EYA4

Name

EYA transcriptional coactivator and phosphatase 4

Type

protein-coding

Position

133,240,514–133,532,128 (+)

Aliases

CMD1J, DFNA10

Ensembl

ENSG00000112319

RefSeq RNA

NM_001301012.2, NM_001301013.2, NM_001370458.1, NM_001370459.1, NM_004100.5

RefSeq protein

NP_001287941.1, NP_001287942.1, NP_001357387.1, NP_001357388.1, NP_004091.3

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014].