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CBFA2T2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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;OMA:CBFA2T2 - orthologs
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for CBFA2T2
Genomic location for CBFA2T2
Band20q11.21-q11.22Start33,490,075bp[1]
End33,650,036bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for CBFA2T2
Genomic location for CBFA2T2
Band2|2 H1Start154,278,401bp[2]
End154,381,276bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • buccal mucosa cell

  • ganglionic eminence

  • middle temporal gyrus

  • sural nerve

  • lateral nuclear group of thalamus

  • pars reticulata

  • external globus pallidus

  • tendon of biceps brachii

  • prostate

  • subthalamic nucleus
Top expressed in
  • substantia nigra

  • Paneth cell

  • ventricular zone

  • fossa

  • barrel cortex

  • ganglionic eminence

  • cingulate gyrus

  • condyle

  • epithelium of lens

  • tail of embryo
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 154.28 – 154.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein CBFA2T2 is aprotein that in humans is encoded by theCBFA2T2gene.[5][6]

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.[6]

Interactions

[edit]

CBFA2T2 has been shown tointeract withRUNX1T1.[7][8][9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000078699Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000038533Ensembl, 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. ^ab"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

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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