Eyes absent homolog 4 (EYA4)

Function

• tyrosine phosphatase
• specifically dephosphorylates Tyr-142 of histone H2AX
• Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair & acts as a mark that distinguishes between apoptotic & 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

Cofactor: binds 1 Mg+2 ion per subunit (putative)

Structure

• belongs to the HAD-like hydrolase superfamily, EYA family

Compartment

• cytoplasm (putative)
• nucleus

Alternative splicing

named isoforms=4

Expression

• highly expressed in heart & skeletal muscle

Pathology

• defects in EYA4 are the cause of:
  • autosomal dominant sensorineural deafness type 10
  • dilated cardiomyopathy type 1J

More general terms

• eyes absent homolog
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2070
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2070
• OMIM: https://mirror.omim.org/entry/601316
• OMIM: https://mirror.omim.org/entry/603550
• OMIM: https://mirror.omim.org/entry/605362
• UniProt: http://www.uniprot.org/uniprot/O95677.html