Disease-gene associations mined from literature

Literature associating EYA2 and syndromic microphthalmia

EYA2 [ENSP00000333640]

EYA transcriptional coactivator and phosphatase 2; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. 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. 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; Belongs to the HAD-like hydrolase superfamily. EYA family.

Synonyms:  EYA2,  EYA2p,  hEYA2,  B1AKW3,  E7ETN2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM