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GenoLensGenoLens

GP9

Chr 3q21.3

glycoprotein IX platelet

Aliases:
CD42a, GPIX
MANE:
ENST00000307395.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Bernard-Soulier syndrome

    0.82
  • Macrothrombocytopenia

    0.46
  • Brooke-Spiegler syndrome

    0.37
  • Barber-Say syndrome

    0.37
  • Thrombocytopenia

    0.31
  • hereditary disease

    0.19
  • gastrointestinal disease

    0.12
  • autosomal dominant macrothrombocytopenia

    0.07
  • acute megakaryoblastic leukemia

    0.06
  • hereditary thrombocytopenia with normal platelets

    0.06

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

Protein function (UniProt)

Platelet glycoprotein IX

The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib

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.