Gene: F7

Alternate names for this Gene: SPCA

Gene Summary: This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: coagulation factor VII

Type of Gene: protein-coding

rs36209567 in F7 gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs488703 in F7 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs6041 in F7 gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs1215224419 in F7 gene and Factor VII Deficiency PMID 12472587 2002 Two double heterozygous mutations in the F7 gene show different manifestations.

PMID 11091194 2000 Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.

PMID 7981691 1994 Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

PMID 8043443 1994 Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

PMID 8652821 1996 A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

PMID 9414278 1998 Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.

PMID 14717781 2004 A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency.

PMID 19751712 2009 Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.

PMID 2070047 1991 Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.

PMID 21206266 2011 Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

PMID 8242057 1993 Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

PMID 11129332 2000 Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

PMID 8364544 1993 A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene.

PMID 18976247 2009 Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

PMID 19432927 2009 Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.

PMID 8844208 1996 Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

PMID 8883260 1996 Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.

PMID 9452082 1998 Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.

PMID 8940045 1996 Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity.

PMID 9576180 1998 Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.

PMID 12903033 2003 [Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].

PMID 18282149 2008 The paradoxical association between inherited factor VII deficiency and venous thrombosis.

PMID 25828579 2015 The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.

PMID 20958793 2011 Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).

PMID 21902896 2011 Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes.

PMID 20040857 2010 Asymptomatic factor VII deficiency: gene analysis and structure-function relationships.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 25952977 2015 Long-term prophylaxis in severe factor VII deficiency.

PMID 15142120 2004 Prophylactic effect of recombinant factor VIIa in factor VII deficient patients.

PMID 12935978 2003 Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications.

PMID 25582404 2015 Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

PMID 15735798 2005 Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.

PMID 11931672 2002 A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates.

PMID 15456489 2004 Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.

PMID 22180436 2012 Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

PMID 10862079 2000 Twenty two novel mutations of the factor VII gene in factor VII deficiency.

PMID 9716592 1998 Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.

PMID 26852649 2016 Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male.

rs488703 in F7 gene and Factor VII measurement PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

PMID 17903294 2007 In association analysis, the lowest GEE p-value for hemostatic factors was p = 4.5*10(-16) for factor VII at SNP rs561241, a variant located near the F7 gene and in complete linkage disequilibrium (LD) (r2 = 1) with the Arg353Gln F7 SNP previously shown to account for 9% of total phenotypic variance.

PMID 30642921 2019 A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

rs3093267 in F7 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3093267 in F7 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs561241 in F7 gene and Prothrombin time assay PMID 22703881 2012 For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10(-56)) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10(-13)).

rs3093267 in F7 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3093267 in F7 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3093267 in F7 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3093267 in F7 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs201504247 in F7 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.