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F5

Chr 1q24.2

coagulation factor V

Aliases:
fV
MANE:
ENST00000367797.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Factor V deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Thrombophilia with a likely monogenic cause

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Intellectual disability

Disease associations (Open Targets)

  • thrombophilia due to activated protein C resistance

    0.80
  • congenital factor V deficiency

    0.78
  • factor V deficiency

    0.77
  • ischemic stroke

    0.66
  • Venous thrombosis

    0.59
  • venous thromboembolism

    0.56
  • pulmonary embolism

    0.55
  • deep vein thrombosis

    0.55
  • Sepsis

    0.55
  • Thromboembolism

    0.53

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

Protein function (UniProt)

Coagulation factor V

Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin

Curated MONDO disease pages that list F5 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.