CBFA2T3

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.^[5][6]

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)[1] Band 16q24.3 Start 88,874,858 bp[1] End 88,977,207 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 123,351,880 bp[2] End 123,425,848 bp[2]
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 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 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 [3] [4]
Wikidata
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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.^[6]

Interactions

CBFA2T3 has been shown to interact with:

• HDAC1,^[7][8]
• HDAC3,^[7][8]
• LDB1,^[9]
• PRKAR2A,^[10]
• RUNX1T1^[7][11] and
• TAL1,^[9] and
• TCF3.^[9]