Background information
A gene on chromosome 20q13.1 encodes Eya2 (eyes absent). EYA2 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxy-terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serive-threonin)-rich amino-terminal is highly divergent. EYA2 is expressed relatively late in development in the cytoplasm of extensor tendons and ligaments of the phalangeal elements of the limb, cranial placodes, branchial arches, central nervous system, and the developing eye. Pax3 induces the expression of Eya2 in a cascade that is necessary and sufficient for myogenesis. EYA2, like EYA1, acts as a transcriptional activator in connective tissue patterning through its PST domain, which functions as a transactivation domain. EYA2 is translocated to the nucleus by Six proteins, which interact through their domain and homeodomain with EYA2. EYA2 carboxy-terminal interacts with the G Alpha z and G Alphai 2 proteins. This interaction prevents Six proteins from translocating EYA2 to the nucleus.
