Annotated PGx Gene Information for F5
Submitted by: Jennifer Bushwitz, Michael A. Pacanowski, and Julie A. Johnson (PEAR)
Reviewed by: Under Review
Submitted date: October 11, 2006
- Jump To:
- Important Variants
- All Annotated Genes
| Gene HGNC Name: | F5 |
|---|---|
| Gene Common Name: | coagulation factor V, proaccelerin, labile factor |
| Introductory Information: | Factor V is an essential coagulation cofactor that enhances thrombin activation by factor Xa. In 1987, Jenny et al. determined the primary structure of the factor V gene, F5, by cloning from a human fetal liver cDNA library. Riddell et al. and Wang et al. mapped the gene to chromosome 1q23. F5 is 72,313 bp with a 6,672 bp coding region consisting of 25 exons. Factor V is a 330 kDa single chain glycoprotein comprised of 2,224 amino acid residues. [PMID: 3220473, 3110773, 11950687, 7989361, 2827731] A total of 433 validated polymorphisms are described in the dbSNP database; 40 of these are in the coding region and 22 result in an amino acid change. Based on SeattleSNPsdata, 181 SNPs have an allele frequency greater than 5% and of the 31 common coding polymorphisms, 18 are nonsynonymous. The most commonly studied variant in F5 is the 1691G>A substitution (Arg506Gln; the nucleotide position relative to start of sequence for F5 published by Jenny et al. PMID:3110773, which is also known as Factor V Leiden (FVL). FVL prevents deactivation of coagulation factor V by activated protein C. [PMID: 8164741] Venous thromboembolism (VTE) is the most well-studied phenotype associated with FVL. The risk of VTE is greater among individuals with FVL, particularly among smokers and women using oral contraceptives or estrogen hormone replacement therapy. The relationship with arterial thrombosis is less clear. FVL has also been implicated as a risk factor for small bowel infarction, mortality in sepsis, restensosis, Budd-Chiari syndrome, obstetric complications such as VTE, preeclampsia, abruptio placentae, fetal growth retardation, and late fetal loss, ischemic stroke and porencephaly. Numerous variations in F5 have been associated with states of thrombophilia or parahemophilia, however few have been extensively studied. [PMID: 16113779, 14574075, 16651467, 11859850, 12069454, 7877648, 9207293, 9245936, 9878639, 10666427, 11435304, 12070000, 16606808, 15534175, 14660985, 15118525] |
| Key PubMed IDs: | 16113779, 11859850, 3220473, 3110773, 11950687, 7989361, 12368166, 12069454, 7877648, 9207293, 9245936, 9878639, 10666427, 11435304, 14617013, 8164741, 12070000, 16606808, 15534175, 14660985, 15118525, 14574075 |
| Drugs/Substrates: | Oral contraceptives: 12069454, 11859850, 16301339, 16113779, 15467059, 14551147, 12869355, 12138364, 7968118, 9459317, 10943572, 10073976, 11532625 Estrogens: 12069454, 11859850, 16301339, 16113779, 15467059, 14551147, 12869355, 12138364, 11703344, 7968118, 9459317, 10943572, 10073976, 11532625, 12067913, 11886391 Tamoxifen: 14512389, 16818854 Drotrecogin alfa: 15118525 |
| Phenotypes/Diseases: | Venous thromboembolism: 16651467, 9382368, 7877648, 11529695, 7888671, 10073951, 14996674, 12368166, 16606808, 12069454, 10666427 Thrombosis (arterial): 9531249, 8553401, 8581514, 10195931, 10702702, 11406725, 16503463, 7877648, 10666427, 15534175, 14660985, 15947254, 12877676, 9108400, 14574075 Sepsis: 15118525, 16444434 |
| Important Variants: | Factor 5 Leiden |