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PROC

Chr 2q14.3

protein C, inactivator of coagulation factors Va and VIIIa

MANE:
ENST00000234071.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Inherited bleeding disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Thrombophilia with a likely monogenic cause

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hereditary thrombophilia due to congenital protein C deficiency

    0.85
  • venous thromboembolism

    0.74
  • deep vein thrombosis

    0.71
  • thrombophilia due to protein C deficiency, autosomal dominant

    0.70
  • protein c deficiency

    0.69
  • thrombophilia due to protein C deficiency, autosomal recessive

    0.69
  • phlebitis

    0.65
  • Thrombophlebitis

    0.65
  • Abnormal thrombosis

    0.63
  • thrombophilia

    0.60

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

Protein function (UniProt)

Vitamin K-dependent protein C

Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265, PubMed:39880037). Exerts a protective effect on the endothelial cell barrier function (PubMed:25651845)

Curated MONDO disease pages that list PROC 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.