F5 coagulation factor V
Gene ID: 2153, updated on 23-Mar-2024Gene type: protein coding
Also known as: FVL; PCCF; THPH2; RPRGL1
- See all available tests in GTR for this gene
- Go to complete Gene record for F5
- Go to Variation Viewer for F5 variants
Summary
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. GeneReviews: Not available | |
| A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. GeneReviews: Not available | |
| A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. GeneReviews: Not available | |
| Budd-Chiari syndrome | See labs |
| Congenital factor V deficiency | See labs |
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genetic predictors of fibrin D-dimer levels in healthy adults. GeneReviews: Not available | |
| Genetics of venous thrombosis: insights from a new genome wide association study. GeneReviews: Not available | |
| Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. GeneReviews: Not available | |
| Ischemic stroke | See labs |
| Multiple loci influencing hippocampal degeneration identified by genome scan. GeneReviews: Not available | |
| Pregnancy loss, recurrent, susceptibility to, 1 | See labs |
| Thrombophilia due to activated protein C resistance | See labs |
Genomic context
- Location:
- 1q24.2
- Sequence:
- Chromosome: 1; NC_000001.11 (169511951..169586481, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for F5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- F5 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.