Entity Details

Primary name EYA4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95677
EntryNameEYA4_HUMAN
FullNameEyes absent homolog 4
TaxID9606
Evidenceevidence at protein level
Length639
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesEYA4

GO terms

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GOName
GO:0004725 protein tyrosine phosphatase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006281 DNA repair
GO:0007275 multicellular organism development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0009653 anatomical structure morphogenesis
GO:0016576 histone dephosphorylation
GO:0030154 cell differentiation
GO:0045739 positive regulation of DNA repair
GO:0046872 metal ion binding
GO:0048856 anatomical structure development
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR006545 EYA domainDomainDomain
IPR028472 Eyes absent familyFamilyFamily
IPR028478 Eyes absent homologue 4FamilyFamily
IPR038102 EYA domain superfamilyFamilyHomologous superfamily
IPR042577 EYA domain, metazoanDomainDomain

Diseases

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Disease IDSourceNameDescription
605362 OMIMCardiomyopathy, dilated 1J (CMD1J)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. The disease is caused by variants affecting the gene represented in this entry.
601316 OMIMDeafness, autosomal dominant, 10 (DFNA10)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.