Biology:CBFA2T2

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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

Function

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

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

References

  1. "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family". Genomics 52 (3): 332–41. December 1998. doi:10.1006/geno.1998.5429. PMID 9790752. 
  2. 2.0 2.1 "Entrez Gene: CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9139. 
  3. "Towards a proteome-scale map of the human protein–protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode2005Natur.437.1173R. 
  4. "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. 71 (6): 439–47. December 2003. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694. 
  5. "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene 21 (43): 6703–12. September 2002. doi:10.1038/sj.onc.1205882. PMID 12242670. 

Further reading

External links

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