Aliases for EYA3 Gene
External Ids for EYA3 Gene
Previous GeneCards Identifiers for EYA3 Gene
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for EYA3 Gene
EYA3 (EYA Transcriptional Coactivator And Phosphatase 3) is a Protein Coding gene. Diseases associated with EYA3 include Ewing Sarcoma and Cardiomyopathy, Dilated, 1J. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein tyrosine/serine/threonine phosphatase activity. An important paralog of this gene is EYA4.
UniProtKB/Swiss-Prot Summary for EYA3 Gene
Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye.