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CBFA2T2
Identifiers
Aliases	CBFA2T2, EHT, MTGR1, ZMYND3, p85, CBFA2/RUNX1 translocation partner 2, CBFA2/RUNX1 partner transcriptional co-repressor 2
External IDs	OMIM: 603672; MGI: 1333833; HomoloGene: 3733; GeneCards: CBFA2T2; OMA:CBFA2T2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q11.21-q11.22 Start 33,490,075 bp End 33,650,036 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H1 Start 154,278,401 bp End 154,381,276 bp
RNA expression pattern Bgee Human Mouse (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 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 Species Human Mouse 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 Mb Chr 2: 154.28 – 154.38 Mb PubMed search
Wikidata
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Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene.

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.

Interactions

CBFA2T2 has been shown to interact with RUNX1T1.

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

• 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

• CBFA2T2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CBFA2T2 genome location and CBFA2T2 gene details page in the UCSC Genome Browser.

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

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