CBFA2T2

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
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for CBFA2T2
Genomic location for CBFA2T2
Band20q11.21-q11.22Start33,490,075 bp[1]
End33,650,036 bp[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 H1Start154,278,401 bp[2]
End154,381,276 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • middle temporal gyrus

  • sural nerve

  • external globus pallidus

  • prostate

  • subthalamic nucleus

  • corpus callosum

  • internal globus pallidus

  • inferior ganglion of vagus nerve

  • transverse colon
Top expressed in
  • substantia nigra

  • Paneth cell

  • fossa

  • barrel cortex

  • ganglionic eminence

  • cingulate gyrus

  • condyle

  • medial ganglionic eminence

  • lateral geniculate nucleus

  • suprachiasmatic nucleus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • protein binding
  • transcription corepressor activity
  • metal ion binding
Cellular component
  • nucleus
Biological process
  • negative regulation of neuron projection development
  • negative regulation of transcription, DNA-templated
  • regulation of transcription, DNA-templated
  • epithelial cell differentiation
  • transcription, DNA-templated
  • positive regulation of neuron projection development
  • negative regulation of transcription by RNA polymerase II
  • negative regulation of Notch signaling pathway
  • intestinal epithelial cell differentiation
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 a protein that in humans is encoded by the CBFA2T2 gene.[5][6]

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000078699 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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

  • Kitabayashi I, Ida K, Morohoshi F, Yokoyama A, Mitsuhashi N, Shimizu K, Nomura N, Hayashi Y, Ohki M (1998). "The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1". Mol. Cell. Biol. 18 (2): 846–58. doi:10.1128/MCB.18.2.846. PMC 108796. PMID 9447981.
  • Fracchiolla NS, Colombo G, Finelli P, Maiolo AT, Neri A (1998). "EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias". Blood. 92 (9): 3481–4. doi:10.1182/blood.V92.9.3481. PMID 9787195.
  • Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E, Suzuki M, Munakata N, Ohki M (2000). "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1". Gene. 241 (2): 287–95. doi:10.1016/S0378-1119(99)00481-3. PMID 10675041.
  • Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (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.
  • Lindberg SR, Olsson A, Persson AM, Olsson I (2004). "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.
  • Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Zhang J, Kalkum M, Yamamura S, Chait BT, Roeder RG (2004). "E protein silencing by the leukemogenic AML1-ETO fusion protein". Science. 305 (5688): 1286–9. Bibcode:2004Sci...305.1286Z. doi:10.1126/science.1097937. PMID 15333839. S2CID 850967.
  • 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 (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.
  • Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein–protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
  • Kumar R, Manning J, Spendlove HE, Kremmidiotis G, McKirdy R, Lee J, Millband DN, Cheney KM, Stampfer MR, Dwivedi PP, Morris HA, Callen DF (2006). "ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription". Mol. Cancer Res. 4 (9): 655–65. doi:10.1158/1541-7786.MCR-05-0249. PMID 16966434.

External links

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

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine 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) Helix-turn-helix domains
(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
see also transcription factor/coregulator deficiencies


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