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CLRN2

Chr 4p15.32

clarin 2

Aliases:
DFNB117
MANE:
ENST00000511148.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive 117

    0.52
  • hearing loss disorder

    0.51
  • presbycusis

    0.47
  • Non-syndromic genetic deafness

    0.20
  • nonsyndromic genetic hearing loss

    0.18
  • Anisometropia

    0.18
  • alcohol drinking

    0.18
  • hypertensive disorder

    0.18
  • urolithiasis

    0.18
  • cervical carcinoma

    0.11

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

Protein function (UniProt)

Clarin-2

Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction

Curated MONDO disease pages that list CLRN2 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.