OTOA Gene Summary [Human]

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, Sep 2009]

Details

Type
Protein Coding
Official Symbol
OTOA
Official Name
otoancorin [Source:HGNC Symbol;Acc:HGNC:16378]
Ensembl ID
ENSG00000155719
Bio databases IDs NCBI: 146183 Ensembl: ENSG00000155719
Aliases otoancorin, cancer/testis antigen 108
Synonyms CT108, DFNB22, otoancorin, RGD1562741
Species
Human, Homo sapiens
OrthologiesMouseRat

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • major depression
  • autosomal recessive deafness type 22
  • autosomal recessive deafness
  • familial nonsyndromic hearing impairment
  • parasitosis
  • autosomal recessive deafness type 7
regulated by
role in cell
  • adhesion
  • transmission

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Plasma Membrane
  • apical membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human OTOA gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sensory perception of sound
  • cell-matrix adhesion
  • transmission of nerve impulse

Cellular Component

Where in the cell the gene product is active
  • extracellular region
  • plasma membrane
  • apical plasma membrane
  • cell surface

Gene-Specific Assays for Results You Can Trust

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