F5 (coagulation factor V)

2007-02-01 Affiliation

Identity

HGNC

LOCATION

1q24.2

LOCUSID

2153

ALIAS

FVL,PCCF,RPRGL1,THPH2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198734	ENST00000367796	A0A0A0MRJ7
ENSG00000198734	ENST00000367797	P12259

Expression (GTEx)

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

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Complement and coagulation cascades	KEGG	hsa04610
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle Transport	REACTOME	R-HSA-204005
Hemostasis	REACTOME	R-HSA-109582
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Response to elevated platelet cytosolic Ca2+	REACTOME	R-HSA-76005
Platelet degranulation	REACTOME	R-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)	REACTOME	R-HSA-140877
Common Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140875
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Cargo concentration in the ER	REACTOME	R-HSA-5694530

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA131548935	drotrecogin alfa	Chemical	VipGene	associated		15118525
PA165290929	ethinyl estradiol / norelgestromin	Chemical	LabelAnnotation	associated
PA165958360	rivaroxaban	Chemical	LabelAnnotation	associated
PA165981594	eltrombopag	Chemical	LabelAnnotation	associated
PA166153554	rs6025	Variant	VipGene	associated		10073976, 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
PA166179849	avatrombopag	Chemical	LabelAnnotation	associated
PA166182748	lusutrombopag	Chemical	LabelAnnotation	associated
PA445850	Thrombosis	Disease	ClinicalAnnotation, Literature, MultilinkAnnotation, VipGene	associated	PD	10666427, 10702702, 11406725, 12877676, 14574075, 14660985, 15534175, 15947254, 16503463, 7877648, 8553401, 8581514, 9108400, 9531249, 10195931, 12069454, 15208046, 15946211, 16769590, 24949630, 7968118
PA446771	Sepsis	Disease	VipGene	associated		16444434, 15118525
PA447298	venous thromboembolism	Disease	VipGene	associated		10073976, 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
PA449509	estrogens	Chemical	VipGene	associated		10943572, 11532625, 11703344, 11859850, 12067913, 12069454, 12138364, 12869355, 14551147, 15467059, 16113779, 16301339, 7968118, 9459317, 10073976
PA451581	tamoxifen	Chemical	LabelAnnotation, VipGene	associated		16818854, 14512389
PA452637	hormonal contraceptives for systemic use	Chemical	ClinicalAnnotation, GuidelineAnnotation, VipGene	associated	PD	10943572, 11532625, 11859850, 12069454, 12138364, 12869355, 14551147, 15467059, 16113779, 16301339, 7968118, 9459317, 10073976, 12069454, 15208046, 15946211, 16769590, 7968118

References

Pubmed ID	Year	Title	Citations
37639740	2024	Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).	0
38112128	2024	Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.	0
38225166	2024	Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.	0
37639740	2024	Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).	0
38112128	2024	Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation.	0
38225166	2024	Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation.	0
33993312	2023	Stroke 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
35946468	2023	Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.	0
36165080	2023	Patients with severe coronavirus disease 2019 have high frequency of factor 5 Leiden and prothrombin gene mutations.	1
36780344	2023	Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.	2
36946317	2023	IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.	0
37053508	2023	Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.	0
37150682	2023	[The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].	1
37321256	2023	Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.	0
33993312	2023	Stroke 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/favicon/manifest.json