EYA3
Description
The EYA3 (EYA transcriptional coactivator and phosphatase 3) is a protein-coding gene located on chromosome 1.
EYA3 is a tyrosine phosphatase that specifically removes a phosphate group from tyrosine 142 on histone H2AX (H2AXY142ph). This phosphorylation is crucial for DNA repair, acting as a signal that distinguishes between cell death and repair in response to DNA damage. EYA3 promotes efficient DNA repair by dephosphorylating H2AX, facilitating the assembly of DNA repair complexes that include MDC1. This histone phosphatase activity likely explains EYA3's role in regulating gene expression during organ development. EYA3 cooperates with SIX1, and likely also with SIX2, SIX4, and SIX5, to activate gene expression. EYA3's interaction with SIX1 and DACH1 appears to convert the inhibitory effect of SIX1 on precursor cell proliferation in muscle cells into an activating signal. This switch in activity seems to depend on EYA3's phosphatase activity. EYA3 may play a role in eye development.
EYA3 is also known as -.
Associated Diseases
- low grade glioma
- ovarian cancer
- esophageal cancer
- urinary bladder cancer
- Brugada syndrome
- familial atrial fibrillation
- familial sick sinus syndrome
