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F2 Gene

protein-coding   GIFtS: 74
GCID: GC11P046740

Coagulation Factor II (Thrombin)

  See F2-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 II (Thrombin)1 2     prothrombin2
Prepro-Coagulation Factor II1 2     Prothrombin B-Chain2
EC 3.4.21.53 8     Serine Protease2
RPRGL22 5     Coagulation Factor II3
THPH12 5     EC 3.4.218
PT2     

External Ids:    HGNC: 35351   Entrez Gene: 21472   Ensembl: ENSG000001802107   OMIM: 1769305   UniProtKB: P007343   

Export aliases for F2 gene to outside databases

Previous GC identifers: GC11M048740 GC11P047618 GC11P046772 GC11P046705 GC11P046697 GC11P046446


(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 F2 Gene:
Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade
which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity
during development and postnatal life. Mutations in F2 leads to various forms of thrombosis and
dysprothrombinemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for F2 Gene:
F2 (coagulation factor II (thrombin)) is a protein-coding gene. Diseases associated with F2 include alcoholic hepatitis, and prothrombin-related thrombophilia. GO annotations related to this gene include growth factor activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
Function: Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V,
VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and
wound healing

Gene Wiki entry for F2 (Thrombin) 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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the F2 gene promoter:
         CREB   PPAR-gamma1   AP-1   deltaCREB   ATF-2   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF2 promoter sequence
   Search Chromatin IP Primers for F2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F2


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

Entrez Gene cytogenetic band: 11p11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

F2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P046740:  view genomic region     (about GC identifiers)

Start:
46,740,730 bp from pter      End:
46,761,056 bp from pter
Size:
20,327 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., 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: THRB_HUMAN, P00734 (See protein sequence)
Recommended Name: Prothrombin precursor  
Size: 622 amino acids; 70037 Da
Subunit: Heterodimer (named alpha-thrombin) of a light and a heavy chain; disulfide-linked. Forms a heterodimer
with SERPINA5
Miscellaneous: Prothrombin is activated on the surface of a phospholipid membrane that binds the amino end of
prothrombin and factors Va and Xa in Ca-dependent interactions; factor Xa removes the activation peptide and
cleaves the remaining part into light and heavy chains. The activation process starts slowly because factor V
itself has to be activated by the initial, small amounts of thrombin
Miscellaneous: It is not known whether 1 or 2 smaller activation peptides, with additional cleavage after Arg-314,
are released in natural blood clotting
Miscellaneous: Thrombin can itself cleave the N-terminal fragment (fragment 1) of the prothrombin, prior to its
activation by factor Xa
Miscellaneous: The cleavage after Arg-198, observed in vitro, does not occur in plasma
Selected PDB 3D structures from and Proteopedia for F2 (see all 348):
1A2C (3D)        1A3B (3D)        1A3E (3D)        1A46 (3D)        1A4W (3D)        1A5G (3D)    
Secondary accessions: B2R7F7 B4E1A7 Q4QZ40 Q53H04 Q53H06 Q7Z7P3 Q9UCA1

Explore the universe of human proteins at neXtProt for F2: NX_P00734

Explore proteomics data for F2 at MOPED

Post-translational modifications: 

  • The gamma-carboxyglutamyl residues, which bind calcium ions, result from the carboxylation of glutamyl residues by
    a microsomal enzyme, the vitamin K-dependent carboxylase. The modified residues are necessary for the
    calcium-dependent interaction with a negatively charged phospholipid surface, which is essential for the
    conversion of prothrombin to thrombin1
  • N-glycosylated. N-glycan heterogeneity at Asn-121: Hex3HexNAc3 (minor), Hex4HexNAc3 (minor) and Hex5HexNAc4
    (major). At Asn-143: Hex4HexNAc3 (minor) and Hex5HexNAc4 (major)1
  • Glycosylation2 at Asn121, Asn143, Asn416
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for F2 (P00734) (see all 15)
     CRNPDGD  GNLEREC  VLTAAHC  WVLTAAH 


    See F2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000497.1  
    ENSEMBL proteins: 
     ENSP00000308541   ENSP00000433907   ENSP00000387413  
    Reactome Protein details: P00734

    F2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Enzo Life Sciences proteins for F2
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    OriGene Protein Over-expression Lysate for F2
    OriGene MassSpec for F2
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    Novus Biologicals F2 Proteins
    Novus Biologicals F2 Lysates
    Sino Biological Recombinant Protein for F2
    Sino Biological Cell Lysate for F2
    ProSpec Recombinant Protein for F2
    Cloud-Clone Corp. Proteins for F2

     
    Search eBioscience for Proteins for F2 

    F2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of F2
    R&D Systems Antibodies for F2 (Coagulation Factor II/Thrombin)
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    Novus Biologicals F2 Antibodies
    Abcam antibodies for F2
    Cloud-Clone Corp. Antibodies for F2
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    LSBio Antibodies in human, mouse, rat for F2

    F2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for F2
    Cloud-Clone Corp. CLIAs for F2
    Search eBioscience for ELISAs for F2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 11):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR001314 Peptidase_S1A
     IPR018056 Kringle_CS
     IPR001254 Peptidase_S1
     IPR003966 Prothrombin/thrombin

    Graphical View of Domain Structure for InterPro Entry P00734

    ProtoNet protein and cluster: P00734

    Selected Blocks protein domains (see all 6):
    IPB000001 Kringle
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002383 Coagulation factor GLA domain signature


    UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 2 kringle domains
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with F2           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: THRB_HUMAN, P00734
    Function: Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V,
    VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and
    wound healing
    Catalytic activity: Selective cleavage of Arg- -Gly bonds in fibrinogen to form fibrin and release fibrinopeptides
    A and B
    Enzyme regulation: Inhibited by SERPINA5

         Genatlas biochemistry entry for F2:
    coagulation factor II,vitamin K-dependent (prothrombin)

         Enzyme Numbers (IUBMB): EC 3.4.21.51 2 EC 3.4.212

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA12855810
    GO:0005102contributes to receptor binding IPI8626514
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI14691232
         
    Find genes that share ontologies with F2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for F2:
     Decreased homologous recombina  Increased G1 DNA content 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for F2):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  normal  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with F2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for F2: F2tm1Jes F2tm1Sjd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for F2

    miRNA
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    miRTarBase miRNAs that target F2:
    hsa-mir-9-5p (MIRT021414), hsa-mir-1 (MIRT001360), hsa-let-7b-5p (MIRT001622), hsa-mir-16-5p (MIRT001484)

    Block miRNA regulation of human, mouse, rat F2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate F2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat F2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: F2 (NM_013265)
    Sino Biological Human cDNA Clone for F2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for F2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F2


    (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
    THRB_HUMAN, P00734: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    golgi apparatus4
    plasma membrane4
    mitochondrion2
    nucleus2
    cytoskeleton1
    cytosol1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA9639571
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with F2           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 F2 About   (see all 26)  
    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
    Intrinsic Pathway0.00
    Blood Clotting Cascade0.42
    Extrinsic Prothrombin Activation Pathway0.00
    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
    3Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    4Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    5Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57


    Find genes that share SuperPaths with F2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F2
        Blood Coagulation Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F2 (see all 9)
        Endothelin-1 Signaling Pathway
    G12-G13 in Cellular Signaling
    JAK-STAT Pathway
    Thrombin Signaling
    Transendothelial Migration of Leukocytes

    1 GeneGo (Thomson Reuters) Pathway for F2
        Cell adhesion Integrin inside-out signaling

    Selected BioSystems Pathways for F2 (see all 7)
        Blood Clotting Cascade
    Selenium Pathway
    Regulation of Actin Cytoskeleton
    Complement and Coagulation Cascades
    Syndecan-4-mediated signaling events


    Selected Reactome Pathways for F2 (see all 11)
        Peptide ligand-binding receptors
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Intrinsic Pathway
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Platelet Aggregation (Plug Formation)

    2 PharmGKB Pathways for F2
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Warfarin Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for F2):
        Neuroactive ligand-receptor interaction
    Complement and coagulation cascades
    Regulation of actin cytoskeleton

        Pathway & Disease-focused RT2 Profiler PCR Arrays including F2: 
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for F2

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

    Selected Interacting proteins for F2 (P007341, 3 ENSP000003085414) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    THBDP072041, 3, ENSP000003663074EBI-297094,EBI-941422 I2D: score=4 STRING: ENSP00000366307
    SERPIND1P055463, ENSP000002157274I2D: score=3 STRING: ENSP00000215727
    FGAP026713, ENSP000003063614I2D: score=2 STRING: ENSP00000306361
    SERPINB6P352373, ENSP000003383584I2D: score=2 STRING: ENSP00000338358
    SERPING1P051553, ENSP000002784074I2D: score=2 STRING: ENSP00000278407
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IDA7559487
    GO:0006508proteolysis TAS--
    GO:0006953acute-phase response IEA--
    GO:0007166cell surface receptor signaling pathway IDA1672265
    GO:0007275multicellular organismal development TAS9639571

    Find genes that share ontologies with F2           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
       Enzo Life Sciences drugs & compounds for F2
      Browse compounds at ApexBio 

    Browse Tocris compounds for F2 (THRB)

    UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
    Pharmaceutical: The peptide TP508 also known as Chrysalin (Orthologic) could be used to accelerate repair of both
    soft and hard tissues

    Selected DrugBank Compounds for F2 (see all 101)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Argatroban-- 74863-84-6targetinhibitor10608050 10353669 10608016 11752352 10226408 10362188
    Bivalirudin-- 128270-60-0targetinhibitor11833835 11929334 11752352 11923794 11504570 11060732
    Lepirudin-- 120993-53-5targetinhibitor10912644 10505536 11807012 11055889 11752352 11467439
    Proflavine-- 92-62-6targetother/unknown4857231 7837275 7407200 1711542 6722124 10592235
    Antihemophilic FactorAHF (see all 3)--enzymeactivator3099625 2402772 10688826 12463731 1139038
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9target--10499904 10648407 10499905 10498586 11019961
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--12208873 12070133 12062545 12296618 10463819
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetactivator7657295 10469489 2484931 2922761 6867080
    Ximelagatran-- 192939-46-1targetinhibitor17688383 17319469 11752352 17516699 17532684
    Dabigatran etexilateDabigatran (see all 2)211915-06-9targetinhibitor20424539 19756950 17061960

    Selected Novoseek inferred chemical compound relationships for F2 gene (see all 128)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 92.9 1392 2037675 (5), 9746270 (4), 11979291 (4), 16454558 (4) (see all 99)
    warfarin 89.4 481 7586953 (6), 8018915 (5), 14616410 (5), 1562730 (4) (see all 99)
    mnpt 81.9 16 9233567 (1), 10926265 (1), 9365404 (1), 9462248 (1) (see all 12)
    hepaplastin 81.4 35 1766133 (1), 7874270 (1), 7782035 (1), 10590673 (1) (see all 32)
    heparin 80.8 239 2294105 (3), 9863704 (3), 8388583 (3), 1730217 (3) (see all 99)
    ecarin 78.1 28 8165613 (2), 9869177 (2), 7900080 (1), 9211628 (1) (see all 23)
    gamma-carboxyglutamic acid 77.5 103 1699555 (5), 10094467 (4), 2277030 (4), 16413375 (4) (see all 36)
    vitamin k1 75.9 64 9362192 (6), 1325077 (3), 15867043 (2), 17101711 (2) (see all 36)
    s-warfarin 74.9 20 10702890 (2), 17192504 (2), 9839766 (2), 15632222 (1) (see all 15)
    hirudin 72.7 58 11053617 (4), 8349581 (3), 9863704 (3), 7740455 (3) (see all 40)

    1 PharmGKB related drug/compound annotation for F2 gene    About this table
    Drug/compound PharmGKB Annotation
    tamoxifen



    Find genes that share compounds with F2           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 F2 gene: 
    NM_000506.3  

    Unigene Cluster for F2:

    Coagulation factor II (thrombin)
    Hs.655207  [show with all ESTs]
    Unigene Representative Sequence: NM_000506
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311907(uc001ndf.4) ENST00000469189 ENST00000530231 ENST00000442468
    ENST00000490274
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat F2

    Additional mRNA sequence: 

    AJ972449.1 AK222775.1 AK222777.1 AK293326.1 AK303747.1 AK312965.1 AY344793.1 AY344794.1 
    BC051332.1 M33031.1 V00595.1 

    4 DOTS entries:

    DT.115445  DT.40132890  DT.100834099  DT.95360807 

    Selected AceView cDNA sequences (see all 89):

    CB124824 C21032 BC051332 CB148992 R90940 CB147238 CR617821 CB156997 
    T55195 BQ653592 AV661218 CR594467 CB111898 R29758 CB115397 CD608661 
    AW303323 AU121309 AU099063 T70932 T62075 AI190203 R12280 CB161488 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for F2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:              -           -                                                                                       
    SP2:                          -                                                                                       
    SP3:              -                                                                                                   
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for F2

    (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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    F2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTCCGCCT
    F2 Expression
    About this image


    F2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
    F2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655207

    UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
    Tissue specificity: Expressed by the liver and secreted in plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including F2: 
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F2

    (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 F2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F21 , 5 coagulation factor II1, 5 82.47(n)1
    81.98(a)1
      2 (50.63 cM)5
    140611  NM_010168.21  NP_034298.11 
     916253295 
    chicken
    (Gallus gallus)
    Aves F21 coagulation factor II (thrombin) 65.4(n)
    63.04(a)
      395306  NM_204605.1  NP_989936.1 
    lizard
    (Anolis carolinensis)
    Reptilia F26
    coagulation factor II (thrombin)
    62(a)
    1 ↔ 1
    1(43136103-43162495)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.294092 Xenopus laevis transcribed sequence with weak similarity to protein pdb1C5L (H.sapiens) H Chain H, Structural Basis For Selectivity Of A Small Molecule, S1- Binding, Sub-Micromolar Inhibitor Of Urokinase Type Plasminogen Activator less 76.83(n)    48021727 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.268552 Danio rerio cDNA clone MGC66319 IMAGE5601571, complete cds less 76.37(n)    BC055596.1 


    ENSEMBL Gene Tree for F2 (if available)
    TreeFam Gene Tree for F2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F2 gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  HPR2  
    HP2  PROC2  F72  MASP22  
    Selected SIMAP similar genes for F2 using alignment to 6 protein entries:     THRB_HUMAN (see all proteins) (see all similar genes):
    PRRG3    PROS1    PROC1    PRRG1    PRSS21    TMPRSS11B
    F7    PROZ    PROC    HGF    KLK11    HP
    TMPRSS11A    F9    F9 p22    factor IX F9    GAS6    TMPRSS13

    Find genes that share paralogs with F2           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 F2 (see all 526)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626234591,2,,4
    C,FFactor II deficiency (FA2D)4 pathogenic146673207(+) GCTCCG/AAAGGC 2 /K /E mis12Minor allele frequency- A:0.00NA EU 5765
    VAR_0067134
    Factor II deficiency (FA2D)4--see VAR_0067132 R H mis40--------
    VAR_0067124
    Factor II deficiency (FA2D)4--see VAR_0067122 R C mis40--------
    VAR_0067174
    Factor II deficiency (FA2D)4--see VAR_0067172 R W mis40--------
    VAR_0067164
    Factor II deficiency (FA2D)4--see VAR_0067162 R H mis40--------
    VAR_0067194
    Factor II deficiency (FA2D)4--see VAR_0067192 G V mis40--------
    VAR_0067184
    Factor II deficiency (FA2D)4--see VAR_0067182 E A mis40--------
    VAR_0067144
    Factor II deficiency (FA2D)4--see VAR_0067142 M T mis40--------
    VAR_0552324
    Factor II deficiency (FA2D)4--see VAR_0552322 E G mis40--------
    VAR_0067154
    Factor II deficiency (FA2D)4--see VAR_0067152 R C mis40--------

    HapMap Linkage Disequilibrium report for F2 (46740730 - 46761056 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for F2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897322CNV Gain21882294

    Human Gene Mutation Database (HGMD): F2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing F2
    DNA2.0 Custom Variant and Variant Library Synthesis for F2

    (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: 176930   
    OMIM disorders: 613679  188050  601367  614390  
    UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
  • Factor II deficiency (FA2D) [MIM:613679]: A very rare blood coagulation disorder characterized by
    mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II
    levels. Note=The disease is caused by mutations 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
  • Thrombophilia due to thrombin defect (THPH1) [MIM:188050]: A multifactorial disorder of hemostasis
    characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation.
    Note=The disease is caused by mutations affecting the gene represented in this entry. A common genetic variation
    in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels
    and an increased risk of venous thrombosis
  • Pregnancy loss, recurrent, 2 (RPRGL2) [MIM:614390]: 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 F2 (see all 105):    
    About MalaCards
    alcoholic hepatitis    prothrombin-related thrombophilia    binder syndrome    pregnancy loss, recurrent 2
    anterior spinal artery syndrome    hansen's disease    non-a-e hepatitis    thrombophilia due to thrombin defect
    prothrombin deficiency    inherited hypoprothrombinemia    acute fatty liver of pregnancy    viral hepatitis
    hantavirus pulmonary syndrome    wound botulism    hepatic coma    liver cirrhosis
    hypersplenism    multifocal lymphangioendotheliomatosis with thrombocytopenia    esophageal varix    factor vii deficiency

    Selected diseases from the University of Copenhagen DISEASES database for F2 (see all 37):
    Thrombophilia     Liver disease     Vitamin K deficiency hemorrhagic disease     Antiphospholipid syndrome
    Thrombocytopenia     Pulmonary embolism     Protein C deficiency     Hepatocellular carcinoma
    Heart disease     Cerebrovascular accident     Factor X deficiency     Factor VII deficiency
    Esophageal varix     Lupus erythematosus     Hyperhomocysteinemia     Hepatitis B
    Varicose veins     Blood protein disease     Hemophilia B     Placental abruption

    Find genes that share disorders with F2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for F2 gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pt prolonged 92.9 96 11700191 (2), 7703488 (2), 1331349 (1), 8826562 (1) (see all 83)
    coagulopathy 89.9 123 8192064 (2), 17160994 (2), 19444412 (2), 1550472 (1) (see all 99)
    hypoprothrombinemias 87.7 85 9863703 (4), 14629473 (4), 19598065 (4), 11241228 (3) (see all 45)
    thrombophilia 87.1 93 9219324 (2), 16256098 (2), 8171409 (1), 9238178 (1) (see all 83)
    bleeding 85.3 532 8402023 (3), 8259040 (3), 2383699 (3), 19444412 (3) (see all 99)
    thrombosis 84.1 133 10744139 (4), 10974339 (2), 16231514 (2), 17205928 (2) (see all 99)
    disseminated intravascular coagulation 82.2 29 16828603 (2), 11985056 (2), 10410587 (1), 12227006 (1) (see all 27)
    dysprothrombinemia 81.1 5 1334372 (2), 11341500 (1), 15039280 (1), 9490687 (1)
    vitamin k deficiency 80.8 28 2277030 (2), 11338219 (1), 11787707 (1), 10870812 (1) (see all 23)
    venous thrombosis 80.7 87 8339409 (3), 17059428 (3), 9364981 (3), 12871361 (2) (see all 70)

    GeneTests: F2
    GeneReviews: F2
    Genetic Association Database (GAD): F2
    Human Genome Epidemiology (HuGE) Navigator: F2 (697 documents)

    Export disorders for F2 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 F2 gene, integrated from 10 sources (see all 4391):
    (articles sorted by number of sources associating them with F2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. (PubMed id 11506076)1, 2, 4 Pihusch R.... Thaler C.J. (Am. J. Reprod. Immunol. 2001)
    3. G20210A prothrombin gene polymorphism and prothrombin activity in subjects with or without angiographically documented coronary artery disease. (PubMed id 11369682)1, 4, 9 Russo C....Corrocher R. (Circulation 2001)
    4. Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. (PubMed id 12454577)1, 4, 9 Kader H.A....Treem W.R. (J. Pediatr. Gastroenterol. Nutr. 2002)
    5. Elevated prothrombin is a risk factor for cerebral arterial ischemia in young adults. (PubMed id 12140089)1, 4, 9 GA^mez Garcia E.B....Dippel D.W. (Clin Neurol Neurosurg 2002)
    6. Risk factors for failure of heparin thromboprophylaxis in patients with acute traumatic spinal cord injury. (PubMed id 19853891)1, 4, 9 Rubin-Asher D....Lubetsky A. (Thromb. Res. 2010)
    7. Prevalence of factor V Leiden, prothrombin and methylene tetrahydrofolate reductase mutations in women with adverse pregnancy outcomes in Lebanon. (PubMed id 17000243)1, 4, 9 Zahed L.F....Nassar A.H. (Am. J. Obstet. Gynecol. 2006)
    8. Combined factor V Leiden and prothrombin genotyping in patients presenting with thromboembolic episodes. (PubMed id 11151062)1, 4, 9 Friedline J.A....Crisan D. (amp 2001)
    9. Thrombotic genetic risk factors and warfarin pharmacogenetic variants in SALo Miguel's healthy population (Azores). (PubMed id 19538716)1, 4, 9 Branco C.C....Mota-Vieira L. (Thromb J 2009)
    10. Frequency of thrombophilia-related genetic variations in patients with idiopathic pulmonary embolism in an urban emergency department. (PubMed id 16574759)1, 4, 9 Kruse L....Kline J.A. (Clin. Chem. 2006)

    (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: 2147 HGNC: 3535 AceView: F2 Ensembl:ENSG00000180210 euGenes: HUgn2147
    ECgene: F2 Kegg: 2147 H-InvDB: F2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for F2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for F2 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Thrombin
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F2[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/f2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F2 gene:
    Search GeneIP for patents involving F2

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



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