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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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F7
coagulation factor VII
Chromosome 13 Β· 13q34
NCBI Gene: 2155Ensembl: ENSG00000057593.14HGNC: HGNC:3544UniProt: B4DPM2
485PubMed Papers
21Diseases
5Drugs
91Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serine-type peptidase complexpositive regulation of leukocyte chemotaxisprotein bindingpositive regulation of platelet-derived growth factor receptor signaling pathwayfactor VII deficiencycongenital factor VII deficiencyhemophilia Bhemophilia A
✦AI Summary

Factor VII (F7) is a serine protease that initiates the extrinsic pathway of blood coagulation. It circulates as an inactive zymogen that is activated to factor VIIa by factor Xa, XIIa, IXa, or thrombin [PMID:271951]. In the presence of tissue factor and calcium ions, factor VIIa converts factor X to factor Xa and factor IX to factor IXa, propagating the coagulation cascade [PMID:271951]. Plasma FVII concentrations are quantitative traits influenced by both genetic variants and epigenetic modifications at the F7 promoter 12. F7 promoter polymorphisms, including the A2 allele and -402G>A substitution, modulate FVII levels through alterations in transcriptional activity and DNA methylation patterns 1. Congenital F7 deficiency is an autosomal recessive bleeding disorder characterized by weak genotype-phenotype correlation and variable clinical manifestations ranging from asymptomatic to severe bleeding 3. F7 genetic variants influence circulating FVII levels and coagulation activation markers, with haplotype-dependent effects on coronary heart disease risk 4. F7 has minimal influence on coumarin anticoagulant dose requirements compared to CYP2C9 and VKORC1 5. F7 genetic polymorphisms may also influence COVID-19 disease severity 6.

Sources cited
1
Factor VII activation mechanisms and conversion of factors X and IX in presence of tissue factor and calcium
PMID: 271951
2
Congenital factor VII deficiency is autosomal recessive with variable clinical manifestations and weak genotype-phenotype correlation
PMID: 35802509
3
F7 promoter methylation and polymorphisms regulate plasma FVII concentrations and influence coronary artery disease risk
PMID: 22315437
4
F7 gene polymorphisms including rare coding variants and regulatory variants influence plasma FVII levels as a quantitative trait
PMID: 16596941
5
F7 haplotypes influence FVII levels, coagulation activation markers, and coronary heart disease risk
PMID: 20735728
6
F7 has minor influence on coumarin anticoagulant dose requirements compared to CYP2C9 and VKORC1
PMID: 25345887
7
F7 genetic polymorphisms are associated with COVID-19 disease severity
PMID: 39497411
Disease Associationsβ“˜21
factor VII deficiencyOpen Targets
0.85Strong
congenital factor VII deficiencyOpen Targets
0.73Strong
hemophilia BOpen Targets
0.57Moderate
hemophilia AOpen Targets
0.57Moderate
hemophiliaOpen Targets
0.53Moderate
blood coagulation diseaseOpen Targets
0.45Moderate
Abnormality of coagulationOpen Targets
0.44Moderate
Abnormal bleedingOpen Targets
0.39Weak
Glanzmann thrombasthenia 1Open Targets
0.38Weak
glaucomaOpen Targets
0.35Weak
open-angle glaucomaOpen Targets
0.35Weak
intracerebral hemorrhageOpen Targets
0.35Weak
hemorrhagic diseaseOpen Targets
0.35Weak
coagulation protein diseaseOpen Targets
0.32Weak
response to xenobiotic stimulusOpen Targets
0.31Weak
venous thromboembolismOpen Targets
0.28Weak
acquired coagulation factor deficiencyOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
ThrombocytopeniaOpen Targets
0.11Weak
deep vein thrombosisOpen Targets
0.11Weak
Factor VII deficiencyUniProt
Pathogenic Variants91
NM_019616.4(F7):c.995C>T (p.Ala332Val)Pathogenic
Factor VII deficiency|Abnormal bleeding|not provided|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|F7-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 332
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)Pathogenic
not provided|Factor VII deficiency|Factor VII Padua|Congenital factor VII deficiency|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|F7-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 342
NM_019616.4(F7):c.568C>T (p.Arg190Ter)Pathogenic
Congenital factor VII deficiency|F7-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 190
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)Pathogenic
Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 440
NM_019616.4(F7):c.2T>C (p.Met1Thr)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_019616.4(F7):c.1325del (p.Pro442fs)Pathogenic
Factor VII deficiency|Congenital factor VII deficiency|F7-related disorder|Abnormal bleeding|not provided|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 442
NM_019616.4(F7):c.845C>T (p.Ala282Val)Pathogenic
Factor VII deficiency|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency|F7-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 282
NM_019616.4(F7):c.364+1G>APathogenic
Factor VII deficiency|not provided|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β˜…β˜…β˜†β˜†2025
NM_019616.4(F7):c.739+1G>APathogenic
not provided|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β˜…β˜…β˜†β˜†2025
NM_019616.4(F7):c.868G>A (p.Val290Met)Pathogenic
Congenital factor VII deficiency|not provided|Congenital factor VII deficiency;Myocardial infarction, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 290
NM_019616.4(F7):c.1219G>A (p.Ala407Thr)Likely pathogenic
Factor VII deficiency|F7-related disorder|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 407
NM_019616.4(F7):c.413A>G (p.Gln138Arg)Pathogenic
Myocardial infarction, susceptibility to;Congenital factor VII deficiency|F7-related disorder|Factor VII deficiency|Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 138
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)Likely pathogenic
Myocardial infarction, susceptibility to;Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 348
NM_019616.4(F7):c.517T>C (p.Cys173Arg)Pathogenic
Congenital factor VII deficiency|not provided|See cases|Congenital factor VII deficiency;Myocardial infarction, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 173
NM_019616.4(F7):c.64G>A (p.Val22Ile)Pathogenic
Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 22
NM_000131.4(F7):c.-55C>TPathogenic
Factor VII deficiency|Congenital factor VII deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_019616.4(F7):c.854G>A (p.Arg285His)Pathogenic
not provided|Factor VII deficiency|Congenital factor VII deficiency|F7-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 285
NM_019616.4(F7):c.400G>A (p.Gly134Ser)Likely pathogenic
not provided|Congenital factor VII deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 134
NM_019616.4(F7):c.580G>C (p.Gly194Arg)Likely pathogenic
Congenital factor VII deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 194
NM_019616.4(F7):c.724del (p.Asn241_Leu242insTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 241
View on ClinVar β†—
Drug Targets5
EPTACOG ALFA (ACTIVATED)Approved
Coagulation factor VII exogenous protein
factor VII deficiency
EPTACOG ALFA PEGOL (ACTIVATED)Phase II
Coagulation factor VII exogenous protein
EPTACOG BETA (ACTIVATED)Approved
Coagulation factor VII exogenous protein
hemophilia B
PCI-27483Phase II
Coagulation factor VII inhibitor
Malignant Pancreatic Neoplasm
PROTHROMBIN COMPLEX CONCENTRATEPhase III
Coagulation factor VII exogenous protein
acquired coagulation factor deficiency
Related Genes
F8Protein interaction100%F5Protein interaction98%F9Protein interaction98%GGCXProtein interaction97%THBDProtein interaction96%POGLUT1Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
F7F8F5F9GGCXTHBDPOGLUT1
PROTEIN STRUCTURE
Preparing viewer…
PDB5PAG Β· 1.36 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.65–1.11]
RankingsWhere F7 stands among ~20K protein-coding genes
  • #548of 20,598
    Most Researched485 Β· top 5%
  • #511of 1,025
    FDA-Approved Drug Targets2
  • #835of 5,498
    Most Pathogenic Variants91 Β· top quartile
  • #11,414of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedF7
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency.
PMID: 35802509
Blood Coagul Fibrinolysis Β· 2022
1.00
2
Establishment of gene-edited pigs expressing human blood-coagulation factor VII and albumin for bioartificial liver use.
PMID: 30884543
J Gastroenterol Hepatol Β· 2019
0.90
3
Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease.
PMID: 22315437
J Med Genet Β· 2012
0.80
4
The F7 gene and clotting factor VII levels: dissection of a human quantitative trait locus.
PMID: 16596941
Hum Biol Β· 2005
0.70
5
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.
PMID: 36951360
Br J Haematol Β· 2023
0.68