CBFA2T2

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Core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Identifiers
Symbols CBFA2T2 ; EHT; MTGR1; ZMYND3; p85
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
Orthologs
Species Human Mouse
Entrez 9139 12396
Ensembl ENSG00000078699 ENSMUSG00000038533
UniProt O43439 O70374
RefSeq (mRNA) NM_001032999 NM_001285446
RefSeq (protein) NP_001028171 NP_001272375
Location (UCSC) Chr 20:
32.08 – 32.24 Mb
Chr 2:
154.44 – 154.54 Mb
PubMed search [1] [2]

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

Function[edit]

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]

Interactions[edit]

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

References[edit]

  1. ^ Calabi F, Cilli V (December 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 JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  4. ^ Lindberg SR, Olsson A, Persson AM, Olsson I (December 2003). "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. 
  5. ^ Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L et al. (September 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. 

Further reading[edit]

External links[edit]

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