Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Eya4. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 24, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Eya4
  • participates in the following biological processes:
    • middle ear morphogenesis ^[1]
    • sensory perception of sound ^[1]

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Summary text based on GO annotations supported by structural data

• Eya4 encodes a protein or proteins that contain the following InterPro domains: EYA, indicating that the gene product:
  • participates in the following biological processes:
    • multicellular organismal development

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Eya4 indicates that it:
  • participates in the following biological processes:
    • chromatin modification
    • DNA repair
    • multicellular organismal development
    • regulation of transcription, DNA-dependent
    • response to DNA damage stimulus
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • hydrolase activity
    • metal ion binding
    • phosphoprotein phosphatase activity
  • is located in the following cellular components:
    • cytoplasm
    • nucleus
• Eya4 has been associated with the Enzyme Commission numbers: 3.1.3.48, which implies that the gene product:
  • performs the following molecular functions:
    • protein tyrosine phosphatase activity
• Annotations directly to for the gene Eya4 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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References

1. Depreux FF et al. (2008) Eya4-deficient mice are a model for heritable otitis media. J Clin Invest, 118:651-8. (PubMed:18219393)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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