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Description for Protein EYA4

eyes absent homolog 4 (Drosophila)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Eyes absent 4; OTTHUMP00000040267; DJ78N10.1; eyes absent 4 isoform d; Eyes absent 4 isoform b; DFNA10; Eyes absent 4 isoform a
Approved Symbol:
EYA4
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Cardiomyopathy, dilated, 1j(Pd);
  • Deafness, autosomal dominant nonsyndromic sensorineural 10(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04648 Entrez Gene ID: 2070 OMIM ID: 603550 Swissprot Accession: Q96CJ7; O95677;