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GPC6

Chr 13q31.3-q32.1

glypican 6

MANE:
ENST00000377047.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • autosomal recessive omodysplasia

    0.74
  • omodysplasia

    0.64
  • COVID-19

    0.54
  • dengue disease

    0.46
  • smoking initiation

    0.41
  • insomnia

    0.40
  • refractive error

    0.40
  • Abnormality of the skeletal system

    0.37
  • alcohol drinking

    0.37
  • primary angle-closure glaucoma

    0.33

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

Protein function (UniProt)

Glypican-6

Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling

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.