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Gene Review

ACVR2A  -  activin A receptor, type IIA

Homo sapiens

Synonyms: ACTR-IIA, ACTRII, ACTRIIA, ACVR2, Activin receptor type IIA, ...
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Disease relevance of ACVR2A


High impact information on ACVR2A


Biological context of ACVR2A


Other interactions of ACVR2A

  • For transmembrane signaling, activins bind directly to activin receptor type 2A (ACVR2A) or 2B (ACVR2B) [7].
  • ACVR2 is a member of the transforming growth factor (TGF)-beta type II receptor (TGFBR2) family and controls cell growth and differentiation [6].
  • However, no difference was observed in levels of betaB subunit, or in activin receptor type IIA and IIB mRNAs following activin treatments in OVCAR-3 cells [2].
  • Of 44 amplifiable MSI-H Dukes B2 tumors, 70% harbored TGFBR2, 63% BAX and only 4.5% ACVR2 mutations [8].
  • CONCLUSIONS: The present data suggest that the disruption of the transforming growth factor-beta super-family signaling pathway by the alteration of the ACVR2 and/or TGFbetaRII genes and the disruption of antiproliferative function by the PTHLH gene alteration contribute to the development of early colorectal cancer [9].

Analytical, diagnostic and therapeutic context of ACVR2A


  1. Loss of activin receptor type 2 protein expression in microsatellite unstable colon cancers. Jung, B., Doctolero, R.T., Tajima, A., Nguyen, A.K., Keku, T., Sandler, R.S., Carethers, J.M. Gastroenterology (2004) [Pubmed]
  2. Differential expression of activin/inhibin subunit and activin receptor mRNAs in normal and neoplastic ovarian surface epithelium (OSE). Choi, K.C., Kang, S.K., Nathwani, P.S., Cheng, K.W., Auersperg, N., Leung, P.C. Mol. Cell. Endocrinol. (2001) [Pubmed]
  3. Truncating mutations in the ACVR2 gene attenuates activin signaling in prostate cancer cells. Rossi, M.R., Ionov, Y., Bakin, A.V., Cowell, J.K. Cancer Genet. Cytogenet. (2005) [Pubmed]
  4. Evidence of selection for clones having genetic inactivation of the activin A type II receptor (ACVR2) gene in gastrointestinal cancers. Hempen, P.M., Zhang, L., Bansal, R.K., Iacobuzio-Donahue, C.A., Murphy, K.M., Maitra, A., Vogelstein, B., Whitehead, R.H., Markowitz, S.D., Willson, J.K., Yeo, C.J., Hruban, R.H., Kern, S.E. Cancer Res. (2003) [Pubmed]
  5. Molecular phenotype of inflammatory bowel disease-associated neoplasms with microsatellite instability. Schulmann, K., Mori, Y., Croog, V., Yin, J., Olaru, A., Sterian, A., Sato, F., Wang, S., Xu, Y., Deacu, E., Berki, A.T., Hamilton, J.P., Kan, T., Abraham, J.M., Schmiegel, W., Harpaz, N., Meltzer, S.J. Gastroenterology (2005) [Pubmed]
  6. 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]
  7. No evidence for linkage or for diabetes-associated mutations in the activin type 2B receptor gene (ACVR2B) in French patients with mature-onset diabetes of the young or type 2 diabetes. Dupont, S., Hani, E.H., Cras-Méneur, C., De Matos, F., Lobbens, S., Lecoeur, C., Vaxillaire, M., Scharfmann, R., Froguel, P. Diabetes (2001) [Pubmed]
  8. Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. Jung, B., Smith, E.J., Doctolero, R.T., Gervaz, P., Alonso, J.C., Miyai, K., Keku, T., Sandler, R.S., Carethers, J.M. Int. J. Cancer (2006) [Pubmed]
  9. Accumulation profile of frameshift mutations during development and progression of colorectal cancer from patients with hereditary nonpolyposis colorectal cancer. Yamaguchi, T., Iijima, T., Mori, T., Takahashi, K., Matsumoto, H., Miyamoto, H., Hishima, T., Miyaki, M. Dis. Colon Rectum (2006) [Pubmed]
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