InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EYA4

Summary

InnateDB Protein

IDBP-387270.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EYA4

Protein Name

eyes absent homolog 4 (Drosophila)

Synonyms

CMD1J; DFNA10;

Species

Homo sapiens

Ensembl Protein

ENSP00000404558

InnateDB Gene

IDBG-96723 (EYA4)

Protein Structure

UniProt Annotation

Function

Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.

Disease Associations

Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: 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. {ECO:0000269PubMed:11159937}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: 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. {ECO:0000269PubMed:15735644}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart and skeletal muscle. {ECO:0000269PubMed:15735644}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004725	protein tyrosine phosphatase activity
GO:0046872	metal ion binding

Biological Process

GO:0006281	DNA repair
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0007601	visual perception
GO:0009653	anatomical structure morphogenesis
GO:0016568	chromatin modification
GO:0035335	peptidyl-tyrosine dephosphorylation