Literature associating EYA2 and Axenfeld-Rieger syndrome
EYA2 [ENSP00000333640]
Eyes absent homolog 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 . ECO:0000269|PubMed:19351884, ECO:0000269|PubMed:21706047,; Belongs to the HAD-like hydrolase superfamily. EYA family.
Synonyms: EYA2, EYA2p, hEYA2, B1AKW3, E7ETN2 ...