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F9 Gene

protein-coding   GIFtS: 71
GCID: GC0XP138612

Coagulation Factor IX

  See F9-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coagulation Factor IX1 2     Factor IX1
Plasma Thromboplastic Component1 2     Hemophilia B1
Plasma Thromboplastin Component2 3     FIX2
PTC2 3     P192
Christmas Factor2 3     F9 P222
EC 3.4.21.223 8     Factor 92
HEMB2 5     Factor IX F92
THPH82 5     FIX F92
Christmas Disease1     EC 3.4.218

External Ids:    HGNC: 35511   Entrez Gene: 21582   Ensembl: ENSG000001019817   OMIM: 3007465   UniProtKB: P007403   

Export aliases for F9 gene to outside databases

Previous GC identifers: GC0XP133196 GC0XP135470 GC0XP136557 GC0XP137318 GC0XP138338 GC0XP138440 GC0XP127880


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul 2008)

GeneCards Summary for F9 Gene:
F9 (coagulation factor IX) is a protein-coding gene. Diseases associated with F9 include hemarthrosis, and mild hemophilia b. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
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

Gene Wiki entry for F9 (Factor IX) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the F9 gene promoter:
         NF-1   POU2F1   POU2F1a   HSF2   ATF-2   Lmo2   GATA-1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF9 promoter sequence
   Search Chromatin IP Primers for F9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27.1-q27.2   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq26.3-q27.1

F9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F9 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP138612:  view genomic region     (about GC identifiers)

Start:
138,612,895 bp from pter      End:
138,645,617 bp from pter
Size:
32,723 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FA9_HUMAN, P00740 (See protein sequence)
Recommended Name: Coagulation factor IX precursor  
Size: 461 amino acids; 51778 Da
Subunit: Heterodimer of a light chain and a heavy chain; disulfide-linked
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
Selected PDB 3D structures from and Proteopedia for F9 (see all 16):
1CFH (3D)        1CFI (3D)        1EDM (3D)        1IXA (3D)        1MGX (3D)        1NL0 (3D)    
Secondary accessions: A8K9N4 F2RM36 Q5FBE1 Q5JYJ8
Alternative splicing: 2 isoforms:  P00740-1   P00740-2   

Explore the universe of human proteins at neXtProt for F9: NX_P00740

Explore proteomics data for F9 at MOPED

Post-translational modifications: 

  • Activated by factor XIa, which excises the activation peptide1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains1
  • Glycosylation2 at Ser99, Ser107, Asn203, Thr205, Asn213, Thr215
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for F9 (P00740) (see all 24)
     GYVSGWG  DIALLEL  YTKVSRY  EYTNIFL 


    See F9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000124.1  
    ENSEMBL proteins: 
     ENSP00000218099   ENSP00000377650  
    Reactome Protein details: P00740

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR001314 Peptidase_S1A
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P00740

    ProtoNet protein and cluster: P00740

    Selected Blocks protein domains (see all 7):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB001438 Type II EGF-like signature


    UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
    Domain: Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another
    site, beyond the Gla domain
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with F9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA9_HUMAN, P00740
    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
    Catalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor Xa

         Genatlas biochemistry entry for F9:
    coagulation factor IX,vitamin K-dependent (plasma thromboplastic component)

         Enzyme Numbers (IUBMB): EC 3.4.21.221 2 EC 3.4.212

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
         
    Find genes that share ontologies with F9           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for F9):
     cardiovascular system  embryogenesis  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging 

    Find genes that share phenotypes with F9           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for F9: F9tm1Emg F9tm1Ver F9tm1Dws

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    SwitchGear 3'UTR luciferase reporter plasmidF9 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FA9_HUMAN, P00740: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    golgi apparatus4
    plasma membrane4
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with F9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for F9 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Pathway0.00
    Blood Clotting Cascade0.42
    2PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.00
    Warfarin Pathway, Pharmacodynamics0.31
    Gamma-carboxylation of protein precursors0.00
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.00
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.00
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    4Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with F9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F9
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F9
        Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    2 BioSystems Pathways for F9
        Blood Clotting Cascade
    Complement and Coagulation Cascades


    5 Reactome Pathways for F9
        Extrinsic Pathway
    Intrinsic Pathway
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Gamma-carboxylation of protein precursors

    1 PharmGKB Pathway for F9
        Warfarin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for F9):
        Complement and coagulation cascades

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F9
    Interactions:

        GeneGlobe Interaction Network for F9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for F9 (P007403 ENSP000002180994) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP1Q079543, ENSP000002430774I2D: score=2 STRING: ENSP00000243077
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    F7P087093, ENSP000003647314I2D: score=1 STRING: ENSP00000364731
    F8P004513, ENSP000003533934I2D: score=1 STRING: ENSP00000353393
    GGCXP384353, ENSP000002338384I2D: score=1 STRING: ENSP00000233838
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    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS--
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0007598blood coagulation, extrinsic pathway TAS--
    GO:0017187peptidyl-glutamic acid carboxylation TAS--

    Find genes that share ontologies with F9           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for F9 (FA9)

    UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
    Pharmaceutical: Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B

    2 HMDB Compounds for F9    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--

    1 DrugBank Compound for F9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Gamma-Carboxy-Glutamic Acid-- --target----

    Selected Novoseek inferred chemical compound relationships for F9 gene (see all 108)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononine 92.2 27 7495063 (2), 10444284 (2), 1531035 (2), 7571996 (2) (see all 15)
    gamma-carboxyglutamic acid 87.5 113 12496253 (6), 8180219 (4), 17387172 (3), 9169594 (3) (see all 32)
    erythro-beta-hydroxyaspartic acid 77.8 1 7906269 (1)
    p-amino benzamidine 75.5 8 15829482 (1), 17676929 (1), 7740454 (1)
    fibrinogen 69.2 68 18409149 (4), 11111234 (2), 12228267 (2), 17586991 (2) (see all 57)
    rfviii 60.4 1 16420569 (1)
    echicetin 53.4 1 7599152 (1)
    kininogen 52.6 6 2315884 (2), 2341766 (1), 11579964 (1), 9951632 (1) (see all 5)
    phospholipid 51 39 2248955 (3), 7680311 (3), 2363125 (2), 7547952 (2) (see all 23)
    chymotrypsinogen 49.6 1 11551226 (1)



    Find genes that share compounds with F9           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for F9 gene: 
    NM_000133.3  

    Unigene Cluster for F9:

    Coagulation factor IX
    Hs.522798  [show with all ESTs]
    Unigene Representative Sequence: NM_000133
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479617 ENST00000218099(uc004fas.1 uc004fat.1) ENST00000394090

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    Additional mRNA sequence: 

    AB186358.1 AK292749.1 BC109214.1 BC109215.1 FR846238.1 FR846239.1 FR846240.1 J00136.1 
    J00137.1 M11309.1 M35672.1 

    4 DOTS entries:

    DT.100735617  DT.208175  DT.91668233  DT.91668240 

    24 AceView cDNA sequences:

    T28608 NM_000133 CB157484 M35672 M11309 CD607649 A22478 CB156936 
    A22493 J00136 J00137 BX495480 AV695793 AV696892 AV694632 BX495491 
    AV689501 AV684051 AV698079 AV685937 BX448845 AV687276 AV695911 AV690464 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    F9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACATTTTG
    F9 Expression
    About this image


    F9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
    F9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522798

    UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
    Tissue specificity: Synthesized primarily in the liver and secreted in plasma

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for F9 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F91 , 5 coagulation factor IX1, 5 85.83(n)1
    82(a)1
      X (33.50 cM)5
    140711  NM_007979.11  NP_032005.11 
     599994645 
    chicken
    (Gallus gallus)
    Aves F91 coagulation factor IX 61.37(n)
    57.17(a)
      374258  NM_204343.1  NP_989674.1 
    lizard
    (Anolis carolinensis)
    Reptilia F96
    coagulation factor IX
    56(a)
    1 ↔ 1
    GL343694.1(74806-86112)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f91 coagulation factor 9 61.87(n)
    54.87(a)
      496659  NM_001011223.1  NP_001011223.1 
    zebrafish
    (Danio rerio)
    Actinopterygii f92 coagulation factor IX 75.85(n)   359826  AF515270.1 


    ENSEMBL Gene Tree for F9 (if available)
    TreeFam Gene Tree for F9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F9 gene
    PROZ2  C1S2  C1R2  C1RL2  F102  MASP12  F22  HPR2  
    HP2  PROC2  F72  MASP22  
    Selected SIMAP similar genes for F9 using alignment to 46 protein entries:     FA9_HUMAN (see all proteins) (see all similar genes):
    F9 p22    factor IX F9    CRB1    SLIT2    SLIT3    FAT4
    PRRG3    F10    PRRG1    JAG1    PROS1    NOTCH3
    VWA2    FAT1    SNED1    SVEP1    CELSR3    EGFLAM

    Find genes that share paralogs with F9           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for F9 (see all 741)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0065554
    Hemophilia B (HEMB)4--see VAR_0065552 C F mis40--------
    VAR_0173434
    Hemophilia B (HEMB)4--see VAR_0173432 C Y mis40--------
    VAR_0065434
    Hemophilia B (HEMB)4--see VAR_0065432 Y C mis40--------
    VAR_0066124
    Hemophilia B (HEMB)4--see VAR_0066122 G S mis40--------
    VAR_0173174
    Hemophilia B (HEMB)4--see VAR_0173172 A P mis40--------
    VAR_0065984
    Hemophilia B (HEMB)4--see VAR_0065982 C Y mis40--------
    VAR_0065364
    Hemophilia B (HEMB)4--see VAR_0065362 G R mis40--------
    VAR_0065934
    Hemophilia B (HEMB)4--see VAR_0065932 K E mis40--------
    VAR_0065704
    Hemophilia B (HEMB)4--see VAR_0065702 R W mis40--------
    VAR_0065264
    Hemophilia B (HEMB)4--see VAR_0065262 R W mis40--------

    HapMap Linkage Disequilibrium report for F9 (138612895 - 138645617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for F9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740521CNV Deletion23290073
    nsv528242CNV Gain19592680
    nsv521021CNV Gain19592680

    Human Gene Mutation Database (HGMD): F9
    Locus Specific Mutation Databases (LSDB): F9

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300746   
    OMIM disorders: 306900  122700  300807  
    UniProtKB/Swiss-Prot: FA9_HUMAN, P00740
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the
    propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191
    (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide
  • Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]: A hemostatic disorder
    characterized by a tendency to thrombosis. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for F9 (see all 26):    
    About MalaCards
    hemarthrosis    mild hemophilia b    hemophilia b    moderately severe hemophilia b
    severe hemophilia b    deep venous thrombosis, protection against    symptomatic form of hemophilia b in female carriers    thrombophilia, x-linked, due to factor ix defect
    factor xi deficiency    acquired hemophilia    hemophilia    warfarin sensitivity
    venous thrombosis    factor x deficiency    hemophilic arthropathy    factor xii deficiency
    factor v deficiency    factor vii deficiency    cardiac tamponade    hemorrhagic disease

    10 diseases from the University of Copenhagen DISEASES database for F9:
    Hemophilia B     Factor XI deficiency     Von Willebrand's disease     Factor VII deficiency
    Factor VIII deficiency     Hemorrhagic disease     Hepatitis     Pain agnosia
    Thrombophilia     Factor X deficiency

    Find genes that share disorders with F9           About GenesLikeMe

    Selected Novoseek inferred disease relationships for F9 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemophilia b 98.4 508 7974341 (4), 1495722 (4), 11931806 (3), 8579061 (3) (see all 99)
    hemophilia a 88.4 74 15508114 (2), 18388500 (2), 8352232 (2), 2105634 (1) (see all 56)
    coagulopathy 84 75 9883841 (2), 1495722 (2), 2105634 (1), 1905206 (1) (see all 55)
    factor xi deficiency 75.6 7 8639777 (2), 12432326 (1), 15611579 (1), 15842381 (1) (see all 6)
    factor vii deficiency 72.1 5 8904177 (1), 10805278 (1), 15660984 (1), 7579395 (1) (see all 5)
    bleeding 71.4 131 18721150 (4), 7886549 (3), 16269929 (3), 9446637 (3) (see all 88)
    factor x deficiency 68.1 4 8028609 (2), 9038673 (1), 18374200 (1)
    von willebrand disease 63.1 15 7600466 (1), 12432326 (1), 15357775 (1), 10517121 (1) (see all 13)
    hemarthrosis 62.5 4 8579741 (1), 18716130 (1), 15569163 (1), 1782338 (1)
    inherited coagulation disorders 61.7 4 11735604 (1), 12109144 (1)

    Genatlas disease: F9
    hemophilia B,Christmas disease,with a higher rate of transmitted mutation with increased maternal age

    GeneTests: F9
    GeneReviews: F9
    Genetic Association Database (GAD): F9
    Human Genome Epidemiology (HuGE) Navigator: F9 (24 documents)

    Export disorders for F9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for F9 gene, integrated from 10 sources (see all 1052):
    (articles sorted by number of sources associating them with F9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism. (PubMed id 8833911)1, 2, 9 Chu K.... High K.A. (J. Clin. Invest. 1996)
    2. F9 MalmAP, factor IX and deep vein thrombosis. (PubMed id 19286883)1, 4, 9 Bezemer I.D....Bare L.A. (Haematologica 2009)
    3. Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX. (PubMed id 7547952)1, 2, 9 Freedman S.J.... Baleja J.D. (Biochemistry 1995)
    4. Activation peptide of human factor IX has oligosaccharides O- glycosidically linked to threonine residues at 159 and 169. (PubMed id 8172892)1, 2, 9 Agarwala K.L.... Iwanaga S. (Biochemistry 1994)
    5. Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online. (PubMed id 17397055)1, 4, 9 Mahajan A....Bharadwaj D. (Hum. Mutat. 2007)
    6. Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. (PubMed id 12588353)1, 2, 9 Onay U.V.... Caglayan S.H. (Br. J. Haematol. 2003)
    7. Identification of the phospholipid binding site in the vitamin K- dependent blood coagulation protein factor IX. (PubMed id 8663165)1, 2, 9 Freedman S.J....Furie B. (J. Biol. Chem. 1996)
    8. Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy. (PubMed id 7713897)1, 2, 9 Freedman S.J.... Baleja J.D. (J. Biol. Chem. 1995)
    9. The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions. (PubMed id 7606779)1, 2, 9 Rao Z.... Stuart D. (Cell 1995)
    10. The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. (PubMed id 8295821)1, 2, 9 de la Salle C....Balland A. (Nouv. Rev. Fr. Hematol. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2158 HGNC: 3551 AceView: F9 Ensembl:ENSG00000101981 euGenes: HUgn2158
    ECgene: F9 Kegg: 2158 H-InvDB: F9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for F9 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Factor_IX
    Factor IX Mutation Databasehttp://www.factorix.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F9[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/f9/
    BeneFixhttp://www.pfizer.com/products/rx/rx_product_benefix.jsp
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/041

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F9 gene:
    Search GeneIP for patents involving F9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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