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    F2 coagulation factor II (thrombin) [ Homo sapiens (human) ]

    Gene ID: 2147, updated on 26-Jul-2015
    Official Symbol
    F2provided by HGNC
    Official Full Name
    coagulation factor II (thrombin)provided by HGNC
    Primary source
    HGNC:HGNC:3535
    See related
    Ensembl:ENSG00000180210; HPRD:01488; MIM:176930; Vega:OTTHUMG00000150344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PT; THPH1; RPRGL2
    Summary
    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. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014]
    Orthologs
    Location:
    11p11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (46719192..46739506)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46740743..46761056)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 1 Neighboring gene zinc finger protein 408 Neighboring gene cytoskeleton associated protein 5 Neighboring gene microRNA 5582 Neighboring gene small nucleolar RNA, C/D box 67

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ischemic stroke
    MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
    Compare labs
    Pregnancy loss, recurrent, susceptibility to, 2
    MedGen: C3280672 OMIM: 614390 GeneReviews: Not available
    Compare labs
    Prothrombin deficiency, congenital
    MedGen: C0020640 OMIM: 613679 GeneReviews: Not available
    Compare labs
    Thrombophilia Compare labs

    NHGRI GWAS Catalog

    Description
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of coagulation factor II (prothrombin; F2) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Thrombin activates HIV-1 gp120/gp41 and enhances virus-cell fusion PubMed
    env Cleavage at amino acid position R315 of HIV-1 gp120 by thrombin is enhanced by soluble CD4 binding PubMed
    Envelope surface glycoprotein gp160, precursor env Thrombin enhances the fusion mediated by two R5-tropic HIV-1 gp160 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    growth factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thrombospondin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cytosolic calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    multicellular organismal development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of astrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of fibrinolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of platelet activation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-glutamic acid carboxylation TAS
    Traceable Author Statement
    more info
     
    platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    positive regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    proteolysis TAS
    Traceable Author Statement
    more info
     
    regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    response to inactivity IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    prothrombin
    Names
    prepro-coagulation factor II
    prothrombin B-chain
    serine protease
    NP_000497.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008953.1 RefSeqGene

      Range
      5001..25314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000506.3NP_000497.1  prothrombin preproprotein

      See identical proteins and their annotated locations for NP_000497.1

      Status: REVIEWED

      Source sequence(s)
      AK312965, CB156997, DB183734
      Consensus CDS
      CCDS31476.1
      UniProtKB/Swiss-Prot
      P00734
      Related
      ENSP00000308541, OTTHUMP00000197117, ENST00000311907, OTTHUMT00000317706
      Conserved Domains (5) summary
      pfam09396
      Location:315363
      Thrombin_light; Thrombin light chain
      smart00020
      Location:363613
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2588
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00108
      Location:105186
      KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
      cd00190
      Location:364616
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      46719192..46739506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_428840.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      46739149..46759462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)