背景资料 |
TGFBR2(transforming growth factor, beta receptor II(70/80kDa)), also known as TGF-beta receptor type-2, TGFR-2, TGF-beta type II receptor, Transforming growth factor-beta receptor type II(TGF-beta receptor type II, TbetaR-II), is a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. A TGFBR2 cDNA encoding a deduced 565-amino acid protein with a calculated molecular mass of approximately 60 kD in length. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with?Marfan syndrome,?Loeys-Deitz aortic aneurysm syndrome,?Osler-Weber-Rendu syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. TGFBR2 may be a target of the EWS-FLI1 fusion protein found in Ewing sarcoma and related peripheral primitive neuroectodermal tumors. |
研究类别 |
1. Hagen, G., Muller, S., Beato, M., Suske, G. Cloning by recognition site screening of two novel GT box binding proteins: a family of Sp1 related genes. Nucleic Acids Res. 20: 5519-5525, 1992. 2. Lin, H. Y., Wang, X.-F., Ng-Eaton, E., Weinberg, R. A., Lodish, H. F. Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell 68: 775-785, 1992.3. Hahm, K.-B., Cho, K., Lee, C., Im, Y.-H., Chang, J., Choi, S.-G., Sorensen, P. H. B., Thiele, C. J., Kim, S.-J.Repression of the gene encoding the TGF-beta type II receptor is a major target of the EWS-FLI1 oncoprotein. Nature Genet. 23: 222-227, 1999. |