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CBFA2T3

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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;OMA:CBFA2T3 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for CBFA2T3
Genomic location for CBFA2T3
Band16q24.3Start88,874,858bp[1]
End88,977,207bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for CBFA2T3
Genomic location for CBFA2T3
Band8|8 E1Start123,351,880bp[2]
End123,425,848bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right hemisphere of cerebellum

  • thymus

  • apex of heart

  • monocyte

  • granulocyte

  • body of pancreas

  • spleen

  • right lung

  • paraflocculus of cerebellum

  • bone marrow cell
Top expressed in
  • internal carotid artery

  • external carotid artery

  • cumulus cell

  • tibiofemoral joint

  • aortic valve

  • muscle of thigh

  • lumbar subsegment of spinal cord

  • ascending aorta

  • thymus

  • blood
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 aprotein that in humans is encoded by theCBFA2T3gene.[5][6]

Function

[edit]

The t(16;21)(q24;q22) translocation is a rare but recurrentchromosomal abnormality associated with therapy-related myeloidmalignancies. The translocation produces a chimeric gene made up of the 5'-region of theAML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breasttumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and abrefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in theGolgi apparatus.[6]

Interactions

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CBFA2T3 has been shown tointeract with:

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000129993Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000006362Ensembl, 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. ^ab"Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3".
  7. ^abcHoogeveen 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. ^abAmann 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. ^abcGoardon 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

[edit]

External links

[edit]
PDB gallery
  • 2h7b: Solution structure of the eTAFH domain from the human leukemia-associated fusion protein AML1-ETO
    2h7b: Solution structure of the eTAFH domain from the human leukemia-associated fusion protein AML1-ETO
(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

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


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