EYA4 Chromosome 6
EYA transcriptional coactivator and phosphatase 4
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What This Gene Does
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]
Gene Info
Gene Group
EYA transcriptional coactivator and phosphatases
Locus Type
gene with protein product
Location
6q23.2
Ensembl
ENSG00000112319
Associated Conditions (12)
Autosomal dominant nonsyndromic hearing loss 10
Dilated cardiomyopathy 1J
Cardiovascular phenotype
EYA4-related disorder
Congestive heart failure
Ventricular tachycardia
Rare genetic deafness
Ovarian serous cystadenocarcinoma
Hearing impairment
Inborn genetic diseases
Monogenic hearing loss
Nonsyndromic genetic hearing loss
Key Variants
RS118166702
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
Health Risk
RS1191157047
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1J, Cardiovascular phenotype
Health Risk
RS1293390303
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
Health Risk
RS140170914
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 10, Cardiovascular phenotype, Dilated cardiomyopathy 1J
Health Risk
RS140401218
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
Health Risk
RS142122118
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1J, Cardiovascular phenotype, Dilated cardiomyopathy 1J
Health Risk
RS143208937
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
Health Risk
RS143613363
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1J, Cardiovascular phenotype, Dilated cardiomyopathy 1J
Health Risk
RS143757415
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1J, Cardiovascular phenotype, Autosomal dominant nonsyndromic hearing loss 10
Health Risk
RS143936434
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10, Cardiovascular phenotype
Health Risk
RS144415484
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1J, EYA4-related disorder
Health Risk
RS1458242393
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2128268726 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2128655278 | Health Risk | Likely pathogenic | — |
| RS2128674545 | Health Risk | Likely pathogenic | — |
| RS2128674984 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1J, Ovarian serous cystadenocarcinoma, Dilated cardiomyopathy 1J |
| RS2128782580 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2534858294 | Health Risk | Likely pathogenic | — |
| RS768710868 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS776491390 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS797045088 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1J, Cardiovascular phenotype, Rare genetic deafness |
| RS876657644 | Health Risk | Likely pathogenic | Rare genetic deafness, Dilated cardiomyopathy 1J, Rare genetic deafness |
| RS1057524017 | Health Risk | Pathogenic | — |
| RS1293420539 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS1554260888 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554261974 | Health Risk | Pathogenic | — |
| RS1554275988 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J, Monogenic hearing loss |
| RS1562447782 | Health Risk | Pathogenic | — |
| RS1562498114 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS1583410898 | Health Risk | Pathogenic | — |
| RS1583411013 | Health Risk | Pathogenic | — |
| RS1796355377 | Health Risk | Pathogenic | — |
| RS1798601140 | Health Risk | Pathogenic | EYA4-related disorder, Dilated cardiomyopathy 1J, EYA4-related disorder |
| RS1800334076 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS1800540581 | Health Risk | Pathogenic | — |
| RS2128658900 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS2128665071 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128665075 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128674457 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2128674939 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128707546 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128707619 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128711268 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2128781753 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2534357852 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2534855634 | Health Risk | Pathogenic | — |
| RS2534855814 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS2535335554 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2535340015 | Health Risk | Pathogenic | EYA4-related disorder, EYA4-related disorder |
| RS2535340134 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2535341785 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2535379771 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2535525055 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS537561870 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS747954279 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS878853223 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS922202185 | Health Risk | Pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS1199874172 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2484393292 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |