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

Gene ID: 2147, updated on 21-Jul-2014
Official Symbol
F2provided by HGNC
Official Full Name
coagulation factor II (thrombin)provided by HGNC
Primary source
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. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Jul 2008]
Location:
11p11
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 Protein 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 
contributes_to 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
 
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
 
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
 
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
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
prothrombin
Names
prothrombin
serine protease
prothrombin B-chain
prepro-coagulation factor II
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 

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

mRNA and Protein(s)

  1. NM_000506.3NP_000497.1  prothrombin preproprotein

    See proteins identical to 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
    Blast Score: 276
    Thrombin_light; Thrombin light chain
    smart00020
    Location:363613
    Blast Score: 695
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2588
    Blast Score: 242
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00108
    Location:105186
    Blast Score: 322
    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
    Blast Score: 704
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

RNA

  1. XR_428840.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    46446660..46466973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

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