Gene: EYA4

Alternate names for this Gene: CMD1J|DFNA10

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: EYA transcriptional coactivator and phosphatase 4

Type of Gene: protein-coding

Gene: TARID

Alternate names for this Gene: EYA4-AS1

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: TCF21 antisense RNA inducing promoter demethylation

Type of Gene: ncRNA

rs1562505728 in EYA4;TARID gene and Deafness, Autosomal Dominant 10 PMID 15735644 2005 Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

PMID 11159937 2001 Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

PMID 17567890 2007 Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

PMID 25781927 2015 Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.

rs3822939 in EYA4;TARID gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.