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GPC4

Chr Xq26.2

glypican 4

Aliases:
K-glypican
MANE:
ENST00000370828.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • Keipert syndrome

    0.74
  • COVID-19

    0.54
  • dengue disease

    0.46
  • neurodegenerative disease

    0.37
  • Distal shortening of limbs

    0.27
  • craniosynostosis

    0.26
  • hereditary disease

    0.19
  • Alzheimer disease

    0.10
  • polycystic ovary syndrome

    0.09
  • Blackfan-Diamond anemia

    0.08

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

Protein function (UniProt)

Glypican-4

Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (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.