Version 5.4
Homo sapiens Gene: EYA4
Summary
InnateDB Gene IDBG-96723.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EYA4
Gene Name eyes absent homolog 4 (Drosophila)
Synonyms CMD1J; DFNA10
Species Homo sapiens
Ensembl Gene ENSG00000112319
Encoded Proteins
IDBP-96725
eyes absent homolog 4 (Drosophila)
IDBP-96727
eyes absent homolog 4 (Drosophila)
IDBP-96731
eyes absent homolog 4 (Drosophila)
IDBP-387245
eyes absent homolog 4 (Drosophila)
IDBP-387246
eyes absent homolog 4 (Drosophila)
IDBP-387270
eyes absent homolog 4 (Drosophila)
IDBP-593997
eyes absent homolog 4 (Drosophila)
IDBP-595591
eyes absent homolog 4 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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 nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
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 Information
Type Protein coding
Genomic Location Chromosome 6:133240598-133532120
Strand Forward strand
Band q23.2
Transcripts
ENST00000367895 ENSP00000356870
ENST00000355167 ENSP00000347294
ENST00000355286 ENSP00000347434
ENST00000452339 ENSP00000395916
ENST00000430974 ENSP00000388670
ENST00000421413
ENST00000431403 ENSP00000404558
ENST00000441015
ENST00000497350
ENST00000531901 ENSP00000432770
ENST00000525849 ENSP00000433219
ENST00000531861
ENST00000525614
ENST00000532518
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:0007605 sensory perception of sound
GO:0009653 anatomical structure morphogenesis
GO:0016568 chromatin modification
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0042474 middle ear morphogenesis
GO:0048839 inner ear development
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000010461
View Gene Order
ENSBTAG00000021970
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596680 Hs.598525
RefSeq NM_001301012 NM_001301013 NM_004100 NM_172103 NM_172105 XM_005266850 XM_005266851 XM_005266852 XM_005266853 XM_006715373
HUGO
OMIM
CCDS CCDS43506 CCDS5165 CCDS5166 CCDS75521 CCDS75523
HPRD 04648
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca