Disease-gene associations mined from literature

Literature associating EYA3 and Ewing sarcoma

EYA3 [ENSP00000362978]

EYA transcriptional coactivator and phosphatase 3; 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. 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; Belongs to the HAD-like hydrolase superfamily. EYA family.

Synonyms:  EYA3,  EYA3p,  hEYA3,  B1APR7,  Q99504 ...

Linkouts:  STRING  Pharos  UniProt  OMIM