F5 Gene - Coagulation Factor V
Essential regulator of blood coagulation and thrombosis risk
Gene Information Card
| Symbol | F5 |
|---|---|
| Full Name | Coagulation Factor V |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 2153 ncbi.nlm.nih.gov/gene/2153 |
| Ensembl ID | ENSG00000198734 |
| UniProt ID | P12259 |
| OMIM ID | 612309 |
| HGNC ID | 3542 |
| Aliases | FVL, PCCF, RPRGL1, THPH2 |
Description
The F5 gene encodes coagulation factor V, a critical glycoprotein in the blood coagulation cascade. Factor V circulates as an inactive procofactor and is activated by thrombin or factor Xa to form factor Va, which acts as a cofactor for the prothrombinase complex, accelerating the conversion of prothrombin to thrombin. Mutations in F5, particularly the factor V Leiden variant (p.Arg534Gln), cause activated protein C resistance and increase the risk of venous thromboembolism. Loss-of-function mutations lead to factor V deficiency (parahemophilia), a rare bleeding disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Factor V Deficiency (Parahemophilia) | Loss-of-function mutations reduce factor V activity, impairing thrombin generation and causing bleeding tendency. | OMIM #227400 |
| Factor V Leiden Thrombophilia | Gain-of-function mutation (p.Arg534Gln) renders factor Va resistant to inactivation by activated protein C, increasing thrombosis risk. | OMIM #188055 |
| Thrombophilia, Hereditary, Due to Factor V Leiden | Same mechanism as above; autosomal dominant inheritance with incomplete penetrance. | ClinVar, OMIM #188055 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Platelets | 8.2 | Medium |
| Lung | 3.1 | Low |
| Heart | 1.8 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line; high expression |
| THP-1 | 2.3 | Monocytic cell line; low expression |
| A549 | 1.1 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1601G>A (p.Arg534Gln) | Missense | 5-15% in Caucasians | Factor V Leiden; gain-of-function; APC resistance |
| c.1691G>A (p.Arg534Gln) | Missense | 5-15% in Caucasians | Same as above; legacy nomenclature |
| c.1250delT (p.Leu417fs) | Frameshift | Rare | Loss-of-function; factor V deficiency |
| c.2869C>T (p.Arg957*) | Nonsense | Rare | Loss-of-function; factor V deficiency |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and missense mutations that reduce or abolish factor V activity, leading to bleeding disorder (parahemophilia).
Gain of Function (GOF)
Factor V Leiden (p.Arg534Gln) confers resistance to activated protein C, increasing thrombin generation and thrombosis risk.
Dominant Negative (DN)
Not well documented; most loss-of-function mutations are recessive, while factor V Leiden is dominant with incomplete penetrance.
View complete mutation data：
Gene Ontology (GO)
| • blood coagulation (GO:0007596) | • calcium ion binding (GO:0005509) |
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) |
Pathways
• KEGG hsa04610 - Complement and coagulation cascades
• Reactome R-HSA-140877 - Formation of Fibrin Clot (Clotting Cascade)
• Reactome R-HSA-76009 - Platelet Aggregation (Plug Formation)
Protein Summary
Coagulation factor V is a large multidomain glycoprotein (2224 amino acids, ~330 kDa) synthesized primarily in the liver and stored in platelet alpha granules. It circulates as an inactive procofactor and is activated by limited proteolysis by thrombin or factor Xa. Activated factor Va binds to factor Xa on phospholipid surfaces to form the prothrombinase complex, which converts prothrombin to thrombin. Factor V is inactivated by activated protein C. The factor V Leiden variant (p.Arg534Gln) is the most common inherited thrombophilia in Caucasians.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFTR‐ΔF508 Overexpression HEK293 Stable Cell Line | EDJ-GQ79 | Human | Details Get a Quote | |
| F5 Knockout HEK293 Cell Line | EDJ-KQ3057 | Human | 2153 | Details Get a Quote |
| F5 Knockout HeLa Cell Line | EDJ-KQ53186 | Human | 2153 | Details Get a Quote |
| F5 Knockout A-549 Cell Line | EDJ-KQ61665 | Human | 2153 | Details Get a Quote |
| F5 Knockout HCT 116 Cell Line | EDJ-KQ70149 | Human | 2153 | Details Get a Quote |
