CBFA2T2

Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene.[5][6]

CBFA2T2
Identifiers
AliasesCBFA2T2, EHT, MTGR1, ZMYND3, p85, CBFA2/RUNX1 translocation partner 2, CBFA2/RUNX1 partner transcriptional co-repressor 2
External IDsOMIM: 603672 MGI: 1333833 HomoloGene: 3733 GeneCards: CBFA2T2
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q11.21-q11.22Start33,490,075 bp[1]
End33,650,036 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9139

12396

Ensembl

ENSG00000078699

ENSMUSG00000038533

UniProt

O43439

O70374

RefSeq (mRNA)

NM_001032999
NM_001039709
NM_005093
NM_175864

NM_001285446
NM_009823
NM_172860

RefSeq (protein)

NP_001028171
NP_001034798
NP_005084

NP_001272375
NP_033953
NP_766448

Location (UCSC)Chr 20: 33.49 – 33.65 MbChr 2: 154.44 – 154.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

Interactions

CBFA2T2 has been shown to interact with RUNX1T1.[7][8][9]

References

  1. GRCh38: Ensembl release 89: ENSG00000078699 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000038533 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2".
  7. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein–protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  8. 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. S2CID 23106882.
  9. Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (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

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


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