| This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16,21)(q24,q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5-region of the runt-related transcription factor 1 gene fused to the 3-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010],disease:A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16,21)(q24,q22) that forms a RUNX1-CBFA2T3 fusion protein.,function:Functions as a transcriptional repressor. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation. Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).,induction:Down-regulated by all-trans retinoic acid.,similarity:Belongs to the CBFA2T family.,similarity:Contains 1 MYND-type zinc finger.,similarity:Contains 1 TAFH (NHR1) domain.,subcellular location:The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm.,subunit:Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Heterodimer with RUNX1T1 and CBFA2T2. Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to Hoogeveen et al (PubMed:12242670) may not interact with HDAC6. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A.,tissue specificity:Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level)., |
