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GenoLensGenoLens

OTOG

Chr 11p15.1

otogelin

Aliases:
mlemp, OTGN, FLJ46346
MANE:
ENST00000399397.6

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

    0.71
  • Rare genetic deafness

    0.53
  • deafness

    0.46
  • Hearing impairment

    0.44
  • nonsyndromic genetic hearing loss

    0.44
  • Non-syndromic genetic deafness

    0.39
  • Meniere disease

    0.38
  • Vertigo

    0.34
  • central nervous system origin vertigo

    0.33
  • peripheral vertigo

    0.33

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

Protein function (UniProt)

Otogelin

Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity)

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.