EYA4

GENE INFORMATION

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Gene name

EYA4 (HGNC Symbol)

Synonyms

CMD1J, DFNA10

Description

Eyes absent homolog 4 (Drosophila) (HGNC Symbol)

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 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]

Chromosome

6

Cytoband

q23.2

Chromosome location (bp)

133561736 - 133853258

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000112319 (version 75.37)

Entrez gene

2070

UniProt

O95677 (UniProt - Evidence at protein level)

neXtProt

NX_O95677

Antibodypedia

EYA4 antibodies
 

PROTEIN VIEW

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EYA4-001
 
EYA4-002
 
EYA4-006
 
EYA4-007
 
EYA4-008
 
EYA4-009
 
EYA4-011
 
EYA4-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EYA4-001 ENSP00000356870
ENST00000367895
O95677
Show all »
Show » Show » 639 69.5 No 0
EYA4-002 ENSP00000433219
ENST00000525849
E9PLN6
Show all »
Show » Show » 616 67 No 0
EYA4-006 ENSP00000395916
ENST00000452339
O95677
Show all »
Show » Show » 585 63.9 No 0
EYA4-007 ENSP00000388670
ENST00000430974
E7ESD5
Show all »
Show » Show » 570 62 No 0
EYA4-008 ENSP00000347434
ENST00000355286
O95677
Show all »
Show » Show » 616 67.1 No 0
EYA4-009 ENSP00000432770
ENST00000531901
F2Z2Y1
Show all »
Show » Show » 645 70.1 No 0
EYA4-011 ENSP00000404558
ENST00000431403
O95677
Show all »
Show » Show » 639 69.4 No 0
EYA4-201 ENSP00000347294
ENST00000355167
O95677
Show all »
Show » Show » 639 69.4 No 0