CBFA2T3

CBFA2T3
Identifiers
Aliases	CBFA2T3, ETO2, MTG16, MTGR2, ZMYND4, RUNX1T3, CBFA2/RUNX1 translocation partner 3, CBFA2/RUNX1 partner transcriptional co-repressor 3
External IDs	OMIM: 603870; MGI: 1338013; HomoloGene: 74543; GeneCards: CBFA2T3; OMA:CBFA2T3 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q24.3 Start 88,874,858 bp End 88,977,207 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 E1 Start 123,351,880 bp End 123,425,848 bp
RNA expression pattern Bgee Human Mouse (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 cells 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 DNA-binding transcription factor activity protein binding metal ion binding transcription corepressor activity Cellular component Golgi membrane Golgi apparatus nucleolus membrane nucleus nucleoplasm Biological process regulation of aerobic respiration cell differentiation cell population proliferation negative regulation of glycolytic process response to hypoxia granulocyte differentiation regulation of transcription, DNA-templated positive regulation of proteasomal ubiquitin-dependent protein catabolic process transcription, DNA-templated negative regulation of cell population proliferation negative regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 8: 123.35 – 123.43 Mb PubMed search
Wikidata
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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.

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.

Interactions

CBFA2T3 has been shown to interact with:

• HDAC1,
• HDAC3,
• LDB1,
• PRKAR2A,
• RUNX1T1 and
• TAL1, and
• TCF3.

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.
• Gamou T, Kitamura E, Hosoda F, Shimizu K, Shinohara K, Hayashi Y, Nagase T, Yokoyama Y, Ohki M (1998). "The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family". Blood. 91 (11): 4028–37. doi:10.1182/blood.V91.11.4028. PMID 9596646.
• Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW (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.
• Kondoh K, Nakata Y, Furuta T, Hosoda F, Gamou T, Kurosawa Y, Kinoshita A, Ohki M, Tomita Y, Mori T (2003). "A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene". Leuk. Lymphoma. 43 (2): 415–20. doi:10.1080/10428190290006242. PMID 11999578. S2CID 23133496.
• Kochetkova M, McKenzie OL, Bais AJ, Martin JM, Secker GA, Seshadri R, Powell JA, Hinze SJ, Gardner AE, Spendlove HE, O'Callaghan NJ, Cleton-Jansen AM, Cornelisse C, Whitmore SA, Crawford J, Kremmidiotis G, Sutherland GR, Callen DF (2002). "CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3". Cancer Res. 62 (16): 4599–604. PMID 12183414.
• Powell JA, Gardner AE, Bais AJ, Hinze SJ, Baker E, Whitmore S, Crawford J, Kochetkova M, Spendlove HE, Doggett NA, Sutherland GR, Callen DF, Kremmidiotis G (2003). "Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes". Genomics. 80 (3): 303–10. doi:10.1006/geno.2002.6828. PMID 12213200.
• 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.
• Ibañez V, Sharma A, Buonamici S, Verma A, Kalakonda S, Wang J, Kadkol S, Saunthararajah Y (2004). "AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation". Cancer Res. 64 (13): 4547–54. doi:10.1158/0008-5472.CAN-03-3689. PMID 15231665.
• 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

• CBFA2T3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CBFA2T3 genome location and CBFA2T3 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.