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CLDN14

Chr 21q22.13

claudin 14

MANE:
ENST00000399135.6

Annotations refreshed 1 month 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
  • deafness

    0.54
  • nephrolithiasis

    0.50
  • gout

    0.45
  • vein of Galen aneurysm

    0.45
  • Hearing impairment

    0.44
  • ureterolithiasis

    0.43
  • urolithiasis

    0.43
  • bladder calculus

    0.41
  • nonsyndromic genetic hearing loss

    0.40

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

Protein function (UniProt)

Claudin-14

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity

Curated MONDO disease pages that list CLDN14 among their top associated genes.

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.