EYA4

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]

Description

EYA transcriptional coactivator and phosphatase 4

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

6 (133240598 - 133532128)

Ensembl ID

ENSG00000112319  (ver. 103.38)

Orthologs

Mouse Eya4: ENSMUSG00000010461

UniProt

O95677

neXtProt

NX_O95677

Human splice variants
Mouse splice variants

Protein structure