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GIPC3

Chr 19p13.3

GIPC PDZ domain containing family member 3

Aliases:
DFNB95
MANE:
ENST00000644452.3
OMIM: 608792 ↗NCBI: 126326 ↗Ensembl ↗

Annotations refreshed 9 hours 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

    0.68

  • deafness

    0.64

  • Rare genetic deafness

    0.48

  • nonsyndromic genetic hearing loss

    0.40

  • Non-syndromic genetic deafness

    0.38

  • hearing loss disorder

    0.38

  • Sensorineural hearing impairment

    0.26

  • hereditary disease

    0.19

  • Hearing impairment

    0.17

  • arthropathy

    0.10

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

Protein function (UniProt)

PDZ domain-containing protein GIPC3

Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion

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.