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P2RY12

Chr 3q25.1

purinergic receptor P2Y12

Aliases:
P2Y12, SP1999, HORK3
MANE:
ENST00000302632.4

Annotations refreshed 1 month 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

Disease associations (Open Targets)

  • platelet-type bleeding disorder 8

    0.71
  • P2Y12 defect

    0.67
  • myocardial infarction

    0.62
  • acute coronary syndrome

    0.61
  • Stroke

    0.61
  • coronary artery disorder

    0.60
  • peripheral vascular disease

    0.60
  • stroke disorder

    0.59
  • peripheral arterial disease

    0.56
  • angina unstable

    0.56

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

Protein function (UniProt)

P2Y purinoceptor 12

Receptor for ADP and ATP coupled to G proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation

Curated MONDO disease pages that list P2RY12 among their top associated genes.

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.