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CLDN9

Chr 16p13.3

claudin 9

MANE:
ENST00000445369.3
OMIM: 615799 ↗NCBI: 9080 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • hearing loss, autosomal recessive 116

    0.66

  • hearing loss disorder

    0.27

  • Pendred syndrome

    0.13

  • nonsyndromic genetic hearing loss

    0.12

  • Hearing impairment

    0.12

  • deafness

    0.08

  • gastric cancer

    0.08

  • hearing loss, autosomal recessive

    0.08

  • cancer

    0.08

  • autosomal dominant nonsyndromic hearing loss

    0.08

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

Protein function (UniProt)

Claudin-9

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

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.