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F5 Gene

protein-coding   GIFtS: 67
GCID: GC01M169481

Coagulation Factor V (Proaccelerin, Labile Factor)

  See F5-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 V (Proaccelerin, Labile Factor)1 2     FVL2
Activated Protein C Cofactor2 3     PCCF2
Proaccelerin, Labile Factor2 3     Coagulation Factor V2
RPRGL12 5     Coagulation Factor V Jinjiang A2 Domain2
THPH22 5     Factor V Leiden2

External Ids:    HGNC: 35421   Entrez Gene: 21532   Ensembl: ENSG000001987347   OMIM: 6123095   UniProtKB: P122593   

Export aliases for F5 gene to outside databases

Previous GC identifers: GC01M167112 GC01M165134 GC01M166179 GC01M166670 GC01M166215 GC01M167750 GC01M140703


(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 F5 Gene:
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is
converted to the active form by the release of the activation peptide by thrombin during coagulation. This
generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a
cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in
this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of
thrombophilia, which is known as activated protein C resistance. (provided by RefSeq, Oct 2008)

GeneCards Summary for F5 Gene:
F5 (coagulation factor V (proaccelerin, labile factor)) is a protein-coding gene. Diseases associated with F5 include retinal vein occlusion, and retinal artery occlusion. GO annotations related to this gene include copper ion binding. An important paralog of this gene is DCBLD1.

UniProtKB/Swiss-Prot: FA5_HUMAN, P12259
Function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of
factor Xa that results in the activation of prothrombin to thrombin

Gene Wiki entry for F5 (Factor V) Gene

PharmGKB "VIP" summary for F5


(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_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the F5 gene promoter:
         STAT5B   TBP   NF-1   NF-1/L   C/EBPbeta   PPAR-gamma1   IRF-7A   Sox9   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF5 promoter sequence
   Search Chromatin IP Primers for F5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F5


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

Entrez Gene cytogenetic band: 1q23   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q23

F5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M169481:  view genomic region     (about GC identifiers)

Start:
169,481,192 bp from pter      End:
169,555,826 bp from pter
Size:
74,635 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FA5_HUMAN, P12259 (See protein sequence)
Recommended Name: Coagulation factor V precursor  
Size: 2224 amino acids; 251703 Da
Subunit: Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently
bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5
Sequence caution: Sequence=ABD23003.1; Type=Erroneous gene model prediction; Sequence=CAI23065.1; Type=Erroneous
gene model prediction;
Selected PDB 3D structures from and Proteopedia for F5 (see all 8):
1CZS (3D)        1CZT (3D)        1CZV (3D)        1FV4 (3D)        1Y61 (3D)        3P6Z (3D)    
Secondary accessions: A8K6E8 Q14285 Q2EHR5 Q5R346 Q5R347 Q6UPU6 Q8WWQ6

Explore the universe of human proteins at neXtProt for F5: NX_P12259

Explore proteomics data for F5 at MOPED

Post-translational modifications: 

  • Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the
    N-terminus and a light chain at the C-terminus)1
  • Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity1
  • Activated protein C inactivates factor V and factor Va by proteolytic degradation1
  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Asn51, Asn55, Asn239, Asn297, Asn382, Asn460, Asn468, Asn554, Asn741, Asn752,
                                 Asn760, Asn776, Asn782, Thr804, Thr805, Asn821, Asn938, Asn977, Asn1074, Asn1083 (see all 28)
  • Modification sites at PhosphoSitePlus

  • See F5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000121.2  
    ENSEMBL proteins: 
     ENSP00000356771   ENSP00000356770   ENSP00000439664  
    Reactome Protein details: P12259

    F5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for F5

     
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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 6):
     IPR024715 Factor_5/8
     IPR011707 Cu-oxidase_3
     IPR008979 Galactose-bd-like
     IPR008972 Cupredoxin
     IPR002355 Cu_oxidase_Cu_BS

    Graphical View of Domain Structure for InterPro Entry P12259

    ProtoNet protein and cluster: P12259

    1 Blocks protein domain: IPB000421 Coagulation factor 5/8 type C domain (FA58C)

    UniProtKB/Swiss-Prot: FA5_HUMAN, P12259
    Domain: Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats
    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


    Find genes that share domains with F5           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: FA5_HUMAN, P12259
    Function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of
    factor Xa that results in the activation of prothrombin to thrombin
    Enzyme regulation: Inhibited by SERPINA5

         Genatlas biochemistry entry for F5:
    coagulation factor V (proaccelerin,labile factor),cofactor in the activation of prothrombin (F2) by activated
    F10,colocalized and complexed with merin multimerin in platelets alpha-granules

         Gene Ontology (GO): 3 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 IPI2844223
         
    Find genes that share ontologies with F5           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for F5):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  nervous system 

    Find genes that share phenotypes with F5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out F5tm1Dgi for F5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for F5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for F5

    miRNA
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    miRTarBase miRNAs that target F5:
    hsa-mir-155-5p (MIRT020806)

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    Selected qRT-PCR Assays for microRNAs that regulate F5 (see all 17):
    hsa-miR-2052 hsa-miR-607 hsa-miR-4272 hsa-miR-522 hsa-miR-578 hsa-miR-29b-1* hsa-miR-3143 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidF5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for F5
    Predesigned siRNA for gene silencing in human, mouse, rat F5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: F5 (NM_001662)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat F5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F5


    (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
    FA5_HUMAN, P12259: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0031091platelet alpha granule ----
    GO:0031093platelet alpha granule lumen TAS--

    Find genes that share ontologies with F5           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 F5 About    
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Common Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Prothrombin Activation Pathway0.00
    Blood Clotting Cascade0.42
    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


    Find genes that share SuperPaths with F5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F5
        Blood Coagulation Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F5
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    2 BioSystems Pathways for F5
        Blood Clotting Cascade
    Complement and Coagulation Cascades

    2 Reactome Pathways for F5
        Platelet degranulation
    Common Pathway


    1 Kegg Pathway  (Kegg details for F5):
        Complement and coagulation cascades

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F5
    Interactions:

        GeneGlobe Interaction Network for F5

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

    Selected Interacting proteins for F5 (P122593 ENSP000003567714) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALRP277973, ENSP000003208664I2D: score=2 STRING: ENSP00000320866
    F2P007343, ENSP000003085414I2D: score=2 STRING: ENSP00000308541
    MMRN1Q132013, ENSP000002647904I2D: score=1 STRING: ENSP00000264790
    PROCP040703, ENSP000002340714I2D: score=1 STRING: ENSP00000234071
    PROS1P072253, ENSP000003777834I2D: score=2 STRING: ENSP00000377783
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007155cell adhesion IEA--
    GO:0007596blood coagulation TAS--
    GO:0008015blood circulation IEA--
    GO:0030168platelet activation TAS--

    Find genes that share ontologies with F5           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 F5 (FA5)

    2 HMDB Compounds for F5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    CopperCu (see all 2)7440-50-8--

    2 DrugBank Compounds for F5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6targetmultitarget11752352 12004250 11893230 12030642 11236773 11714212
    Phenylmercury-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for F5 gene (see all 134)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xigris 86.6 29 12296618 (2), 16923083 (2), 11811722 (1), 15232511 (1) (see all 26)
    fibrinogen 82.2 352 9081677 (5), 15217806 (4), 10831587 (3), 15306149 (3) (see all 99)
    heparin 75.9 153 9169495 (8), 16775572 (3), 10595639 (3), 1315738 (3) (see all 99)
    homocysteine 73.8 140 11083858 (5), 15175797 (3), 2154269 (2), 10847236 (2) (see all 99)
    desogestrel 70.3 17 11859850 (5), 11257242 (3), 10928461 (2), 7500751 (1) (see all 8)
    gamma-carboxyglutamic acid 68.7 13 1498334 (2), 1905953 (1), 8180219 (1), 7999756 (1) (see all 8)
    gestodene 65.4 1 11102598 (1)
    hirudin 60.9 26 1590777 (2), 2168225 (1), 7679452 (1), 10358710 (1) (see all 22)
    warfarin 60.3 26 16889993 (2), 9471929 (1), 19190829 (1), 8701423 (1) (see all 21)
    phospholipid 60.2 67 8456424 (4), 8206891 (2), 1412190 (2), 9731110 (2) (see all 49)

    5 PharmGKB related drug/compound annotations for F5 gene    About this table
    Drug/compound PharmGKB Annotation
    eltrombopag
    ethinyl estradiol
    hormonal contraceptives for systemic use  CA  
    norelgestromin
    tamoxifen



    Find genes that share compounds with F5           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 F5 gene: 
    NM_000130.4  

    Unigene Cluster for F5:

    Coagulation factor V (proaccelerin, labile factor)
    Hs.30054  [show with all ESTs]
    Unigene Representative Sequence: NM_000130
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495481 ENST00000367797(uc001ggg.1 uc010plr.1) ENST00000367796
    ENST00000546081
    miRNA
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    hsa-miR-2052 hsa-miR-607 hsa-miR-4272 hsa-miR-522 hsa-miR-578 hsa-miR-29b-1* hsa-miR-3143 hsa-miR-3163
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      QuantiFast Probe-based Assays in human, mouse, rat F5

    Additional mRNA sequence: 

    AJ297254.1 AJ297255.1 AK226079.1 AK291613.1 AK300469.1 M14335.1 M16967.1 M94010.1 

    4 DOTS entries:

    DT.455722  DT.100780251  DT.92428603  DT.95293061 

    Selected AceView cDNA sequences (see all 135):

    CA395167 AW294470 H70968 AL552613 BP366398 CA393309 AA344458 T28497 
    CA390389 CB162253 BE219652 AV650378 AU279657 AI306468 AI796803 CR626632 
    AI692757 AW294101 AV650215 AW291519 AV654769 CA395604 AA780062 AA676237 

    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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    F5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATCAAAGT
    F5 Expression
    About this image


    F5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Veins
    F5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.30054

    UniProtKB/Swiss-Prot: FA5_HUMAN, P12259
    Tissue specificity: Plasma

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F5

    (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 F5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F51 , 5 coagulation factor V1, 5 78.53(n)1
    72.58(a)1
      1 (71.46 cM)5
    140671  NM_007976.21  NP_032002.11 
     1641518385 
    chicken
    (Gallus gallus)
    Aves F51 coagulation factor V (proaccelerin, labile factor) 63.68(n)
    56.41(a)
      374052  XM_001231900.3  XP_001231901.3 
    lizard
    (Anolis carolinensis)
    Reptilia F56
    coagulation factor V (proaccelerin, labile factor)...
    43(a)
    1 ↔ 1
    3(175701753-175761188)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f51 coagulation factor V (proaccelerin, labile factor) 61.19(n)
    56.76(a)
      100135376  XM_002935774.2  XP_002935820.2 
    zebrafish
    (Danio rerio)
    Actinopterygii f51 coagulation factor V 56.94(n)
    50.14(a)
      327320  NM_001007208.2  NP_001007209.2 


    ENSEMBL Gene Tree for F5 (if available)
    TreeFam Gene Tree for F5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F5 gene
    DCBLD12  EDIL32  MFGE82  DCBLD22  F82  NRP12  RS12  NRP22  
    9 SIMAP similar genes for F5 using alignment to 6 protein entries:     FA5_HUMAN (see all proteins):
    F8    F8C    RS1    MFGE8    F8c    SPAG10
    EDIL3    CP    HEPH

    Find genes that share paralogs with F5           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 F5 (see all 2055)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1182039061,2,,4
    CThrombophilia due to activated protein C resistance (THPH2)4 pathogenic1176076899(-) AACCAG/CGAATC 2 /T /R mis11Minor allele frequency- C:0.00NA 4550
    VAR_0327004
    Factor V deficiency (FA5D)4--see VAR_0327002 Y C mis40--------
    VAR_0326984
    Thrombophilia due to activated protein C resistance (THPH2)4--see VAR_0326982 I T mis40--------
    VAR_0173294
    Thrombophilia due to activated protein C resistance (THPH2)4--see VAR_0173292 R H mis40--------
    VAR_0358174
    A colorectal cancer sample4--see VAR_0358172 S A mis40--------
    VAR_0327014
    Factor V deficiency (FA5D)4--see VAR_0327012 R C mis40--------
    VAR_0326994
    Thrombophilia due to activated protein C resistance (THPH2)4--see VAR_0326992 C R mis40--------
    rs1182039071,2
    Cpathogenic1176052406(-) GGCCTA/GCTACT 2 Y C mis11Minor allele frequency- G:0.00EU 1323
    rs60251,2,,4
    C,F,Hpathogenic1176071410(-) CAGGCA/GAGGAA 2 Q R mis140Minor allele frequency- T:0.00MN NS EA NA WA CSA EU 9637
    rs1182039051,2,,4
    Cpathogenic1176076900(-) AAACCA/GGGAAT 2 R G mis10--------

    HapMap Linkage Disequilibrium report for F5 (169481192 - 169555826 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for F5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270550CNV Insertion20981092
    esv272697CNV Insertion20981092
    esv2518089CNV Insertion19546169
    dgv405n71CNV Loss21882294
    nsv872534CNV Loss21882294
    nsv831871CNV Loss17160897
    nsv872535CNV Gain21882294
    nsv872533CNV Gain21882294
    esv22143CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): F5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing F5
    DNA2.0 Custom Variant and Variant Library Synthesis for F5

    (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.)
    About This Section

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    OMIM gene information: 612309   
    OMIM disorders: 227400  188055  601367  600880  614389  
    UniProtKB/Swiss-Prot: FA5_HUMAN, P12259
  • Factor V deficiency (FA5D) [MIM:227400]: A blood coagulation disorder leading to an hemorrhagic diathesis
    known as parahemophilia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]: A hemostatic disorder due to
    defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to
    activated protein C resulting in tendency to thrombosis. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Budd-Chiari syndrome (BDCHS) [MIM:600880]: A syndrome caused by obstruction of hepatic venous outflow
    involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally
    caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in
    the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari
    syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and
    thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome
    is a rare but typical complication in patients with polycythemia vera. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural
    tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes,
    resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of
    heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Pregnancy loss, recurrent, 1 (RPRGL1) [MIM:614389]: A common complication of pregnancy, resulting in
    spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of
    conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous
    abortions. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for F5 (see all 96):    
    About MalaCards
    retinal vein occlusion    retinal artery occlusion    retinal vascular occlusion    central retinal vein occlusion
    inferior vena cava interruption    bleeding disorder, east texas type    factor v r2 mutation thrombophilia    f5-related budd-chiari syndrome
    thrombophilia due to factor v leiden    factor v leiden thrombophilia    cerebral sinovenous thrombosis    factor v deficiency
    thrombophilia due to activated protein c resistance    factor v cambridge thrombophilia    hepatic vein thrombosis    pregnancy loss, recurrent 1
    intracranial sinus thrombosis    thrombophlebitis    anterior ischemic optic neuropathy    bone marrow necrosis

    Selected diseases from the University of Copenhagen DISEASES database for F5 (see all 21):
    Thrombophilia     Factor V deficiency     Protein C deficiency     Pulmonary embolism
    Blood protein disease     Hyperhomocysteinemia     Placental abruption     Antiphospholipid syndrome
    Antithrombin III deficiency     Cerebrovascular accident     Factor VIII deficiency     Hypertension
    Central retinal vein occlusion     Retinal vein occlusion     Myocardial infarction     Patent foramen ovale
    Liver disease     Thrombocytopenia     Intracranial thrombosis     Lupus erythematosus

    Find genes that share disorders with F5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for F5 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apc resistance 98.6 1994 10499894 (12), 9156566 (9), 10871461 (9), 9240602 (7) (see all 99)
    thrombophilia 96.8 660 9820002 (3), 9350176 (3), 9577282 (3), 16256098 (3) (see all 99)
    venous thrombosis 93.3 735 9471929 (7), 10477778 (6), 16758522 (6), 17200768 (6) (see all 99)
    protein s deficiency 93.1 178 15706484 (3), 9746774 (3), 9241737 (2), 9607123 (2) (see all 99)
    thrombosis 91.8 797 12180730 (6), 8592550 (5), 8774498 (4), 9922996 (4) (see all 99)
    thromboembolism 91.6 515 9092318 (8), 12468175 (6), 10215560 (6), 11734673 (5) (see all 99)
    protein c deficiency 90.8 140 7562967 (5), 9128811 (3), 8943855 (3), 14707707 (2) (see all 99)
    antithrombin iii deficiency 86.2 53 17710975 (2), 12192310 (1), 15919499 (1), 18685442 (1) (see all 44)
    f5f8d 85.3 24 18056485 (2), 12717434 (2), 18590741 (1), 17287640 (1) (see all 21)
    coagulopathy 84.8 131 8429648 (3), 9531249 (3), 11700394 (2), 10229050 (2) (see all 99)

    Genatlas disease: F5
    parahemophilia

    GeneTests: F5
    GeneReviews: F5
    Genetic Association Database (GAD): F5
    Human Genome Epidemiology (HuGE) Navigator: F5 (908 documents)

    Export disorders for F5 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)
    About This Section

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    PubMed articles for F5 gene, integrated from 10 sources (see all 3636):
    (articles sorted by number of sources associating them with F5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in coagulation factors in women with unexplained late fetal loss. (PubMed id 11018168)1, 2, 4, 9 Martinelli I.... Mannucci P.M. (N. Engl. J. Med. 2000)
    2. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)1, 2, 4 Casas J.P.... Sharma P. (Arch. Neurol. 2004)
    3. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. (PubMed id 8713778)1, 2, 4 Lunghi B....Bernardi F. (Thromb. Haemost. 1996)
    4. Effect of factor V Leiden polymorphism in severe sepsis and on treatment with recombinant human activated protein C. (PubMed id 15118525)1, 4, 9 Yan S.B. and Nelson D.R. (Crit. Care Med. 2004)
    5. Factor V Leiden: is it the chief contributor to activated protein C resistance in Asian-Indian patients with deep vein thrombosis? (PubMed id 18342013)1, 4, 9 Biswas A....Saxena R. ( international journal of clinical chemistry 2008)
    6. Factor V Leiden mutation and its relation to left atrial thrombus in chronic nonrheumatic atrial fibrillation. (PubMed id 12906030)1, 4, 9 GAPkAse M....Kaplan S. (Jpn Heart J 2003)
    7. Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus. (PubMed id 11529632)1, 4, 9 Topaloglu R....Ozcelik T. (Clin. Rheumatol. 2001)
    8. Risk of venous thromboembolism in carriers of factor V Leiden with a concomitant inherited thrombophilic defect: a retrospective analysis. (PubMed id 11734673)1, 4, 9 Meinardi J.R....van der Meer J. (amp 2001)
    9. Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. (PubMed id 8204629)1, 2, 9 Pittman D.D....Kaufman R.J. (Biochemistry 1994)
    10. Activated protein C resistance and factor V Leiden in Mexico. (PubMed id 18160617)1, 4, 9 Majluf-Cruz A....GarcA-a-ChA!vez J. (Clin. Appl. Thromb. Hemost. 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)
    About This Section

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    Entrez Gene: 2153 HGNC: 3542 AceView: F5 Ensembl:ENSG00000198734 euGenes: HUgn2153
    ECgene: F5 Kegg: 2153 H-InvDB: F5

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for F5 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Factor_V
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F5[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/f5/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F5 gene:
    Search GeneIP for patents involving F5

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



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