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GenoLensGenoLens

F7

Chr 13q34

coagulation factor VII

MANE:
ENST00000346342.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Factor VII deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Familial hypercholesterolaemia

Disease associations (Open Targets)

  • factor VII deficiency

    0.85
  • congenital factor VII deficiency

    0.78
  • hemophilia B

    0.55
  • hemophilia A

    0.55
  • blood coagulation disease

    0.50
  • Abnormality of coagulation

    0.44
  • Abnormal bleeding

    0.39
  • Glanzmann thrombasthenia

    0.38
  • coagulation protein disease

    0.37
  • intracerebral hemorrhage

    0.37

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

Protein function (UniProt)

Coagulation factor VII

Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa also converts factor IX to factor IXa in the presence of tissue factor and calcium (PubMed:271951)

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.