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CEACAM16

Chr 19q13.31-q13.32

CEA cell adhesion molecule 16, tectorial membrane component

Aliases:
DFNA4B
MANE:
ENST00000587331.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.61
  • autosomal dominant nonsyndromic hearing loss

    0.60
  • nonsyndromic genetic hearing loss

    0.52
  • Non-syndromic genetic deafness

    0.43
  • Sensorineural hearing impairment

    0.40
  • deafness

    0.37
  • hearing loss disorder

    0.34
  • Abnormality of the ear

    0.28
  • Rare genetic deafness

    0.28
  • ear malformation

    0.27

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

Protein function (UniProt)

Cell adhesion molecule CEACAM16

Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane

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.