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GenoLensGenoLens

CNPY3

Chr 6p21.1

canopy FGF signaling regulator 3

Aliases:
CAG4A
MANE:
ENST00000372836.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • genetic developmental and epileptic encephalopathy

    0.68
  • infantile spasms

    0.37
  • hypertension, pregnancy-induced

    0.23
  • neoplasm

    0.10
  • breast carcinoma

    0.07
  • breast cancer

    0.07
  • cancer

    0.07
  • smoking initiation

    0.04
  • colon adenocarcinoma

    0.04
  • central nervous system cancer

    0.04

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

Protein function (UniProt)

Protein canopy homolog 3

Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity)

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.