OTOA
Chr 16ARotoancorin
Also known as: CT108, DFNB22
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OTOA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools