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TFPI

Chr 2q32.1

tissue factor pathway inhibitor

Aliases:
EPI, TFI, TFPI1
MANE:
ENST00000233156.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Thrombophilia with a likely monogenic cause

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Inherited bleeding disorders

Disease associations (Open Targets)

  • hemophilia B

    0.53
  • hemorrhage

    0.53
  • hemophilia

    0.51
  • hemophilia A

    0.46
  • neurodegenerative disease

    0.37
  • hemorrhagic disease

    0.36
  • myocardial infarction

    0.32
  • Alzheimer disease

    0.32
  • multiple sclerosis

    0.32
  • Parkinson disease

    0.32

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

Protein function (UniProt)

Tissue factor pathway inhibitor

Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma

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.