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PROS1

Chr 3q11.1

protein S

MANE:
ENST00000394236.9

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

Disease associations (Open Targets)

  • thrombophilia due to protein S deficiency, autosomal dominant

    0.82
  • hereditary thrombophilia due to congenital protein S deficiency

    0.75
  • protein S deficiency

    0.70
  • thrombophilia due to protein S deficiency, autosomal recessive

    0.69
  • venous thromboembolism

    0.68
  • pulmonary embolism

    0.66
  • deep vein thrombosis

    0.61
  • Thromboembolism

    0.57
  • heart disorder

    0.52
  • dengue disease

    0.51

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

Protein function (UniProt)

Vitamin K-dependent protein S

Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis

Curated MONDO disease pages that list PROS1 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.