Aliases for EYA4 Gene
External Ids for EYA4 Gene
Previous HGNC Symbols for EYA4 Gene
Previous GeneCards Identifiers for EYA4 Gene
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for EYA4 Gene
EYA4 (EYA Transcriptional Coactivator And Phosphatase 4) is a Protein Coding gene. Diseases associated with EYA4 include Deafness, Autosomal Dominant 10 and Cardiomyopathy, Dilated, 1J. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.
UniProtKB/Swiss-Prot for EYA4 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. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity).