent phenylephrine requires the activation of ERK and involves phosphorylation of tuberous sclerosis complex 2 (TSC2)
• Human papillomavirus 16 E6 oncoprotein interferences with insulin signaling pathway by binding to tuberin