DISEASES

Disease-gene associations mined from literature

Literature associating EYA4 and autosomal dominant nonsyndromic deafness

EYA4 [ENSP00000432770]

EYA transcriptional coactivator and phosphatase 4; 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); Deafness associated genes

Synonyms:  EYA4,  EYA4p,  hEYA4,  E7ESD5,  E9PLN6 ...

Linkouts:  STRING  Pharos  UniProt