CBFA2T2

Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene.^[5][6]

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)[1] Band 20q11.21-q11.22 Start 33,490,075 bp[1] End 33,650,036 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H1 Start 154,278,401 bp[2] End 154,381,276 bp[2]
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 [3] [4]
Wikidata
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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]