F2 coagulation factor II, thrombin
Gene ID: 2147, updated on 7-Apr-2024Gene type: protein coding
Also known as: PT; THPH1; RPRGL2
- See all available tests in GTR for this gene
- Go to complete Gene record for F2
- Go to Variation Viewer for F2 variants
Summary
This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Congenital prothrombin deficiency | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Ischemic stroke | See labs |
| Pregnancy loss, recurrent, susceptibility to, 2 | See labs |
| Thrombophilia due to thrombin defect | See labs |
Genomic context
- Location:
- 11p11.2
- Sequence:
- Chromosome: 11; NC_000011.10 (46719213..46739506)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for F2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- F2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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