OTOA

Chr 16AR

otoancorin

Also known as: CT108, DFNB22

NCBI Gene: 146183 ENSG00000155719 UniProt: Q7RTW8 OMIM: 607038

The encoded protein functions as an adhesion molecule that attaches the acellular gels to the apical surface of inner ear sensory epithelia. Mutations cause autosomal recessive deafness type 22 (DFNB22), typically presenting as congenital or early-onset hearing loss. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern where heterozygous carriers are unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 22MIM #607039

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

LOF

Mechanism· G2P

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GeneReview available — OTOA