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

Gene ID: 2147, updated on 11-Jun-2021

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
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
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Genomic context

Location:
11p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (46719213..46739506)
105.20201022 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 zinc finger protein 408 Neighboring gene cytoskeleton associated protein 5 Neighboring gene microRNA 5582 Neighboring gene small nucleolar RNA, C/D box 67

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Ischemic stroke, susceptibility to
MedGen: C0948008 OMIM: 601367 GeneReviews: Not available
not available
Pregnancy loss, recurrent, susceptibility to, 2
MedGen: C3280672 OMIM: 614390 GeneReviews: Not available
not available
Prothrombin deficiency, congenital
MedGen: C0020640 OMIM: 613679 GeneReviews: Not available
not available
Thrombophilia due to thrombin defect
MedGen: C3160733 OMIM: 188050 GeneReviews: Prothrombin Thrombophilia
not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables enzyme activator activity IEA
Inferred from Electronic Annotation
more info
 
enables enzyme inhibitor activity 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 serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
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
 
involved_in blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
involved_in cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular protein metabolic process TAS
Traceable Author Statement
more info
 
involved_in cytolysis by host of symbiont cells IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
involved_in fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in leukocyte migration TAS
Traceable Author Statement
more info
 
involved_in multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of astrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
involved_in platelet activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet activation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lipid kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase signaling 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 complement activation TAS
Traceable Author Statement
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_000506.5NP_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
    P00734
    Related
    ENSP00000308541.5, ENST00000311907.10
    Conserved Domains (6) summary
    smart00020
    Location:363613
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2588
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    smart00130
    Location:211293
    KR; Kringle domain
    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 ...
    pfam09396
    Location:317363
    Thrombin_light; Thrombin light chain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    46719213..46739506
    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.
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