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Gene Review

TGFBR2  -  transforming growth factor, beta receptor...

Homo sapiens

Synonyms: AAT3, FAA3, LDS1B, LDS2, LDS2B, ...
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Disease relevance of TGFBR2

  • Heterozygous TGFBR2 mutations in Marfan syndrome [1].
  • The type II transforming growth factor (TGF)-beta receptor gene (TGFBR2) is often mutated in nucleotide repeat sequences in colorectal cancers that are replication error positive (RER+) [2].
  • We have therefore systematically examined unmatched sets of 17 primary and 17 recurrent breast tumor samples for mutations in TGFBR2, restricted to those regions of the gene in which mutations have previously been reported [3].
  • Approximately 30% of colon cancers carry TGFBR2 mutations, demonstrating that it is a common target for mutational inactivation in this cancer [4].
  • Thus, loss of TGFBR2 in intestinal epithelial cells promotes the invasion and malignant transformation of tumors initiated by Apc mutation, providing evidence that Wnt signaling deregulation and TGF-beta signaling inactivation cooperate to drive the initiation and progression, respectively, of intestinal cancers in vivo [4].

Psychiatry related information on TGFBR2


High impact information on TGFBR2


Chemical compound and disease context of TGFBR2


Biological context of TGFBR2

  • In MMR-deficient strains, the vector containing the (A)(10) microsatellite sequence of TGFBR2 had a mutation rate (mutations/cell division) of 1.4 x 10(-4), compared to a mutation rate of 1.7 x 10(-6) in the wild-type strain [13].
  • ACVR2 is a member of the transforming growth factor (TGF)-beta type II receptor (TGFBR2) family and controls cell growth and differentiation [14].
  • A number of point mutations in the highly conserved serine/threonine kinase domain of TGFBR2 have also been reported, some of which have been correlated with either loss of trans-phosphorylation of TGF-beta type 1 receptor or constitutive activation of trans-phosphorylation [3].
  • Approximately 15% of human colon cancers have microsatellite instability (MSI) and carry frameshift mutations in a polyadenine tract (BAT-RII) in the type II transforming growth factor beta (TGF-beta) receptor (TGFBR2), a required component of the TGF-beta receptor [15].
  • TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with negative fibrillin-1 (FBN1) gene screening [16].

Anatomical context of TGFBR2


Associations of TGFBR2 with chemical compounds


Physical interactions of TGFBR2


Enzymatic interactions of TGFBR2

  • Both wild-type TGF-beta RI and a kinase-deficient mutant thereof are transphosphorylated by the coexpressed TGF-beta RII kinase in a ligand-independent fashion in these cells [26].

Regulatory relationships of TGFBR2


Other interactions of TGFBR2


Analytical, diagnostic and therapeutic context of TGFBR2


  1. Heterozygous TGFBR2 mutations in Marfan syndrome. Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, M., Harada, N., Morisaki, T., Allard, D., Varret, M., Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., Boileau, C., Matsumoto, N. Nat. Genet. (2004) [Pubmed]
  2. Transforming growth factor beta stimulation of colorectal cancer cell lines: type II receptor bypass and changes in adhesion molecule expression. Ilyas, M., Efstathiou, J.A., Straub, J., Kim, H.C., Bodmer, W.F. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  3. Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. Lücke, C.D., Philpott, A., Metcalfe, J.C., Thompson, A.M., Hughes-Davies, L., Kemp, P.R., Hesketh, R. Cancer Res. (2001) [Pubmed]
  4. Transforming Growth Factor {beta} Receptor Type II Inactivation Induces the Malignant Transformation of Intestinal Neoplasms Initiated by Apc Mutation. Mu??oz, N.M., Upton, M., Rojas, A., Washington, M.K., Lin, L., Chytil, A., Sozmen, E.G., Madison, B.B., Pozzi, A., Moon, R.T., Moses, H.L., Grady, W.M. Cancer Res. (2006) [Pubmed]
  5. Transforming growth factor-beta protects human hNT cells from degeneration induced by beta-amyloid peptide: involvement of the TGF-beta type II receptor. Ren, R.F., Hawver, D.B., Kim, R.S., Flanders, K.C. Brain Res. Mol. Brain Res. (1997) [Pubmed]
  6. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Loeys, B.L., Chen, J., Neptune, E.R., Judge, D.P., Podowski, M., Holm, T., Meyers, J., Leitch, C.C., Katsanis, N., Sharifi, N., Xu, F.L., Myers, L.A., Spevak, P.J., Cameron, D.E., De Backer, J., Hellemans, J., Chen, Y., Davis, E.C., Webb, C.L., Kress, W., Coucke, P., Rifkin, D.B., De Paepe, A.M., Dietz, H.C. Nat. Genet. (2005) [Pubmed]
  7. A genetic screen for candidate tumor suppressors identifies REST. Westbrook, T.F., Martin, E.S., Schlabach, M.R., Leng, Y., Liang, A.C., Feng, B., Zhao, J.J., Roberts, T.M., Mandel, G., Hannon, G.J., Depinho, R.A., Chin, L., Elledge, S.J. Cell (2005) [Pubmed]
  8. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Lane, K.B., Machado, R.D., Pauciulo, M.W., Thomson, J.R., Phillips, J.A., Loyd, J.E., Nichols, W.C., Trembath, R.C. Nat. Genet. (2000) [Pubmed]
  9. A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. Tanaka, S., Mori, M., Mafune, K., Ohno, S., Sugimachi, K. Br. J. Cancer (2000) [Pubmed]
  10. Aberrant expression and mutations of TGF-beta receptor type II gene in endometrial cancer. Sakaguchi, J., Kyo, S., Kanaya, T., Maida, Y., Hashimoto, M., Nakamura, M., Yamada, K., Inoue, M. Gynecol. Oncol. (2005) [Pubmed]
  11. Reversion of transcriptional repression of Sp1 by 5 aza-2' deoxycytidine restores TGF-beta type II receptor expression in the pancreatic cancer cell line MIA PaCa-2. Venkatasubbarao, K., Ammanamanchi, S., Brattain, M.G., Mimari, D., Freeman, J.W. Cancer Res. (2001) [Pubmed]
  12. Bombesin/gastrin-releasing peptide receptor antagonists increase the ability of histone deacetylase inhibitors to reduce lung cancer proliferation. Moody, T.W., Nakagawa, T., Kang, Y., Jakowlew, S., Chan, D., Jensen, R.T. J. Mol. Neurosci. (2006) [Pubmed]
  13. A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency. Ji, H.P., King, M.C. Hum. Mol. Genet. (2001) [Pubmed]
  14. Activin type II receptor restoration in ACVR2-deficient colon cancer cells induces transforming growth factor-beta response pathway genes. Deacu, E., Mori, Y., Sato, F., Yin, J., Olaru, A., Sterian, A., Xu, Y., Wang, S., Schulmann, K., Berki, A., Kan, T., Abraham, J.M., Meltzer, S.J. Cancer Res. (2004) [Pubmed]
  15. Proliferation and Cdk4 expression in microsatellite unstable colon cancers with TGFBR2 mutations. Grady, W.M., Willis, J.E., Trobridge, P., Romero-Gallo, J., Munoz, N., Olechnowicz, J., Ferguson, K., Gautam, S., Markowitz, S.D. Int. J. Cancer (2006) [Pubmed]
  16. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Disabella, E., Grasso, M., Marziliano, N., Ansaldi, S., Lucchelli, C., Porcu, E., Tagliani, M., Pilotto, A., Diegoli, M., Lanzarini, L., Malattia, C., Pelliccia, A., Ficcadenti, A., Gabrielli, O., Arbustini, E. Eur. J. Hum. Genet. (2006) [Pubmed]
  17. Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22. Mathew, S., Murty, V.V., Cheifetz, S., George, D., Massagué, J., Chaganti, R.S. Genomics (1994) [Pubmed]
  18. Higher stromal expression of transforming growth factor-beta type II receptors is associated with poorer prognosis breast tumors. Barlow, J., Yandell, D., Weaver, D., Casey, T., Plaut, K. Breast Cancer Res. Treat. (2003) [Pubmed]
  19. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Singh, K.K., Rommel, K., Mishra, A., Karck, M., Haverich, A., Schmidtke, J., Arslan-Kirchner, M. Hum. Mutat. (2006) [Pubmed]
  20. Functional association of TGF-beta receptor II with cyclin B. Liu, J.H., Wei, S., Burnette, P.K., Gamero, A.M., Hutton, M., Djeu, J.Y. Oncogene (1999) [Pubmed]
  21. Expression of TGF-betas and their receptors is differentially modulated by reactive oxygen species and nitric oxide in human articular chondrocytes. Ayache, N., Boumediene, K., Mathy-Hartert, M., Reginster, J.Y., Henrotin, Y., Pujol, J.P. Osteoarthr. Cartil. (2002) [Pubmed]
  22. Transforming growth factor-beta expression in prostate neoplasia. Cardillo, M.R., Petrangeli, E., Perracchio, L., Salvatori, L., Ravenna, L., Di Silverio, F. Anal. Quant. Cytol. Histol. (2000) [Pubmed]
  23. Effect of ets-related transcription factor (ERT) on transforming growth factor (TGF)-beta type II receptor gene expression in human cancer cell lines. Lee, H.J., Chang, J.H., Kim, Y.S., Kim, S.J., Yang, H.K. J. Exp. Clin. Cancer Res. (2003) [Pubmed]
  24. Role of TGF-beta in cancer and the potential for therapy and prevention. Kaklamani, V.G., Pasche, B. Expert review of anticancer therapy. (2004) [Pubmed]
  25. Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex. Hart, P.J., Deep, S., Taylor, A.B., Shu, Z., Hinck, C.S., Hinck, A.P. Nat. Struct. Biol. (2002) [Pubmed]
  26. Biochemical evidence for the autophosphorylation and transphosphorylation of transforming growth factor beta receptor kinases. Chen, F., Weinberg, R.A. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  27. Smads in human trophoblast cells: expression, regulation and role in TGF-beta-induced transcriptional activity. Wu, D., Luo, S., Wang, Y., Zhuang, L., Chen, Y., Peng, C. Mol. Cell. Endocrinol. (2001) [Pubmed]
  28. Over-expression of ERT(ESX/ESE-1/ELF3), an ets-related transcription factor, induces endogenous TGF-beta type II receptor expression and restores the TGF-beta signaling pathway in Hs578t human breast cancer cells. Chang, J., Lee, C., Hahm, K.B., Yi, Y., Choi, S.G., Kim, S.J. Oncogene (2000) [Pubmed]
  29. TGF-beta s and TGF-beta type II receptor in human epidermis: differential expression in acute and chronic skin wounds. Schmid, P., Cox, D., Bilbe, G., McMaster, G., Morrison, C., Stähelin, H., Lüscher, N., Seiler, W. J. Pathol. (1993) [Pubmed]
  30. Transforming growth factor beta stimulates rheumatoid synovial fibroblasts via the type II receptor. Bira, Y., Tani, K., Nishioka, Y., Miyata, J., Sato, K., Hayashi, A., Nakaya, Y., Sone, S. Modern rheumatology / the Japan Rheumatism Association. (2005) [Pubmed]
  31. Fibroblasts from chronic wounds show altered TGF-beta-signaling and decreased TGF-beta Type II receptor expression. Kim, B.C., Kim, H.T., Park, S.H., Cha, J.S., Yufit, T., Kim, S.J., Falanga, V. J. Cell. Physiol. (2003) [Pubmed]
  32. TGF-beta signaling is disrupted in endometrioid-type endometrial carcinomas. Piestrzeniewicz-Ulanska, D., Brys, M., Semczuk, A., Rechberger, T., Jakowicki, J.A., Krajewska, W.M. Gynecol. Oncol. (2004) [Pubmed]
  33. Differential expression of transforming growth factor-beta isoforms in human prion diseases. Tashiro, H., Dohura, K., Iwaki, T. Neuropathol. Appl. Neurobiol. (1998) [Pubmed]
  34. Connective tissue growth factor gene expression alters tumor progression in esophageal cancer. Koliopanos, A., Friess, H., di Mola, F.F., Tang, W.H., Kubulus, D., Brigstock, D., Zimmermann, A., Büchler, M.W. World journal of surgery. (2002) [Pubmed]
  35. Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer. Alvi, A.J., Rader, J.S., Broggini, M., Latif, F., Maher, E.R. MP, Mol. Pathol. (2001) [Pubmed]
  36. Enhanced expression of transforming growth factor-beta s and transforming growth factor-beta type II receptor in the synovial tissues of patients with rheumatoid arthritis. Taketazu, F., Kato, M., Gobl, A., Ichijo, H., ten Dijke, P., Itoh, J., Kyogoku, M., Rönnelid, J., Miyazono, K., Heldin, C.H. Lab. Invest. (1994) [Pubmed]
  37. Differential regulation of follicle stimulating hormone by activin A and TGFB1 in murine gonadotropes. Gore, A.J., Philips, D.P., Miller, W.L., Bernard, D.J. Reprod. Biol. Endocrinol. (2005) [Pubmed]
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