Gene: F9

Alternate names for this Gene: F9 p22|FIX|HEMB|P19|PTC|THPH8

Gene Summary: This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing.

Gene is located in Chromosome: X

Location in Chromosome : Xq27.1

Description of this Gene: coagulation factor IX

Type of Gene: protein-coding

rs137852247 in F9 gene and Abnormality of coagulation PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs137852228 in F9 gene and Hemophilia A PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1216516070 in F9 gene and Hemophilia B PMID 2372509 1990 A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

PMID 2162822 1990 Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

PMID 1958666 1991 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

PMID 1346975 1992 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

PMID 8680410 1995 Twenty-five novel mutations of the factor IX gene in haemophilia B.

PMID 9452115 1998 Five novel factor IX mutations in unrelated hemophilia B patients.

PMID 2775660 1989 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.

PMID 2773937 1989 Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

PMID 2472424 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

PMID 11122099 2000 Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

PMID 3401602 1988 Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.

PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

PMID 9600455 1998 Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.

PMID 2714791 1989 Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

PMID 8076946 1994 Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

PMID 8295821 1993 The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.

PMID 6603618 1983 Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

PMID 25251685 2014 Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

PMID 9169594 1997 Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.

PMID 2592373 1989 Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

PMID 23157203 2013 Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.

PMID 22274582 2012 Clinical utility gene card for: haemophilia B.

PMID 18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

PMID 2198809 1990 Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

PMID 23093250 2013 Our comprehensive HB population included five patients with long-lasting FIX inhibitors: three nonsense (p.E35* (novel), p.R75*, p.W240*) and two entire- F9 deletions.

PMID 27824213 2016 Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.

PMID 1969838 1990 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

PMID 19699296 2009 Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.

PMID 22639855 2012 Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

PMID 22544209 2012 Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.

PMID 29993188 2018 Results As a model we chose the most frequent HB mutation (p.R294Q, ~100 patients), compared with other recurrent mutations associated with severe/moderate type I HB.

PMID 2066105 1991 CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

PMID 1864609 1991 T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.

PMID 28752769 2018 Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

rs137852227 in F9 gene and Thrombophilia, X-Linked, Due To Factor Ix Defect PMID 23093250 2013 Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

PMID 1969838 1990 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

PMID 27824213 2016 Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.

PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

PMID 18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

PMID 2198809 1990 Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

PMID 2472424 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

PMID 19699296 2009 Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.

PMID 22639855 2012 Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

PMID 29993188 2018 The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

PMID 22544209 2012 Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.

PMID 2066105 1991 CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

PMID 1864609 1991 T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.

rs6048 in F9 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

PMID 31676865 2019 Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.