InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Eya4

Summary

InnateDB Gene

IDBG-137824.6

Last Modified

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

Gene Symbol

Eya4

Gene Name

eyes absent 4 homolog (Drosophila)

Synonyms

B130023L16Rik

Species

Mus musculus

Ensembl Gene

ENSMUSG00000010461

Encoded Proteins

IDBP-137826

eyes absent 4 homolog (Drosophila)

IDBP-137828

eyes absent 4 homolog (Drosophila)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000112319:
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 10:23104168-23349895

Strand

Reverse strand

Band

Transcripts

ENSMUST00000074366	ENSMUSP00000073970
ENSMUST00000092665	ENSMUSP00000090335

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
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:0007605	sensory perception of sound
GO:0016568	chromatin modification
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0042474	middle ear morphogenesis
GO:0048839	inner ear development

Cellular Component

GO:0005575	cellular_component
GO:0005634	nucleus
GO:0005737	cytoplasm

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000112319

View Gene Order

ENSBTAG00000021970

Not yet available

Cross-References

SwissProt

Q9Z191

TrEMBL

UniProt Splice Variant

Entrez Gene

14051

UniGene

Mm.332128

RefSeq

NM_010167 XM_006512522 XM_006512523 XM_006512524 XM_006512525 XM_006512526 XM_006512527 XM_006512528 XM_006512531

OMIM

CCDS

CCDS35867

HPRD

IMGT

MGI ID

MGI:1337104

MGI Symbol

Eya4

EMBL

AJ007997 BC120899 CH466540 Y17115

GenPept

AAI20900 CAA07820 CAA76637 EDL04766

RNA Seq Atlas

14051