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GenoLensGenoLens

GP6

Chr 19q13.42

glycoprotein VI platelet

Aliases:
GPVI
MANE:
ENST00000417454.5

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
  • Autoinflammatory disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • platelet-type bleeding disorder 11

    0.72
  • Bleeding diathesis due to glycoprotein VI deficiency

    0.64
  • venous thromboembolism

    0.49
  • Thromboembolism

    0.44
  • platelet aggregation

    0.43
  • deep vein thrombosis

    0.37
  • stroke disorder

    0.25
  • hereditary disease

    0.19
  • brain infarction

    0.19
  • Abnormal bleeding

    0.15

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

Protein function (UniProt)

Platelet glycoprotein VI

Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2

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.