F5 (coagulation factor V)

2007-02-01  

Identity

HGNC
F5
LOCATION
1q24.2
LOCUSID
2153
ALIAS
FVL,PCCF,RPRGL1,THPH2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
376397402024Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).0
381121282024Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.0
382251662024Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.0
376397402024Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).0
381121282024Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.0
382251662024Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.0
339933122023Stroke in Young Military Men With Heterozygous for MTHFR Gene Mutation or Factor V Leiden Gene Mutation Associated With Patent Foramen Ovale: Report of Two Cases and Therapeutic Strategy.1
359464682023Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.0
361650802023Patients with severe coronavirus disease 2019 have high frequency of factor 5 Leiden and prothrombin gene mutations.1
367803442023Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.2
369463172023IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.0
370535082023Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.0
371506822023[The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].1
373212562023Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.0
339933122023Stroke in Young Military Men With Heterozygous for MTHFR Gene Mutation or Factor V Leiden Gene Mutation Associated With Patent Foramen Ovale: Report of Two Cases and Therapeutic Strategy.1

Citation

Dessen P

F5 (coagulation factor V)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45563/f5-(coagulation-factor-v)