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... See more...

Aliases for F9 Gene

Aliases for F9 Gene

  • Coagulation Factor IX 2 3 4 5
  • Plasma Thromboplastic Component 2 3
  • Plasma Thromboplastin Component 3 4
  • Christmas Factor 3 4
  • EC 3.4.21.22 4 50
  • FIX 2 3
  • PTC 3 4
  • Christmas Disease 2
  • Hemophilia B 2
  • Factor IX F9 3
  • Factor IX 2
  • EC 3.4.21 50
  • Factor 9 3
  • F9 P22 3
  • THPH8 3
  • HEMB 3
  • P19 3
  • F9 5

External Ids for F9 Gene

Previous GeneCards Identifiers for F9 Gene

  • GC0XP133196
  • GC0XP135470
  • GC0XP136557
  • GC0XP137318
  • GC0XP138338
  • GC0XP138440
  • GC0XP138612
  • GC0XP127880

Summaries for F9 Gene

Entrez Gene Summary for F9 Gene

  • 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. [provided by RefSeq, Sep 2015]

GeneCards Summary for F9 Gene

F9 (Coagulation Factor IX) is a Protein Coding gene. Diseases associated with F9 include Hemophilia B and Thrombophilia, X-Linked, Due To Factor Ix Defect. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is F10.

UniProtKB/Swiss-Prot Summary for F9 Gene

  • Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa.

Gene Wiki entry for F9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F9 Gene

Genomics for F9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ139530 Promoter 0.8 EPDnew 250.7 0.0 0 0.1 YY1 FOXA2 RXRA ZBTB33 JUND HNF4A FOXA1 REST MAX SP1 F9 piR-61289-113 HSALNG0140399 FGF13
GH0XJ139544 Enhancer 0.6 ENCODE 0.4 +13.4 13447 0 YY1 FOXA2 RXRA ZBTB33 JUND HNF4A FOXA1 RAD21 REST SP1 HSALNG0140399 F9 MCF2
GH0XJ139559 Enhancer 0.5 Ensembl 0.3 +29.0 29043 0.7 ZNF654 REST CTCF RAD21 SMC3 HNF4A ZNF24 MZF1 HMBOX1 HSALNG0140399 HSALNG0140400 F9 MCF2
GH0XJ139642 Promoter 1.1 EPDnew Ensembl 0.1 +112.0 111981 1 ZNF10 MAFF ZNF316 MAFK REST MAFG ZNF362 ZBTB17 ZNF680 USF1 MCF2 lnc-ATP11C-1 piR-56133-251 F9
GH0XJ139484 Enhancer 0.3 Ensembl 0.3 -46.6 -46619 0.2 HNF4A SRD5A1P1 piR-61289-113 F9 HSALNG0140399 FGF13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F9

Top Transcription factor binding sites by QIAGEN in the F9 gene promoter:
  • ATF-2
  • Evi-1
  • GATA-1
  • HSF2
  • Lmo2
  • NF-1
  • POU2F1
  • POU2F1a

Genomic Locations for F9 Gene

Latest Assembly
chrX:139,530,720-139,563,459
(GRCh38/hg38)
Size:
32,740 bases
Orientation:
Plus strand

Previous Assembly
chrX:138,612,898-138,645,618
(GRCh37/hg19 by Entrez Gene)
Size:
32,721 bases
Orientation:
Plus strand

chrX:138,612,917-138,645,617
(GRCh37/hg19 by Ensembl)
Size:
32,701 bases
Orientation:
Plus strand

Genomic View for F9 Gene

Genes around F9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F9 Gene

Proteins for F9 Gene

  • Protein details for F9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00740-FA9_HUMAN
    Recommended name:
    Coagulation factor IX
    Protein Accession:
    P00740
    Secondary Accessions:
    • A8K9N4
    • F2RM36
    • Q5FBE1
    • Q5JYJ8

    Protein attributes for F9 Gene

    Size:
    461 amino acids
    Molecular mass:
    51778 Da
    Quaternary structure:
    • Heterodimer of a light chain and a heavy chain; disulfide-linked (PubMed:20121198, PubMed:20121197, PubMed:20080729). Interacts with SERPINC1.
    Miscellaneous:
    • In 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency syndrome contracted through treatment with blood products.

    Three dimensional structures from OCA and Proteopedia for F9 Gene

    Alternative splice isoforms for F9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for F9 Gene

Selected DME Specific Peptides for F9 Gene

P00740:
  • DIALLEL
  • YTKVSRY
  • EYTNIFL
  • RPKRYNSGKLEEFV
  • CGGSIVNE
  • SWGEECA
  • TEQKRNVIR
  • YVDGDQC
  • DSCQGDSGG
  • AFCGGSIVNEKW
  • DNKVVCSCT
  • VPFPCGR
  • LERECMEE
  • GDSGGPHVTEVEGTSFLTGIISWGEECA
  • VPLVDRATCLRST
  • GYVSGWG
  • EFWKQYVDGDQCE
  • CQGDSGGP
  • CKDDINSYECWC
  • IYNNMFCAG
  • NDFTRVVGG
  • HDIALLELD
  • NGGSCKD
  • GNLEREC

Post-translational modifications for F9 Gene

  • Activated by factor XIa, which excises the activation peptide (PubMed:9169594, PubMed:1730085). The propeptide can also be removed by snake venom protease (PubMed:20004170, PubMed:20080729).
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Thr85, Ser99, Ser107, Asn203, Thr205, Asn213, Thr215, and Thr225
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FA9_HUMAN (96)

Other Protein References for F9 Gene

Domains & Families for F9 Gene

Gene Families for F9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for F9 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Aspartic acid and asparagine hydroxylation site
  • Type II EGF-like signature
  • EGF-like calcium-binding
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature

Suggested Antigen Peptide Sequences for F9 Gene

GenScript: Design optimal peptide antigens:
  • Plasma thromboplastin component (FA9_HUMAN)
  • Coagulation factor IX (Q19UG1_HUMAN)
  • Coagulation factor IX (Q19UG2_HUMAN)
  • Coagulation factor IX (Q19UG3_HUMAN)
  • Coagulation factor IX (Q19UG4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00740

UniProtKB/Swiss-Prot:

FA9_HUMAN :
  • Calcium binds to the gamma-carboxyglutamic acid (Gla) residues in the Gla domain. Calcium can also bind, with stronger affinity, to another site beyond the Gla domain (PubMed:6425296). Under physiological ion concentrations, Ca(2+) is displaced by Mg(2+) from some of the gammaglutamate residues in the N-terminal Gla domain. This leads to a subtle conformation change that may affect the interaction with its binding protein (By similarity).
  • Belongs to the peptidase S1 family.
Domain:
  • Calcium binds to the gamma-carboxyglutamic acid (Gla) residues in the Gla domain. Calcium can also bind, with stronger affinity, to another site beyond the Gla domain (PubMed:6425296). Under physiological ion concentrations, Ca(2+) is displaced by Mg(2+) from some of the gammaglutamate residues in the N-terminal Gla domain. This leads to a subtle conformation change that may affect the interaction with its binding protein (By similarity).
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F9: view

Function for F9 Gene

Molecular function for F9 Gene

UniProtKB/Swiss-Prot Function:
Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa.; EC=3.4.21.22; Evidence={ECO:0000269|PubMed:12444082, ECO:0000269|PubMed:20121197, ECO:0000269|PubMed:20121198, ECO:0000269|PubMed:2592373};.
GENATLAS Biochemistry:
coagulation factor IX,vitamin K-dependent (plasma thromboplastic component)

Enzyme Numbers (IUBMB) for F9 Gene

Phenotypes From GWAS Catalog for F9 Gene

Gene Ontology (GO) - Molecular Function for F9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 2592373
GO:0004252 serine-type endopeptidase activity NAS 8632006
GO:0005509 calcium ion binding IDA 9169594
GO:0005515 protein binding IPI 26157780
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with F9: view
genes like me logo Genes that share phenotypes with F9: view

Human Phenotype Ontology for F9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F9 Gene

MGI Knock Outs for F9:
  • F9 F9<tm1Dws>
  • F9 F9<tm1Emg>
  • F9 F9<tm1Ver>

No data available for Transcription Factor Targets and HOMER Transcription for F9 Gene

Localization for F9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F9 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F9 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 4
nucleus 2
cytosol 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for F9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 2592373
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F9 Gene

Pathways & Interactions for F9 Gene

genes like me logo Genes that share pathways with F9: view

Pathways by source for F9 Gene

SIGNOR curated interactions for F9 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for F9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 20121197
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation IBA,IMP 2592373
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with F9: view

Drugs & Compounds for F9 Gene

(89) Drugs for F9 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menadione Approved Nutra Target, activator, inhibitor 346
Antihemophilic factor human Approved Pharma Target, activator 0
Antihemophilic factor, human recombinant Approved, Investigational Pharma Target, cofactor 0
Anti-inhibitor coagulant complex Approved, Investigational Pharma Enzyme, substrate 15
Coagulation factor VII human Approved, Investigational Pharma Target, activator 0

(44) Additional Compounds for F9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for F9 Gene

Compound Action Cas Number
Rivaroxaban Factor Xa inhibitor 366789-02-8
genes like me logo Genes that share compounds with F9: view

Drug products for research

Transcripts for F9 Gene

mRNA/cDNA for F9 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for F9 Gene

No ASD Table

Relevant External Links for F9 Gene

GeneLoc Exon Structure for
F9

Expression for F9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F9 Gene

This gene is overexpressed in Liver (x52.8).

Protein differential expression in normal tissues from HIPED for F9 Gene

This gene is overexpressed in Serum (26.0) and Plasma (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for F9 Gene



Protein tissue co-expression partners for F9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F9

SOURCE GeneReport for Unigene cluster for F9 Gene:

Hs.522798

mRNA Expression by UniProt/SwissProt for F9 Gene:

P00740-FA9_HUMAN
Tissue specificity: Detected in blood plasma (at protein level) (PubMed:3857619, PubMed:8295821, PubMed:2592373, PubMed:9169594, PubMed:19846852). Synthesized primarily in the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for F9 Gene

  • Liver(4.8)
  • Blood(3.1)
  • Heart(2.7)
  • Kidney(2.6)
  • Nervous system(2.2)
  • Muscle(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F9 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • skeleton
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with F9: view

Primer products for research

Orthologs for F9 Gene

This gene was present in the common ancestor of animals.

Orthologs for F9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia F9 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F9 29 30
  • 88.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F9 29 16 30
  • 85.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia F9 29
  • 85.83 (n)
Cow
(Bos Taurus)
Mammalia F9 30
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia F9 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia F9 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F9 29 30
  • 61.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F9 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia f9 29
  • 61.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii f9b 29 30
  • 55.56 (n)
OneToMany
f9a 30
  • 41 (a)
OneToMany
f9 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4914 31
  • 34 (a)
Worm
(Caenorhabditis elegans)
Secernentea C07G1.1 31
  • 40 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 17 (a)
OneToMany
Species where no ortholog for F9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for F9 Gene

ENSEMBL:
Gene Tree for F9 (if available)
TreeFam:
Gene Tree for F9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for F9: view image
Alliance of Genome Resources:
Additional Orthologs for F9

Paralogs for F9 Gene

(120) SIMAP similar genes for F9 Gene using alignment to 46 proteins:

  • FA9_HUMAN
  • Q19UG1_HUMAN
  • Q19UG2_HUMAN
  • Q19UG3_HUMAN
  • Q19UG4_HUMAN
  • Q19UG5_HUMAN
  • Q19UG6_HUMAN
  • Q19UG8_HUMAN
  • Q19UG9_HUMAN
  • Q19UH5_HUMAN
  • Q19UH6_HUMAN
  • Q19UH8_HUMAN
  • Q19UH9_HUMAN
  • Q19UI1_HUMAN
  • Q19UI2_HUMAN
  • Q19UI3_HUMAN
  • Q19UI4_HUMAN
  • Q19UI5_HUMAN
  • Q19UI6_HUMAN
  • Q19UJ0_HUMAN
  • Q19UJ1_HUMAN
  • Q19UJ4_HUMAN
  • Q19UJ5_HUMAN
  • Q19UJ6_HUMAN
  • Q19UJ7_HUMAN
  • Q19UJ9_HUMAN
  • Q19UK0_HUMAN
  • Q19UK1_HUMAN
  • Q19UK3_HUMAN
  • Q19UK4_HUMAN
  • Q19UK5_HUMAN
  • Q19UK6_HUMAN
  • Q19UK7_HUMAN
  • Q19UK8_HUMAN
  • Q19UK9_HUMAN
  • Q19UL0_HUMAN
  • Q19UL1_HUMAN
  • Q19UL3_HUMAN
  • Q19UL5_HUMAN
  • Q19UL6_HUMAN
  • Q19UL8_HUMAN
  • Q19UM0_HUMAN
  • Q19UM1_HUMAN
  • Q19UM2_HUMAN
  • Q7Z7N0_HUMAN
  • Q86XR9_HUMAN
genes like me logo Genes that share paralogs with F9: view

Variants for F9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F9 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1013081 Uncertain Significance: not provided 139,561,724(+) A/G
NM_000133.4(F9):c.1039A>G (p.Lys347Glu)
MISSENSE
1026859 Uncertain Significance: Thrombophilia, X-linked, due to factor IX defect; Hereditary factor IX deficiency disease 139,541,162(+) G/A
NM_000133.4(F9):c.364G>A (p.Gly122Arg)
MISSENSE_VARIANT,INTRON
1039443 Uncertain Significance: Thrombophilia, X-linked, due to factor IX defect; Hereditary factor IX deficiency disease 139,561,961(+) A/C
NM_000133.4(F9):c.1276A>C (p.Thr426Pro)
MISSENSE
834544 Uncertain Significance: Thrombophilia, X-linked, due to factor IX defect; Hereditary factor IX deficiency disease 139,537,043(+) T/G
NM_000133.4(F9):c.122T>G (p.Leu41Arg)
MISSENSE
835343 Uncertain Significance: Thrombophilia, X-linked, due to factor IX defect; Hereditary factor IX deficiency disease 139,561,940(+) G/A
NM_000133.4(F9):c.1255G>A (p.Val419Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for F9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for F9 Gene

Variant ID Type Subtype PubMed ID
esv2740521 CNV deletion 23290073
nsv1151548 CNV duplication 26484159
nsv476787 CNV novel sequence insertion 20440878
nsv477634 CNV novel sequence insertion 20440878
nsv521021 CNV gain 19592680
nsv528242 CNV gain 19592680

Variation tolerance for F9 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for F9 Gene

Human Gene Mutation Database (HGMD)
F9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F9
Leiden Open Variation Database (LOVD)
F9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F9 Gene

Disorders for F9 Gene

MalaCards: The human disease database

(53) MalaCards diseases for F9 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hemophilia b
  • hemb
thrombophilia, x-linked, due to factor ix defect
  • thph8
warfarin sensitivity, x-linked
  • coumarin sensitivity, x-linked
hemophilia a
  • hema
factor viii deficiency
  • autosomal hemophilia a
- elite association - COSMIC cancer census association via MalaCards
Search F9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA9_HUMAN
  • Hemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. {ECO:0000269 PubMed:10094553, ECO:0000269 PubMed:10698280, ECO:0000269 PubMed:11122099, ECO:0000269 PubMed:12588353, ECO:0000269 PubMed:12604421, ECO:0000269 PubMed:1346975, ECO:0000269 PubMed:1615485, ECO:0000269 PubMed:1902289, ECO:0000269 PubMed:1958666, ECO:0000269 PubMed:2162822, ECO:0000269 PubMed:2339358, ECO:0000269 PubMed:2372509, ECO:0000269 PubMed:2472424, ECO:0000269 PubMed:25251685, ECO:0000269 PubMed:25470321, ECO:0000269 PubMed:2592373, ECO:0000269 PubMed:2713493, ECO:0000269 PubMed:2714791, ECO:0000269 PubMed:2738071, ECO:0000269 PubMed:2753873, ECO:0000269 PubMed:2773937, ECO:0000269 PubMed:2775660, ECO:0000269 PubMed:3009023, ECO:0000269 PubMed:3243764, ECO:0000269 PubMed:3401602, ECO:0000269 PubMed:3790720, ECO:0000269 PubMed:6603618, ECO:0000269 PubMed:7981722, ECO:0000269 PubMed:8076946, ECO:0000269 PubMed:8199596, ECO:0000269 PubMed:8257988, ECO:0000269 PubMed:8295821, ECO:0000269 PubMed:8680410, ECO:0000269 PubMed:9169594, ECO:0000269 PubMed:9222764, ECO:0000269 PubMed:9452115, ECO:0000269 PubMed:9590153, ECO:0000269 PubMed:9600455}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide (PubMed:12588353, PubMed:2738071, PubMed:3009023, PubMed:8295821, PubMed:9169594, PubMed:9600455, PubMed:25251685). Mutation in position 93 (Alabama) probably fails to bind to cell membranes (PubMed:3790720). Mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya or Hilo) prevent cleavage of the activation peptide (PubMed:6603618, PubMed:8076946, PubMed:12588353, PubMed:2162822, PubMed:25251685, PubMed:2713493). {ECO:0000269 PubMed:12588353, ECO:0000269 PubMed:2162822, ECO:0000269 PubMed:25251685, ECO:0000269 PubMed:2713493, ECO:0000269 PubMed:2738071, ECO:0000269 PubMed:3009023, ECO:0000269 PubMed:3790720, ECO:0000269 PubMed:6603618, ECO:0000269 PubMed:8076946, ECO:0000269 PubMed:8295821, ECO:0000269 PubMed:9169594, ECO:0000269 PubMed:9600455}.
  • Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269 PubMed:19846852}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Warfarin sensitivity, X-linked (WARFS) [MIM:301052]: A condition characterized by sensitivity to warfarin, a drugs used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. Warfarin sensitive individuals develop bleeding complications when they are given warfarin within the therapeutic ranges. {ECO:0000269 PubMed:29450643, ECO:0000269 PubMed:8833911, ECO:0000269 PubMed:9233593}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for F9 Gene

hemophilia B,Christmas disease,with a higher rate of transmitted mutation with increased maternal age

Additional Disease Information for F9

Human Genome Epidemiology Navigator
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Publications for F9 Gene

  1. A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism. (PMID: 8833911) Chu K … High KA (The Journal of clinical investigation 1996) 3 4 22 72
  2. Crystal structure of the calcium-stabilized human factor IX Gla domain bound to a conformation-specific anti-factor IX antibody. (PMID: 14722079) Huang M … Furie B (The Journal of biological chemistry 2004) 3 4 22
  3. 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: 9169594) Wojcik EG … Bertina RM (The Biochemical journal 1997) 3 4 22
  4. Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX. (PMID: 8663165) Freedman SJ … Furie B (The Journal of biological chemistry 1996) 3 4 22
  5. Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX. (PMID: 7547952) Freedman SJ … Baleja JD (Biochemistry 1995) 3 4 22

Products for F9 Gene

Sources for F9 Gene