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GenoLensGenoLens

F8

Chr Xq28

coagulation factor VIII

Aliases:
FVIII, DXS1253E, HEMA
MANE:
ENST00000360256.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Factor VIII deficiency

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Inherited bleeding disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • hemophilia A

    0.91
  • hemophilia

    0.74
  • hemophilia B

    0.69
  • thrombophilia, X-linked, due to factor 8 defect

    0.66
  • hemorrhage

    0.58
  • immune system disorder

    0.57
  • Sepsis

    0.55
  • severe hemophilia A

    0.55
  • mild hemophilia A

    0.52
  • Abnormality of coagulation

    0.49

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

Protein function (UniProt)

Coagulation factor VIII

Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa

Curated MONDO disease pages that list F8 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.