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Core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Symbols CBFA2T2; DKFZp313F2116; EHT; MTGR1; ZMYND3
External IDs OMIM603672 MGI1333833 HomoloGene3733 GeneCards: CBFA2T2 Gene
RNA expression pattern
PBB GE CBFA2T2 207625 s at tn.png
PBB GE CBFA2T2 209144 s at tn.png
PBB GE CBFA2T2 209145 s at tn.png
More reference expression data
Species Human Mouse
Entrez 9139 12396
Ensembl ENSG00000078699 ENSMUSG00000038533
UniProt O43439 Q30BK8
RefSeq (mRNA) NM_001032999 NM_172860
RefSeq (protein) NP_001028171 NP_766448
Location (UCSC) Chr 20:
31.54 - 31.7 Mb
Chr 2:
154.13 - 154.23 Mb
PubMed search [1] [2]

Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene.[1][2]

In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described.[2]



CBFA2T2 has been shown to interact with RUNX1T1.[3][4][5]


  1. ^ Calabi F, Cilli V (Dec 1998). "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family". Genomics 52 (3): 332–41. doi:10.1006/geno.1998.5429. PMID 9790752.  
  2. ^ a b "Entrez Gene: CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2".  
  3. ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct. 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.  
  4. ^ Lindberg, Sofia Rondin; Olsson André, Persson Ann-Maj, Olsson Inge (Dec. 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. (Denmark) 71 (6): 439–47. ISSN 0902-4441. PMID 14703694.  
  5. ^ Hoogeveen, André T; Rossetti Stefano, Stoyanova Violeta, Schonkeren Joris, Fenaroli Angelia, Schiaffonati Luisa, van Unen Leontine, Sacchi Nicoletta (Sep. 2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene (England) 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. ISSN 0950-9232. PMID 12242670.  

Further reading

  • Kitabayashi I, Ida K, Morohoshi F, et al. (1998). "The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1.". Mol. Cell. Biol. 18 (2): 846–58. PMID 9447981.  
  • Fracchiolla NS, Colombo G, Finelli P, et al. (1998). "EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.". Blood 92 (9): 3481–4. PMID 9787195.  
  • Morohoshi F, Mitani S, Mitsuhashi N, et al. (2000). "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1.". Gene 241 (2): 287–95. doi:10.1016/S0378-1119(99)00481-3. PMID 10675041.  
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.  
  • Hoogeveen AT, Rossetti S, Stoyanova V, et al. (2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies.". Oncogene 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Lindberg SR, Olsson A, Persson AM, Olsson I (2004). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins.". Eur. J. Haematol. 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694.  
  • Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.  
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.  
  • Zhang J, Kalkum M, Yamamura S, et al. (2004). "E protein silencing by the leukemogenic AML1-ETO fusion protein.". Science 305 (5688): 1286–9. doi:10.1126/science.1097937. PMID 15333839.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.  
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.  
  • Kumar R, Manning J, Spendlove HE, et al. (2006). "ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription.". Mol. Cancer Res. 4 (9): 655–65. doi:10.1158/1541-7786.MCR-05-0249. PMID 16966434.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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