TFPI
tissue factor pathway inhibitor
Summary
This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5940 | 2:188,331,704 | C/T | missense variant | — |
| rs777849485 | 2:188,331,717 | T/G | — | uncertain significance |
| rs770894195 | 2:188,331,724 | C/G | — | uncertain significance |
| rs1691750355 | 2:188,331,764 | T/C | — | uncertain significance |
| rs760844343 | 2:188,332,560 | C/T | — | uncertain significance |
| rs764350848 | 2:188,332,572 | A/G | — | uncertain significance |
| rs746176720 | 2:188,332,651 | C/T | — | uncertain significance |
| rs8176592 | 2:188,332,692 | A/G | intron variant | — |
| rs4140885 | 2:188,333,064 | G/A | regulatory region variant | — |
| rs7586970 | 2:188,343,497 | T/C | intron variant | — |
| rs3213740 | 2:188,348,843 | A/G | — | benign |
| rs145362964 | 2:188,349,633 | G/T | — | benign |
| rs8176501 | 2:188,353,663 | T/G | intron variant | — |
| rs8176450 | 2:188,361,598 | A/G | — | benign |
| rs760791091 | 2:188,361,787 | A/G | — | uncertain significance |
| rs10172935 | 2:188,373,433 | C/T | intron variant | — |
| rs2349653 | 2:188,375,793 | G/C | — | — |
| rs35612915 | 2:188,379,320 | G/T | — | — |
| rs115490072 | 2:188,416,659 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.