The EYA2 gene is located on chromosome 20 (20q13.12) in humans . The gene produces multiple transcript variants encoding different isoforms of the EYA2 protein . The full-length human recombinant EYA2 protein consists of 538 amino acids and is often tagged with GST (Glutathione S-transferase) at the N-terminal for research purposes .
EYA2 functions as a transcriptional coactivator and a phosphatase. It has been shown to play a crucial role in eye development and other developmental processes. In particular, EYA2 is involved in the regulation of transcription, DNA repair, and cellular response to DNA damage .
One of the key functions of EYA2 is its role as a tyrosine phosphatase. It specifically dephosphorylates ‘Tyr-142’ of histone H2AX (H2AXY142ph), which is essential for efficient DNA repair. By dephosphorylating H2AX, EYA2 promotes the recruitment of DNA repair complexes containing MDC1, thereby facilitating the DNA repair process .
EYA2 is involved in several biological processes, including:
Recombinant human EYA2 protein is widely used in research to study its function and role in various biological processes. It is often used in assays such as Western blot, ELISA, and protein arrays . However, it is important to note that recombinant EYA2 protein may contain endotoxins and is not suitable for use with live cells .