TFPI (Tissue Factor Pathway Inhibitor) Gene
Key regulator of coagulation and potential therapeutic target in thrombosis and cancer
Gene Information Card
| Symbol | TFPI |
|---|---|
| Full Name | Tissue Factor Pathway Inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 7035 ncbi.nlm.nih.gov/gene/7035 |
| Ensembl ID | ENSG00000003436 |
| UniProt ID | P10646 |
| OMIM ID | 152310 |
| HGNC ID | 11760 |
| Aliases | EPI, LACI, TFI, TFPI1 |
Description
The TFPI gene encodes tissue factor pathway inhibitor, a serine protease inhibitor that regulates the extrinsic coagulation pathway by directly inhibiting factor Xa and, in a Xa-dependent manner, inhibiting the tissue factor/factor VIIa complex. TFPI is primarily synthesized by endothelial cells and is a major natural anticoagulant.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombophilia | Loss of TFPI function reduces anticoagulant activity, predisposing to venous thromboembolism. | ClinVar, PMID: 10772814 |
| Hemophilia A | TFPI inhibition of FXa and TF-FVIIa exacerbates bleeding; anti-TFPI therapies (e.g., concizumab) are used to restore hemostasis. | ClinVar, PMID: 31064749 |
| Cancer-associated thrombosis | Altered TFPI expression in tumors contributes to hypercoagulable state. | COSMIC, PMID: 25673694 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Heart | 6.2 | Low |
| Kidney | 8.1 | Medium |
| Placenta | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.4 | High expression |
| HepG2 (hepatocellular) | 11.2 | Moderate expression |
| A549 (lung carcinoma) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192Cys) | Missense | Rare | Reduced anticoagulant activity; associated with thrombosis |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; loss of function |
| c.1048G>A (p.Gly350Arg) | Missense | Rare | Impaired FXa inhibition |
Mutation functional classification
Loss of Function (LOF)
Mutations reducing TFPI activity (e.g., p.Arg192Cys) increase thrombosis risk.
Gain of Function (GOF)
Not well documented; gain-of-function variants are rare and may reduce bleeding.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • heparin binding |
| • extracellular space | • blood coagulation |
| • negative regulation of coagulation |
Pathways
• Tissue factor activation (KEGG: hsa04610)
• Complement and coagulation cascades (KEGG: hsa04610)
• Hemostasis (Reactome: R-HSA-109582)
Protein Summary
TFPI is a 276-amino-acid Kunitz-type serine protease inhibitor with three Kunitz domains. The first domain inhibits TF-FVIIa, the second inhibits FXa, and the third binds heparin. It is a key negative regulator of the extrinsic coagulation pathway and is expressed on endothelial surfaces and in plasma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFPI2 Knockout HEK293 Cell Line | EDJ-KQ6152 | Human | 7980 | Details Get a Quote |
| TFPI Knockout HEK293 Cell Line | EDJ-KQ12143 | Human | 7035 | Details Get a Quote |
| TFPI2 Knockout HeLa Cell Line | EDJ-KQ29958 | Human | 7980 | Details Get a Quote |
| TFPI2 Knockout A-549 Cell Line | EDJ-KQ28646 | Human | 7980 | Details Get a Quote |
| TFPI Knockout A-549 Cell Line | EDJ-KQ39585 | Human | 7035 | Details Get a Quote |
| TFPI Knockout HCT 116 Cell Line | EDJ-KQ40835 | Human | 7035 | Details Get a Quote |
| TFPI Knockout HeLa Cell Line | EDJ-KQ40836 | Human | 7035 | Details Get a Quote |
| TFPI2 Knockout HCT 116 Cell Line | EDJ-KQ71769 | Human | 7980 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
