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F8 Gene

protein-coding   GIFtS: 66
GCID: GC0XM154064

Coagulation Factor VIII, Procoagulant Component


(Previous symbol: F8C)
Microbiology & Infectious Diseases Congress
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(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 VIII, Procoagulant Component1 2     DXS1253E2
F8C1 2 3 5     F8B2
Antihemophilic Factor2 3     FVIII2
AHF2 3     Coagulation Factor VIII2
HEMA2 5     Coagulation Factor VIIIc2
Factor VIIIF8B1     Factor VIII F8B2
Hemophilia A1     Procoagulant Component3

External Ids:    HGNC: 35461   Entrez Gene: 21572   Ensembl: ENSG000001850107   OMIM: 3008415   UniProtKB: P004513   

Export aliases for F8 gene to outside databases

Previous GC identifers: GC0XM148127 GC0XM150444 GC0XM151651 GC0XM152532 GC0XM153627 GC0XM153717 GC0XM142607


(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 F8 Gene:
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation;
factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to
the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a
large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a
noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative
small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This
binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common
recessive X-linked coagulation disorder. (provided by RefSeq, Jul 2008)

GeneCards Summary for F8 Gene:
F8 (coagulation factor VIII, procoagulant component) is a protein-coding gene. Diseases associated with F8 include breast reconstruction, and mild hemophilia a. GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is DCBLD1.

UniProtKB/Swiss-Prot: FA8_HUMAN, P00451
Function: Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts
factor X to the activated form, factor Xa

Gene Wiki entry for F8 (Factor VIII) 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:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the F8 gene promoter:
         GR   GR-beta   Nkx2-5   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): F8 promoter sequence
   Search Chromatin IP Primers for F8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F8


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

F8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F8 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154064:  view genomic region     (about GC identifiers)

Start:
154,064,063 bp from pter      End:
154,255,215 bp from pter
Size:
191,153 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FA8_HUMAN, P00451 (See protein sequence)
Recommended Name: Coagulation factor VIII precursor  
Size: 2351 amino acids; 267009 Da
Subunit: Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation
Mass spectrometry: Mass=1367.6; Method=Electrospray; Range=356-378; Note=Nonsulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=1407.4; Method=Electrospray; Range=356-378; Note=Sulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=2975.4; Method=Electrospray; Range=400-424; Note=Nonsulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=3024; Method=Electrospray; Range=727-752; Note=Nonsulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=3104; Method=Electrospray; Range=727-752; Note=Monosulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=3183.5; Method=Electrospray; Range=727-752; Note=Disulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=3262.5; Method=Electrospray; Range=727-752; Note=Trisulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=2460.9; Method=Electrospray; Range=1672-1692; Note=Nonsulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=2540.7; Method=Electrospray; Range=1672-1692; Note=Sulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=2000.7; Method=Electrospray; Range=1691-1708; Note=Nonsulfated; Source=PubMed:10368977;
Mass spectrometry: Mass=2080.7; Method=Electrospray; Range=1691-1708; Note=Sulfated; Source=PubMed:10368977;
Selected PDB 3D structures from and Proteopedia for F8 (see all 13):
1CFG (3D)        1D7P (3D)        1FAC (3D)        1IQD (3D)        2R7E (3D)        3CDZ (3D)    
Secondary accessions: Q14286 Q5HY69
Alternative splicing: 2 isoforms:  P00451-1   P00451-2   

Explore the universe of human proteins at neXtProt for F8: NX_P00451

Explore proteomics data for F8 at MOPED

Post-translational modifications: 

  • Sulfation on Tyr-1699 is essential for binding vWF1
  • Glycosylation2 at Asn60, Asn258, Asn601, Asn776, Asn803, Asn847, Asn919, Asn962, Asn982, Asn1020,
                                 Asn1024, Asn1074, Asn1085, Asn1204, Asn1274, Asn1278, Asn1301, Asn1319, Asn1431, Asn1461 (see all 22)
  • Modification sites at PhosphoSitePlus

  • See F8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000123.1  NP_063916.1  

    ENSEMBL proteins: 
     ENSP00000327895   ENSP00000353393   ENSP00000409446   ENSP00000389153  
    Reactome Protein details: P00451

    F8 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for F8
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    OriGene Custom Protein Services for F8
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    Novus Biologicals F8 Proteins
    Novus Biologicals F8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for F8
    Cloud-Clone Corp. Proteins for F8

    F8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of F8
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    Novus Biologicals F8 Antibodies
    Abcam antibodies for F8
    Cloud-Clone Corp. Antibodies for F8
    ThermoFisher Antibody for F8
    LSBio Antibodies in human, mouse, rat for F8

    F8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for F8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for F8
    Cloud-Clone Corp. CLIAs for F8


    (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 8):
     IPR024715 Factor_5/8
     IPR011707 Cu-oxidase_3
     IPR008979 Galactose-bd-like
     IPR011706 Cu-oxidase_2
     IPR008972 Cupredoxin

    Graphical View of Domain Structure for InterPro Entry P00451

    ProtoNet protein and cluster: P00451

    3 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001117 Multicopper oxidase
    IPB011706 Multicopper oxidase


    UniProtKB/Swiss-Prot: FA8_HUMAN, P00451
    Domain: Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity
    Similarity: Belongs to the multicopper oxidase family
    Similarity: Contains 3 F5/8 type A domains
    Similarity: Contains 2 F5/8 type C domains
    Similarity: Contains 6 plastocyanin-like domains


    F8 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA8_HUMAN, P00451
    Function: Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts
    factor X to the activated form, factor Xa

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005507copper ion binding IEA--
    GO:0005515protein binding IPI7756647
    GO:0016491oxidoreductase activity IEA--
         
    F8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for F8:
     Increased cell death HMECs cel 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for F8):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  reproductive system 

    F8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for F8: F8tm1Kaz F8tm2Kaz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for F8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for F8

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat F8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate F8 (see all 11):
    hsa-miR-4291 hsa-miR-1290 hsa-miR-539 hsa-miR-548aa hsa-miR-214 hsa-miR-542-3p hsa-miR-3121-3p hsa-miR-297
    SwitchGear 3'UTR luciferase reporter plasmidF8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for F8
    Predesigned siRNA for gene silencing in human, mouse, rat F8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for F8

    Clone
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    OriGene clones in human, mouse for F8 (see all 12)
    OriGene ORF clones in mouse, rat for F8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for F8
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for F8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F8

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for F8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F8


    (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
    FA8_HUMAN, P00451: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytoskeleton3
    endoplasmic reticulum2
    nucleus2
    endosome1
    golgi apparatus1
    lysosome1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0031093platelet alpha granule lumen TAS--

    F8 for ontologies           About GeneDecksing


    (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 F8 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    5Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F8
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F8
        Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    2 BioSystems Pathways for F8
        Blood Clotting Cascade
    Complement and Coagulation Cascades

    2 Reactome Pathways for F8
        Platelet degranulation
    Intrinsic Pathway


    1 Kegg Pathway  (Kegg details for F8):
        Complement and coagulation cascades


    F8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including F8: 
              NFKB Signaling Targets in human mouse rat
              Lymphoma in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for F8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for F8 (P004512, 3 ENSP000003533934) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP1Q079543, ENSP000002430774I2D: score=3 STRING: ENSP00000243077
    VWFP042753, ENSP000002614054I2D: score=3 STRING: ENSP00000261405
    CALRP277973, ENSP000003208664I2D: score=2 STRING: ENSP00000320866
    HSPA5P110213, ENSP000003241734I2D: score=2 STRING: ENSP00000324173
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006953acute-phase response IEA--
    GO:0007155cell adhesion IEA--
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--

    F8 for ontologies           About GeneDecksing



    (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 F8 (FA8)

    UniProtKB/Swiss-Prot: FA8_HUMAN, P00451
    Pharmaceutical: Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products).
    Used to treat hemophilia A

    1 HMDB Compound for F8    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for F8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9targetcofactor11150722 659613 16476097 12719776 14598591 12826528
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6targetmultitarget18954704 11752352 9184404

    Selected Novoseek inferred chemical compound relationships for F8 gene (see all 95)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rfviii 94.3 104 1899619 (4), 8756394 (3), 11187864 (3), 12216115 (3) (see all 42)
    kogenate 90.7 30 10979218 (3), 16926139 (2), 11380627 (1), 18416588 (1) (see all 15)
    ristocetin 89.7 113 17586991 (3), 10744159 (2), 7572006 (2), 1703813 (1) (see all 79)
    refacto 87.1 42 15102018 (4), 19298379 (4), 17610548 (4), 17286764 (4) (see all 10)
    desmopressin 86.1 218 10929043 (8), 8322282 (5), 7819109 (5), 8874865 (5) (see all 82)
    recombinate 85.4 13 1448776 (1), 11442642 (1), 17456190 (1), 1457586 (1) (see all 10)
    helixate 76.1 4 18416588 (1)
    fibrinogen 73.2 184 1585439 (5), 16362590 (3), 18289163 (3), 10886222 (3) (see all 99)
    tributylphosphate 57.2 8 16507321 (2), 16756602 (2), 1697997 (1)
    rituximab 49.6 12 17212724 (3), 19320828 (2), 12384448 (1), 18414981 (1) (see all 9)



    F8 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for F8 gene (2 alternative transcripts): 
    NM_000132.3  NM_019863.2  

    Unigene Clusters for F8:

    Coagulation factor VIII, procoagulant component
    Hs.632836  [show with all ESTs], Hs.654450  [show with all ESTs]
    Unigene Representative Sequences: BG105416, NM_000132
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330287(uc004fms.3) ENST00000360256(uc010nvi.1 uc004fmt.3)
    ENST00000483822 ENST00000423959(uc011mzx.1) ENST00000453950
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate F8 (see all 11):
    hsa-miR-4291 hsa-miR-1290 hsa-miR-539 hsa-miR-548aa hsa-miR-214 hsa-miR-542-3p hsa-miR-3121-3p hsa-miR-297
    SwitchGear 3'UTR luciferase reporter plasmidF8 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    OriGene qPCR primer pairs and template standards for F8
    OriGene qSTAR qPCR primer pairs in human, mouse for F8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat F8
      QuantiTect SYBR Green Assays in human, mouse, rat F8
      QuantiFast Probe-based Assays in human, mouse, rat F8

    Additional mRNA sequence: 

    AK289947.1 AK292902.1 AK295164.1 AK307726.1 AK313707.1 BC022513.1 BC064380.1 BC098389.1 
    BC111967.1 BC111969.1 BC150305.1 FN811132.1 K01740.1 M14113.1 M90707.1 X01179.1 

    13 DOTS entries:

    DT.95361537  DT.442566  DT.415840  DT.95206260  DT.100779256  DT.91852393  DT.100742082  DT.100030151 
    DT.121312596  DT.95156169  DT.121291745  DT.454648  DT.91729072 

    Selected AceView cDNA sequences (see all 86):

    CA389921 NM_000132 BX951926 F12385 NM_019863 BQ721191 BU855229 CD557999 
    BC022513 BQ880871 X01179 CB054305 CK826280 BQ548947 BX280670 D45586 
    BX489830 BC064380 BQ548655 M14113 M90707 BX501434 BM548207 CB994611 

    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)
    About This Section

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    F8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACGTACC
    F8 Expression
    About this image

    F8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F8 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.632836 Hs.654450
        Pathway & Disease-focused RT2 Profiler PCR Arrays including F8: 
              NFKB Signaling Targets in human mouse rat
              Lymphoma in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for F8
    OriGene qSTAR qPCR primer pairs in human, mouse for F8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat F8
    QuantiTect SYBR Green Assays in human, mouse, rat F8
    QuantiFast Probe-based Assays in human, mouse, rat F8
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F8

    (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 F8 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F81 , 5 coagulation factor VIII1, 5 82.16(n)1
    74.22(a)1
      X (38.17 cM)5
    140691  NM_007977.21  NP_032003.21 
     751727155 
    chicken
    (Gallus gallus)
    Aves F86
    coagulation factor VIII, procoagulant component
    46(a)
    1 ↔ 1
    4(2122995-2142344)
    lizard
    (Anolis carolinensis)
    Reptilia F86
    coagulation factor VIII, procoagulant component
    40(a)
    1 ↔ 1
    GL343528.1(343968-377523)
    zebrafish
    (Danio rerio)
    Actinopterygii f86
    coagulation factor VIII, procoagulant component
    31(a)
    1 ↔ 1
    14(1005561-1038983) ENSDARG00000015247


    ENSEMBL Gene Tree for F8 (if available)
    TreeFam Gene Tree for F8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F8 gene
    DCBLD12  EDIL32  MFGE82  DCBLD22  NRP12  RS12  NRP22  F52  
    11 SIMAP similar genes for F8 using alignment to 52 protein entries:     FA8_HUMAN (see all proteins):
    F8A1    F8C    F8c    SPAG10    MFGE8    F5
    factor V    RS1    CP    HEPHL1    HEPH

    F8 for paralogs           About GeneDecksing



    (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 F8 (see all 2755)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289372941,2,,4
    CHemophilia A (HEMA)4 pathogenic1154132300(-) GATTCA/G/TATGGT 6 Q R L mis10--------
    rs289336821,2,,4
    CHemophilia A (HEMA)4 pathogenic1154132357(-) AATCAA/GTGGCT 4 N S mis1 ese30--------
    rs289336811,2,,4
    CHemophilia A (HEMA)4 pathogenic1154132676(-) TTGATA/GAGACC 4 K E mis1 ese30--------
    rs289336801,2,,4
    CHemophilia A (HEMA)4 pathogenic1154132768(-) TGGACC/GCCTTC 4 P R mis1 ese30--------
    rs289336791,2,,4
    CHemophilia A (HEMA)4 pathogenic1154132786(-) TGTGCA/GCTCAG 4 H R mis1 ese30--------
    rs289336771,2,,4
    CHemophilia A (HEMA)4 pathogenic1154133114(-) CAAAGC/TCTGGG 4 A V mis10--------
    rs289336761,2,,4
    CHemophilia A (HEMA)4 pathogenic1154133139(-) CACCCA/CCTAAA 4 T P mis1 ese30--------
    rs289336751,2,,4
    CHemophilia A (HEMA)4 pathogenic1154133142(-) TGGCAC/TCCACT 4 P S mis1 ese30--------
    rs289336741,2,,4
    CHemophilia A (HEMA)4 pathogenic1154133146(-) CATATA/GGCACC 4 I M mis1 ese30--------
    rs289352031,2,,4
    CHemophilia A (HEMA)4 pathogenic1154156969(-) CATTTA/TTGATG 4 Y F mis10--------

    HapMap Linkage Disequilibrium report for F8 (154064063 - 154255215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for F8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29972CNV Gain17803354
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): F8
    Locus Specific Mutation Databases (LSDB): F8

    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300841   
    OMIM disorders: 306700  
    UniProtKB/Swiss-Prot: FA8_HUMAN, P00451
  • Hemophilia A (HEMA) [MIM:306700]: A disorder of blood coagulation characterized by a permanent tendency
    to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into
    joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
    Note=The disease is caused by mutations affecting the gene represented in this entry. Of particular interest for
    the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients
    (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein
    is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another
    category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most
    mutations are CRM negative, and probably affect the folding and stability of the protein

  • Selected diseases for F8 (see all 167):    
    About MalaCards
    breast reconstruction    mild hemophilia a    symptomatic form of hemophilia a in female carriers    moderately severe hemophilia a
    type 3 von willebrand disease    hemophilia    factor viii deficiency    acquired hemophilia
    severe hemophilia a    cardiac tamponade    type 2n von willebrand disease    lymphangiosarcoma
    type 2a von willebrand disease    type 2m von willebrand disease    thrombosis, hyperhomocysteinemic    argentine hemorrhagic fever
    von willebrand's disease    hemarthrosis    thrombophlebitis    swyer syndrome

    Selected diseases from the University of Copenhagen DISEASES database for F8 (see all 27):
    Von Willebrand's disease     Factor XI deficiency     Factor VIII deficiency     Hemophilia B
    Thrombophilia     Sarcoma     Vascular disease     Vascular cancer
    Hemangioma     Arthropathy     Hepatitis     Lymphangioma
    Thrombocytopenia     Acquired immunodeficiency syndrome     Kaposi's sarcoma     Hepatitis A
    Carcinoma     Heart disease     Hypersensitivity reaction type II disease     Lymphangiosarcoma

    F8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for F8 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemophilia a 97.6 760 19509468 (4), 19937483 (4), 16038719 (4), 16522813 (4) (see all 99)
    von willebrand disease 94 100 8236134 (3), 1918030 (2), 12353065 (2), 2124499 (1) (see all 83)
    f5f8d 86.8 19 19598067 (2), 19141160 (2), 17610559 (2), 16044454 (1) (see all 10)
    coagulopathy 86.7 154 10444282 (2), 8500791 (1), 9335047 (1), 10773919 (1) (see all 99)
    bleeding 79.5 342 19143924 (4), 1746594 (3), 11554946 (3), 15166918 (3) (see all 99)
    hemarthrosis 75.7 10 19473418 (2), 17212730 (1), 19995408 (1), 15569163 (1) (see all 8)
    bleeding tendency 75.4 11 19763351 (1), 10517121 (1), 19506363 (1), 10608727 (1) (see all 10)
    hemophilia b 73.4 10 17596134 (1), 10498242 (1), 10517121 (1), 16051741 (1) (see all 8)
    thrombophilia 69 27 18304616 (2), 18766260 (2), 15735796 (2), 17059421 (1) (see all 18)
    inherited coagulation disorders 68.3 5 11735604 (1), 10446919 (1), 16670069 (1), 12109144 (1)

    GeneTests: F8
    GeneReviews: F8
    Genetic Association Database (GAD): F8
    Human Genome Epidemiology (HuGE) Navigator: F8 (109 documents)

    Export disorders for F8 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 F8 gene, integrated from 10 sources (see all 1565):
    (articles sorted by number of sources associating them with F8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA. (PubMed id 3935400)1, 2, 3 Truett M.A.... Ezban M. (DNA 1985)
    2. Molecular cloning of a cDNA encoding human antihaemophilic factor. (PubMed id 6438528)1, 2, 3 Toole J.J....Hewick R.M. (Nature 1984)
    3. A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. (PubMed id 10910910)1, 2, 9 Jacquemin M.... Saint-Remy J.-M.R. (Blood 2000)
    4. Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis. (PubMed id 16732372)1, 4, 9 Nossent A.Y....Rosendaal F.R. (Thromb. Haemost. 2006)
    5. Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. (PubMed id 16805874)1, 2, 9 Cai X.-H....Wang H.-L. (J. Thromb. Haemost. 2006)
    6. Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. (PubMed id 19740093)1, 4, 9 Coppola A....Di Minno G. (J. Thromb. Haemost. 2009)
    7. The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. (PubMed id 18371163)1, 4, 9 Ma G.C....Shen M.C. (Haemophilia 2008)
    8. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)1, 4, 9 Tirado I....Fontcuberta J. (Thromb. Haemost. 2005)
    9. Intensive peri-operative use of factor VIII and the Arg593--&gt;Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A. (PubMed id 19548904)1, 4, 9 Eckhardt C.L....Fijnvandraat K. (J. Thromb. Haemost. 2009)
    10. The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. (PubMed id 18387975)1, 4, 9 Margaglione M....Mannucci P.M. (Haematologica 2008)

    (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: 2157 HGNC: 3546 AceView: F8 Ensembl:ENSG00000185010 euGenes: HUgn2157
    ECgene: F8 Kegg: 2157 H-InvDB: F8

    (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 F8 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Factor_VIII
    HAMStershttp://hadb.org.uk/WebPages/Main/main.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F8[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/f8/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F8 gene:
    Search GeneIP for patents involving F8

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



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