CBFA2T2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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_009823
RefSeq (protein) NP_001028171 NP_033953
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]

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, 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 (October 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 (December 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. (Denmark) 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. ISSN 0902-4441. PMID 14703694. 
  5. ^ Hoogeveen, André T; Rossetti Stefano; Stoyanova Violeta; Schonkeren Joris; Fenaroli Angelia; Schiaffonati Luisa; van Unen Leontine; Sacchi Nicoletta (September 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[edit]

External links[edit]

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