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GenoLensGenoLens

F9

Chr Xq27.1

coagulation factor IX

Aliases:
FIX
MANE:
ENST00000218099.7

Annotations refreshed 9 hours 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 IX 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 B

    0.89
  • hemophilia A

    0.76
  • thrombophilia, X-linked, due to factor 9 defect

    0.75
  • x-linked warfarin sensitivity

    0.69
  • hemorrhage

    0.58
  • venous thromboembolism

    0.52
  • hemophilia b leyden

    0.50
  • hemophilia

    0.47
  • Venous thrombosis

    0.47
  • cartilage disease

    0.46

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

Protein function (UniProt)

Coagulation factor IX

Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa (PubMed:8295821, PubMed:2592373, PubMed:20121197, PubMed:20121198, PubMed:1730085, PubMed:19846852, PubMed:39880037)

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.