CBFA2T3
Identifiers
AliasesCBFA2T3, ETO2, MTG16, MTGR2, ZMYND4, RUNX1T3, CBFA2/RUNX1 translocation partner 3, CBFA2/RUNX1 partner transcriptional co-repressor 3
External IDsOMIM: 603870 MGI: 1338013 HomoloGene: 74543 GeneCards: CBFA2T3
Orthologs
SpeciesHumanMouse
Entrez

863

12398

Ensembl

ENSG00000129993

ENSMUSG00000006362

UniProt

O75081

O54972

RefSeq (mRNA)

NM_005187
NM_175931

NM_001109873
NM_009824
NM_177289

RefSeq (protein)

NP_005178
NP_787127

NP_001103343
NP_033954
NP_796263

Location (UCSC)Chr 16: 88.87 – 88.98 MbChr 8: 123.35 – 123.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) is a protein that in humans is encoded by the CBFA2T3 gene.[5][6]

Function

The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus.[6]

Interactions

CBFA2T3 has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129993 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006362 - 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 (Dec 1998). "CBFA2T1 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3), 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. ^ a b "Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3".
  7. ^ a b c Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (Sep 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.
  8. ^ a b Amann JM, Nip J, Strom DK, Lutterbach B, Harada H, Lenny N, Downing JR, Meyers S, Hiebert SW (Oct 2001). "ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain". Mol. Cell. Biol. 21 (19): 6470–83. doi:10.1128/mcb.21.19.6470-6483.2001. PMC 99794. PMID 11533236.
  9. ^ a b c Goardon N, Lambert JA, Rodriguez P, Nissaire P, Herblot S, Thibault P, Dumenil D, Strouboulis J, Romeo PH, Hoang T (Jan 2006). "ETO2 coordinates cellular proliferation and differentiation during erythropoiesis". EMBO J. 25 (2): 357–66. doi:10.1038/sj.emboj.7600934. PMC 1383517. PMID 16407974.
  10. ^ Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW (Feb 2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes". J. Immunol. 168 (4): 1590–9. doi:10.4049/jimmunol.168.4.1590. PMID 11823486.
  11. ^ Lindberg SR, Olsson A, Persson AM, Olsson I (Dec 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.

Further reading

External links

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


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Transcription factors and intracellular receptors
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