TSC2

The TSC1-TSC2 complex functions as GTPase activating protein against Rheb - a Ras-like small GTPase, which in turn regulates TOR signaling in nutrient-stimulated cell growth.

Function

 The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.

Pathology

 germline mutations of TSC2 in tuberous sclerosis
 germline mutations of TSC2 in sporadic lymphangiomyomatosis (11829138)

See also

 tuberous sclerosis
 Locus TSC1 (MIM.605284) at 9q34
 Locus TSC3 at 12q14 (MIM.191091)
 Locus TSC4 (MIM.191090)
 FRAP1 (mTOR)

See also

 TSCs: TSC1 and TSC2
 TSC signaling pathway

References

 Findlay GM, Harrington LS, Lamb RF. TSC1-2 tumour suppressor and regulation of mTOR signalling: linking cell growth and proliferation? Curr Opin Genet Dev. 2005 Feb;15(1):69-76. PMID: 15661536

 Inoki K, Corradetti MN, Guan KL. Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet. 2005 Jan;37(1):19-24. PMID: 15624019

 Henske EP. The genetic basis of kidney cancer: why is tuberous sclerosis complex often overlooked? Curr Mol Med. 2004 Dec;4(8):825-31. PMID: 15579029

 Cook JD, Walker CL. The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma. Curr Mol Med. 2004 Dec;4(8):813-24. PMID: 15579028

 Hino O. Multistep renal carcinogenesis in the Eker (Tsc 2 gene mutant) rat model. Curr Mol Med. 2004 Dec;4(8):807-11. PMID: 15579027

 Yeung RS. Lessons from the Eker rat model: from cage to bedside. Curr Mol Med. 2004 Dec;4(8):799-806. PMID: 15579026

 Fingar DC, Blenis J. Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression. Oncogene. 2004 Apr 19;23(18):3151-71. PMID: 15094765

 Pan D, Dong J, Zhang Y, Gao X. Tuberous sclerosis complex: from Drosophila to human disease. Trends Cell Biol. 2004 Feb;14(2):78-85. PMID: 15102439

 Yeung RS. Multiple roles of the tuberous sclerosis complex genes. Genes Chromosomes Cancer. 2003 Dec;38(4):368-75. PMID: 14566857

 Xiao, G.-H.; Shoarinejad, F.; Jin, F.; Golemis, E. A.; Yeung, R. S. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J. Biol. Chem. 272: 6097-6100, 1997. PubMed ID : 9045618