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 CBFA2T3. In addition, CBFA2T3 is a putative breast tumor suppressor.

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ETS2 contains an ETS DNA-binding domain and belongs to the ETS family. ETS2 is a target of protein kinase C and upregulates GM-CSF. Ets2 and its targets play essential roles in endothelial cell function. Coexpression of Ets-2 and SRC-1 significantly associated with the rate of recurrence and HER expression in breast cancer. Overexpression of ETS2 is associated with human esophageal squamous cell carcinoma. ETS transcriptions factors, such as ETS2, regulate numerous genes and are involved in stem cell development, cell senescence and death, and tumorigenesis. The conserved ETS domain within these proteins is a winged helix-turn-helix DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T of target genes (Dwyer et al., 2007 [PubMed 17986575]).[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Search for the P100751_P050