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

Gene ID: 2147, updated on 13-Oct-2018

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; 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. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 lead to various forms of thrombosis and dysprothrombinemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Restricted expression toward liver (RPKM 385.8) See more
Orthologs

Genomic context

Location:
11p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (46719166..46739508)
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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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
Venous thrombosis 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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enzyme activator activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity TAS
Traceable Author Statement
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
lipopolysaccharide binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
thrombospondin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
PubMed 
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
 
cytolysis by host of symbiont cells IDA
Inferred from Direct Assay
more info
PubMed 
fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of astrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cytokine production involved in inflammatory response 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 
neutrophil mediated killing of gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of JAK-STAT cascade NAS
Non-traceable Author Statement
more info
PubMed 
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 lipid kinase activity 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 localization to nucleus 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 
proteolysis IEA
Inferred from Electronic Annotation
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 complement activation TAS
Traceable Author Statement
more info
 
regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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
serine protease
thrombin factor II
NP_000497.1
NP_001298186.1

NCBI Reference Sequences (RefSeq)

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_000506.4NP_000497.1  prothrombin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000497.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK303747, AK312965, BC051332, DA638868
    Consensus CDS
    CCDS31476.1
    UniProtKB/Swiss-Prot
    P00734
    Related
    ENSP00000308541.5, OTTHUMP00000197117, ENST00000311907.9, OTTHUMT00000317706
    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
  2. NM_001311257.1NP_001298186.1  prothrombin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK303747, AK312965, BC051332, DA638868
    UniProtKB/Swiss-Prot
    P00734
    Conserved Domains (6) summary
    smart00020
    Location:347597
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:1172
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    smart00130
    Location:195277
    KR; Kringle domain
    cd00108
    Location:89170
    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:348600
    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:301347
    Thrombin_light; Thrombin light chain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    46719166..46739508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_428840.4 RNA Sequence

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