Aliases for EYA2 Gene
External Ids for EYA2 Gene
Previous GeneCards Identifiers for EYA2 Gene
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
GeneCards Summary for EYA2 Gene
EYA2 (EYA Transcriptional Coactivator And Phosphatase 2) is a Protein Coding gene. Diseases associated with EYA2 include Cardiomyopathy, Dilated, 1J and Syndromic Microphthalmia. 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 magnesium ion binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.
UniProtKB/Swiss-Prot Summary for EYA2 Gene
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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 (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905).