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OTOA

Chr 16p12.2

otoancorin

Aliases:
CT108
MANE:
ENST00000646100.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.70
  • Rare genetic deafness

    0.53
  • deafness

    0.45
  • Non-syndromic genetic deafness

    0.39
  • hearing loss disorder

    0.37
  • nonsyndromic genetic hearing loss

    0.37
  • autosomal recessive nonsyndromic hearing loss 7

    0.30
  • autosomal recessive nonsyndromic hearing loss 1A

    0.28
  • major depressive disorder

    0.24
  • dysthymic disorder

    0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Otoancorin

May act as an adhesion molecule

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.