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Gene Review

CBFA2T3  -  core-binding factor, runt domain, alpha...

Homo sapiens

Synonyms: ETO2, MTG16, MTG8-related protein 2, MTGR2, Myeloid translocation gene on chromosome 16 protein, ...
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Disease relevance of CBFA2T3


High impact information on CBFA2T3


Biological context of CBFA2T3


Anatomical context of CBFA2T3

  • Here we show that AML1-MTG16 blocks both myeloid differentiation and proliferation in the 32D/WT1-mouse myeloid cell line [2].
  • The MTG16 transcripts of CD34(+) progenitor cells were rapidly downregulated by cytokine-induced differentiation into myeloid or erythroid lineages [3].
  • To further investigate the mechanism by which s80 may mediate differentiation, we tested whether s80 regulates Eto2, a transcriptional corepressor that is involved in erythrocyte differentiation and is also implicated in human breast cancer [9].

Associations of CBFA2T3 with chemical compounds


Other interactions of CBFA2T3

  • Although the reciprocal chimeric product, MTG16-AML1, was also detected in one of the t(16;21) patients, its protein product was predicted to be truncated [6].
  • Three of the genes, CYBA, Hs.7970, and CBFA2T3, exhibited variability ten times higher than the baseline [10].
  • Transcriptional reporter assays further confirmed the strength and selectivity of the ZNF652-CBFA2T3 interaction [11].
  • Several genes have been suggested as potential candidates (e.g. CBFA2T3, CTCF and WWOX) but no inactivating mutations could be identified in these genes and they thus fail to fit the classic two-hit model for a TSG [12].

Analytical, diagnostic and therapeutic context of CBFA2T3

  • Northern blot analysis using MTG16 probes mainly detected 4.5 kb and 4.2 kb RNAs, along with several other minor RNAs in various human tissues [6].
  • Southern blot analysis revealed a breakpoint occurring at a 1.4 kb Eco RI fragment between exons 3 and 4 of MTG16 [4].
  • RT-PCR analysis identified expression of the chimeric gene AML1-MTG16 [4].


  1. CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3. Kochetkova, M., McKenzie, O.L., Bais, A.J., Martin, J.M., Secker, G.A., Seshadri, R., Powell, J.A., Hinze, S.J., Gardner, A.E., Spendlove, H.E., O'Callaghan, N.J., Cleton-Jansen, A.M., Cornelisse, C., Whitmore, S.A., Crawford, J., Kremmidiotis, G., Sutherland, G.R., Callen, D.F. Cancer Res. (2002) [Pubmed]
  2. Myeloid maturation block by AML1-MTG16 is associated with Csf1r epigenetic downregulation. Rossetti, S., Van Unen, L., Touw, I.P., Hoogeveen, A.T., Sacchi, N. Oncogene (2005) [Pubmed]
  3. The Leukemia-associated ETO homologues are differently expressed during hematopoietic differentiation. Lindberg, S.R., Olsson, A., Persson, A.M., Olsson, I. Exp. Hematol. (2005) [Pubmed]
  4. A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene. Kondoh, K., Nakata, Y., Furuta, T., Hosoda, F., Gamou, T., Kurosawa, Y., Kinoshita, A., Ohki, M., Tomita, Y., Mori, T. Leuk. Lymphoma (2002) [Pubmed]
  5. ETO2 coordinates cellular proliferation and differentiation during erythropoiesis. Goardon, N., Lambert, J.A., Rodriguez, P., Nissaire, P., Herblot, S., Thibault, P., Dumenil, D., Strouboulis, J., Romeo, P.H., Hoang, T. EMBO J. (2006) [Pubmed]
  6. The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. Gamou, T., Kitamura, E., Hosoda, F., Shimizu, K., Shinohara, K., Hayashi, Y., Nagase, T., Yokoyama, Y., Ohki, M. Blood (1998) [Pubmed]
  7. Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. Morohoshi, F., Mitani, S., Mitsuhashi, N., Kitabayashi, I., Takahashi, E., Suzuki, M., Munakata, N., Ohki, M. Gene (2000) [Pubmed]
  8. Aberrant CBFA2T3B gene promoter methylation in breast tumors. Bais, A.J., Gardner, A.E., McKenzie, O.L., Callen, D.F., Sutherland, G.R., Kremmidiotis, G. Mol. Cancer (2004) [Pubmed]
  9. ErbB-4 s80 intracellular domain abrogates ETO2-dependent transcriptional repression. Linggi, B., Carpenter, G. J. Biol. Chem. (2006) [Pubmed]
  10. Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes. Powell, J.A., Gardner, A.E., Bais, A.J., Hinze, S.J., Baker, E., Whitmore, S., Crawford, J., Kochetkova, M., Spendlove, H.E., Doggett, N.A., Sutherland, G.R., Callen, D.F., Kremmidiotis, G. Genomics (2002) [Pubmed]
  11. ZNF652, A Novel Zinc Finger Protein, Interacts with the Putative Breast Tumor Suppressor CBFA2T3 to Repress Transcription. Kumar, R., Manning, J., Spendlove, H.E., Kremmidiotis, G., McKirdy, R., Lee, J., Millband, D.N., Cheney, K.M., Stampfer, M.R., Dwivedi, P.P., Morris, H.A., Callen, D.F. Mol. Cancer Res. (2006) [Pubmed]
  12. Expression analysis of candidate breast tumour suppressor genes on chromosome 16q. van Wezel, T., Lombaerts, M., van Roon, E.H., Philippo, K., Baelde, H.J., Szuhai, K., Cornelisse, C.J., Cleton-Jansen, A.M. Breast Cancer Res. (2005) [Pubmed]
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