F5 (coagulation factor V)

2007-02-01  

Identity

HGNC
LOCATION
1q24.2
LOCUSID
ALIAS
FVL,PCCF,RPRGL1,THPH2
FUSION GENES

Other Information

Locus ID:

NCBI: 2153
MIM: 612309
HGNC: 3542
Ensembl: ENSG00000198734

Variants:

dbSNP: 2153
ClinVar: 2153
TCGA: ENSG00000198734
COSMIC: F5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198734ENST00000367796A0A0A0MRJ7
ENSG00000198734ENST00000367797P12259

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA131548935drotrecogin alfaChemicalVipGeneassociated15118525
PA165290929ethinyl estradiol / norelgestrominChemicalLabelAnnotationassociated
PA165958360rivaroxabanChemicalLabelAnnotationassociated
PA165981594eltrombopagChemicalLabelAnnotationassociated
PA166153554rs6025VariantVipGeneassociated10073976, 10194434, 10195931, 10666427, 10702702, 10936863, 10943572, 11127850, 11259157, 11406725, 11529695, 11532625, 11703344, 11886391, 11958494, 12008938, 12067913, 12069454, 12138364, 12368166, 12869355, 12869495, 12877676, 12881304, 14512389, 14551147, 14574075, 14660985, 14976057, 14996674, 15118524, 15118525, 15257017, 15467059, 15534175, 15947254, 16113779, 16173967, 16301339, 16359508, 16444434, 16503463, 16595080, 16606808, 16651467, 16818854, 7475606, 7657663, 7876154, 7877648, 7888671, 7968118, 7989361, 8553401, 8581514, 8815575, 9108400, 9109469, 9157591, 9271712, 9382368, 9415695, 9459317, 9531249, 10073951
PA166179849avatrombopagChemicalLabelAnnotationassociated
PA166182748lusutrombopagChemicalLabelAnnotationassociated
PA445850ThrombosisDiseaseClinicalAnnotation, Literature, MultilinkAnnotation, VipGeneassociatedPD10666427, 10702702, 11406725, 12877676, 14574075, 14660985, 15534175, 15947254, 16503463, 7877648, 8553401, 8581514, 9108400, 9531249, 10195931, 12069454, 15208046, 15946211, 16769590, 24949630, 7968118
PA446771SepsisDiseaseVipGeneassociated16444434, 15118525
PA447298venous thromboembolismDiseaseVipGeneassociated10073976, 10194434, 10195931, 10666427, 10702702, 10936863, 10943572, 11127850, 11259157, 11406725, 11529695, 11532625, 11703344, 11886391, 11958494, 12008938, 12067913, 12069454, 12138364, 12368166, 12869355, 12869495, 12877676, 12881304, 14512389, 14551147, 14574075, 14660985, 14976057, 14996674, 15118524, 15118525, 15257017, 15467059, 15534175, 15947254, 16113779, 16173967, 16301339, 16359508, 16444434, 16503463, 16595080, 16606808, 16651467, 16818854, 7475606, 7657663, 7876154, 7877648, 7888671, 7968118, 7989361, 8553401, 8581514, 8815575, 9108400, 9109469, 9157591, 9271712, 9382368, 9415695, 9459317, 9531249, 10073951
PA449509estrogensChemicalVipGeneassociated10943572, 11532625, 11703344, 11859850, 12067913, 12069454, 12138364, 12869355, 14551147, 15467059, 16113779, 16301339, 7968118, 9459317, 10073976
PA451581tamoxifenChemicalLabelAnnotation, VipGeneassociated16818854, 14512389
PA452637hormonal contraceptives for systemic useChemicalClinicalAnnotation, GuidelineAnnotation, VipGeneassociatedPD10943572, 11532625, 11859850, 12069454, 12138364, 12869355, 14551147, 15467059, 16113779, 16301339, 7968118, 9459317, 10073976, 12069454, 15208046, 15946211, 16769590, 7968118

References

Pubmed IDYearTitleCitations
192789552009Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.88
192789552009Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
155341752004Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls.78
203512332010Risk assessment of recurrence in patients with unprovoked deep vein thrombosis or pulmonary embolism: the Vienna prediction model.70
127174342003Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.69
192100382009Genetic and vascular modifiers of age-sensitive cognitive skills: effects of COMT, BDNF, ApoE, and hypertension.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163018602005Genetic variation associated with preterm birth: a HuGE review.60
172846992007Association of genetic variations with nonfatal venous thrombosis in postmenopausal women.58

Citation

Dessen P

F5 (coagulation factor V)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45563/f5