EYA2
Description
The EYA2 (EYA transcriptional coactivator and phosphatase 2) is a protein-coding gene located on chromosome 20.
The EYA2 gene encodes a protein belonging to the eyes absent (EYA) family. This protein may undergo post-translational modifications and plays a role in eye development. A similar protein in mice functions as a transcriptional activator. Five transcript variants have been identified for EYA2, leading to three distinct isoforms.
EYA2 acts as both a protein phosphatase and a transcriptional coactivator, partnering with SIX1 and potentially other SIX family members (SIX2, SIX4, SIX5). Its phosphatase activity targets histone H2AX, specifically dephosphorylating tyrosine 142 (H2AXY142ph). This dephosphorylation is crucial for efficient DNA repair, as it enables the recruitment of DNA repair complexes containing MDC1. The phosphorylation status of H2AX at tyrosine 142 is a critical marker in DNA repair, distinguishing between apoptotic and repair responses to DNA damage. EYA2's role as a histone phosphatase might also contribute to its regulatory functions in transcription during organ development. In collaboration with SIX1 and DACH2, EYA2 plays a significant role in hypaxial muscle development, with overlapping functions with EYA1.
EYA2 is also known as EAB1.
