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CLDN14

Chr 21q22.13

claudin 14

MANE:
ENST00000399135.6
OMIM: 605608 ↗NCBI: 23562 ↗Ensembl ↗

Annotations refreshed 2 months 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

Diseases associated with CLDN14

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.