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Description for Protein OTOA

otoancorin
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found 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:
DFNB22; FLJ32773; Otoancorin isoform 1; Otoancorin isoform 2
Approved Symbol:
OTOA
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; 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:

  • Deafness, autosomal recessive 22(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06126 Entrez Gene ID: 146183 OMIM ID: 607038 Swissprot Accession: Q7RTW8; Q05BM7; B3KWU3;