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

    Gene ID: 2147, updated on 27-Nov-2024

    Summary

    Official Symbol
    F2provided by HGNC
    Official Full Name
    coagulation factor II, thrombinprovided by HGNC
    Primary source
    HGNC:HGNC:3535
    See related
    Ensembl:ENSG00000180210 MIM:176930; AllianceGenome:HGNC:3535
    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
    This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Restricted expression toward liver (RPKM 385.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46719213..46739506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46875235..46896332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46740763..46761056)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46715957-46716456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4684 Neighboring gene zinc finger protein 408 Neighboring gene small nucleolar RNA SNORD67 Neighboring gene cytoskeleton associated protein 5 Neighboring gene microRNA 5582

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital prothrombin deficiency
    MedGen: C0272317 OMIM: 613679 GeneReviews: Not available
    Compare labs
    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
    Thrombophilia due to thrombin defect
    MedGen: C3160733 OMIM: 188050 GeneReviews: Prothrombin Thrombophilia
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipopolysaccharide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thrombospondin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytolysis by host of symbiont cells IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fibrinolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ligand-gated ion channel signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of astrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine production involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibrinolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of platelet activation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neutrophil-mediated killing of gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor signaling pathway via JAK-STAT NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to wounding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thrombin-activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    prothrombin
    Names
    prepro-coagulation factor II
    prothrombin B-chain
    thrombin factor II
    NP_000497.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4974..25316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_551

    mRNA and Protein(s)

    1. NM_000506.5 → NP_000497.1  prothrombin preproprotein

      See identical proteins and their annotated locations for NP_000497.1

      Status: REVIEWED

      Source sequence(s)
      AK303747, AK312965, BC051332
      Consensus CDS
      CCDS31476.1
      UniProtKB/Swiss-Prot
      B2R7F7, B4E1A7, P00734, Q4QZ40, Q53H04, Q53H06, Q69EZ7, Q7Z7P3, Q9UCA1
      UniProtKB/TrEMBL
      E9PIT3
      Related
      ENSP00000308541.5, ENST00000311907.10
      Conserved Domains (6) summary
      smart00020
      Location:363 → 613
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:25 → 88
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      smart00130
      Location:211 → 293
      KR; Kringle domain
      cd00108
      Location:105 → 186
      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:364 → 616
      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 ...
      pfam09396
      Location:317 → 363
      Thrombin_light; Thrombin light chain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46719213..46739506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46875235..46896332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001311257.2: Suppressed sequence

      Description
      NM_001311257.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.