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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EYA4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2070
Official gene symbolEYA4
Full nameeyes absent homolog 4 (Drosophila)
Aliases,CMD1J,DFNA10,
Gene summaryThis 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 nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq]
LocationChromosome: 6   Locus: 6q23
Gene position133562495 - 133853258  Map Viewer
Gene orientationplus
Gene size290764 bp
Gene sequence
OMIM ID603550