EMSY gene

EMSY is the acronym for "EMSY Transcriptional Repressor, BRCA2 Interacting" and refers to a protein-coding gene located on chromosome 11q13.5. The encoded protein acts as a regulator capable of repressing transcription, possibly via its interaction with a multiprotein chromatin restructuring complex that modifies chromatin . Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (Hughes-Davies L et al. 2003; Rodriguez C et al. 2004). Mediates ligand-dependent transcriptional activation through nuclear hormone receptors.

Diseases associated with EMSY include sporadic breast cancer and peanut allergy (Asai Yet al. 2018). Its related signaling pathways include the Mesodermal Commitment Pathway.

1. Asai Yet al. (2018) Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. J Allergy Clin Immunol 141:991-1001.
2. Hughes-Davies L et al (2003) EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell 115:523-535.
3. Rodriguez C et al (2004) Amplification of the BRCA2 pathway gene EMSY in sporadic breast cancer is related to negative outcome. Clin Cancer Res 10:5785-5791.