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Aliases for F2 Gene

Aliases for F2 Gene

  • Coagulation Factor II, Thrombin 2 3
  • Coagulation Factor II (Thrombin) 2 3 5
  • Prepro-Coagulation Factor II 2 3
  • EC 3.4.21.5 4 63
  • Coagulation Factor II 4
  • Prothrombin B-Chain 3
  • Serine Protease 3
  • EC 3.4.21 63
  • RPRGL2 3
  • THPH1 3
  • PT 3

External Ids for F2 Gene

Previous GeneCards Identifiers for F2 Gene

  • GC11M048740
  • GC11P047618
  • GC11P046772
  • GC11P046705
  • GC11P046697
  • GC11P046446

Summaries for F2 Gene

Entrez Gene Summary for F2 Gene

  • 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]

GeneCards Summary for F2 Gene

F2 (Coagulation Factor II, Thrombin) is a Protein Coding gene. Diseases associated with F2 include hypoprothrombinemia and pregnancy loss, recurrent 2. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is PLAT.

UniProtKB/Swiss-Prot for F2 Gene

  • Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing.

Gene Wiki entry for F2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F2 Gene

Genomics for F2 Gene

Regulatory Elements for F2 Gene

Promoters for F2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around F2 on UCSC Golden Path with GeneCards custom track

Genomic Location for F2 Gene

Chromosome:
11
Start:
46,719,180 bp from pter
End:
46,739,506 bp from pter
Size:
20,327 bases
Orientation:
Plus strand

Genomic View for F2 Gene

Genes around F2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F2 Gene

Proteins for F2 Gene

  • Protein details for F2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00734-THRB_HUMAN
    Recommended name:
    Prothrombin
    Protein Accession:
    P00734
    Secondary Accessions:
    • B2R7F7
    • B4E1A7
    • Q4QZ40
    • Q53H04
    • Q53H06
    • Q69EZ7
    • Q7Z7P3
    • Q9UCA1

    Protein attributes for F2 Gene

    Size:
    622 amino acids
    Molecular mass:
    70037 Da
    Quaternary structure:
    • Heterodimer (named alpha-thrombin) of a light and a heavy chain; disulfide-linked. Forms a heterodimer with SERPINA5.
    Miscellaneous:
    • It is not known whether 1 or 2 smaller activation peptides, with additional cleavage after Arg-314, are released in natural blood clotting.
    • Prothrombin is activated on the surface of a phospholipid membrane that binds the amino end of prothrombin and factors Va and Xa in Ca-dependent interactions; factor Xa removes the activation peptide and cleaves the remaining part into light and heavy chains. The activation process starts slowly because factor V itself has to be activated by the initial, small amounts of thrombin.
    • The cleavage after Arg-198, observed in vitro, does not occur in plasma.
    • Thrombin can itself cleave the N-terminal fragment (fragment 1) of the prothrombin, prior to its activation by factor Xa.

    Three dimensional structures from OCA and Proteopedia for F2 Gene

neXtProt entry for F2 Gene

Proteomics data for F2 Gene at MOPED

Post-translational modifications for F2 Gene

  • N-glycosylated. N-glycan heterogeneity at Asn-121: Hex3HexNAc3 (minor), Hex4HexNAc3 (minor) and Hex5HexNAc4 (major). At Asn-143: Hex4HexNAc3 (minor) and Hex5HexNAc4 (major).
  • The gamma-carboxyglutamyl residues, which bind calcium ions, result from the carboxylation of glutamyl residues by a microsomal enzyme, the vitamin K-dependent carboxylase. The modified residues are necessary for the calcium-dependent interaction with a negatively charged phospholipid surface, which is essential for the conversion of prothrombin to thrombin.
  • Glycosylation at Asn 121, Asn 143, and Asn 416
  • Modification sites at PhosphoSitePlus

Other Protein References for F2 Gene

Antibody Products

  • R&D Systems Antibodies for F2 (Coagulation Factor II/Thrombin)

Protein Products

Domains & Families for F2 Gene

Gene Families for F2 Gene

Suggested Antigen Peptide Sequences for F2 Gene

Graphical View of Domain Structure for InterPro Entry

P00734

UniProtKB/Swiss-Prot:

THRB_HUMAN :
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.
  • Contains 2 kringle domains.
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F2: view

Function for F2 Gene

Molecular function for F2 Gene

GENATLAS Biochemistry:
coagulation factor II,vitamin K-dependent (prothrombin)
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage of Arg- -Gly bonds in fibrinogen to form fibrin and release fibrinopeptides A and B.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
UniProtKB/Swiss-Prot Function:
Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing.

Enzyme Numbers (IUBMB) for F2 Gene

Gene Ontology (GO) - Molecular Function for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008083 growth factor activity TAS 8626514
genes like me logo Genes that share ontologies with F2: view
genes like me logo Genes that share phenotypes with F2: view

Human Phenotype Ontology for F2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F2 Gene

MGI Knock Outs for F2:
  • F2 tm1b(EUCOMM)Hmgu
  • F2 tm1Jes
  • F2 tm1Sjd

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for F2 Gene

Localization for F2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F2 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F2 Gene COMPARTMENTS Subcellular localization image for F2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
cytoskeleton 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2
chloroplast 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F2: view

Pathways & Interactions for F2 Gene

genes like me logo Genes that share pathways with F2: view

SIGNOR curated interactions for F2 Gene

Activates:

Gene Ontology (GO) - Biological Process for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006465 signal peptide processing TAS --
GO:0006508 proteolysis IEA,TAS 7507931
GO:0007596 blood coagulation IEA,TAS --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0008360 regulation of cell shape IEA --
genes like me logo Genes that share ontologies with F2: view

Drugs & Compounds for F2 Gene

(184) Drugs for F2 Gene - From: Novoseek, DGIdb, DrugBank, PharmGKB, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Argatroban Approved, Investigational Pharma inhibitor, Target Thrombin mediated fibrinogen cleavage inhibitor 18
Bivalirudin Approved, Investigational Pharma inhibitor, Target 64
Ximelagatran Approved, Investigational, Withdrawn Pharma inhibitor, Target 2
Heparin Approved, Investigational Pharma Antagonist, inhibitor, cofactor 719,239
Lepirudin Approved Pharma inhibitor, Target 5

(65) Additional Compounds for F2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) ApexBio Compounds for F2 Gene

Compound Action Cas Number
5-R-Rivaroxaban Factor Xa (FXa) inhibitor 865479-71-6
Argatroban Thrombin mediated fibrinogen cleavage inhibitor 74863-84-6
BIBR 953 (Dabigatran, Pradaxa) Thrombin inhibitor,potent,reversible and direct 211914-51-1
CORM-3 Exhibits anti-inflammatory/cardioprotective effects 475473-26-8
Thrombin Receptor Activator for Peptide 5 (TRAP-5) 141685-53-2
genes like me logo Genes that share compounds with F2: view

Transcripts for F2 Gene

Unigene Clusters for F2 Gene

Coagulation factor II (thrombin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2: -
SP3: -
SP4:

Relevant External Links for F2 Gene

GeneLoc Exon Structure for
F2
ECgene alternative splicing isoforms for
F2

Expression for F2 Gene

mRNA expression in normal human tissues for F2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F2 Gene

This gene is overexpressed in Liver (x52.5).

Protein differential expression in normal tissues from HIPED for F2 Gene

This gene is overexpressed in Serum (18.4), Plasma (16.2), Synovial fluid (10.3), and Monocytes (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for F2 Gene



SOURCE GeneReport for Unigene cluster for F2 Gene Hs.655207

mRNA Expression by UniProt/SwissProt for F2 Gene

P00734-THRB_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.
genes like me logo Genes that share expression patterns with F2: view

Protein tissue co-expression partners for F2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for F2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia F2 35
  • 83.52 (n)
  • 81.8 (a)
F2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F2 35
  • 86.62 (n)
  • 84.47 (a)
F2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F2 35
  • 82.47 (n)
  • 81.98 (a)
F2 16
F2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia F2 35
  • 99.25 (n)
  • 99.36 (a)
F2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F2 35
  • 81.62 (n)
  • 80.75 (a)
oppossum
(Monodelphis domestica)
Mammalia F2 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F2 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves F2 35
  • 65.4 (n)
  • 63.04 (a)
F2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F2 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f2 35
  • 63.21 (n)
  • 61.2 (a)
Str.8528 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.29409 35
zebrafish
(Danio rerio)
Actinopterygii Dr.26855 35
f2 35
  • 61.38 (n)
  • 56.41 (a)
f2 36
  • 52 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11579 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for F2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F2 Gene

ENSEMBL:
Gene Tree for F2 (if available)
TreeFam:
Gene Tree for F2 (if available)

Paralogs for F2 Gene

Paralogs for F2 Gene

genes like me logo Genes that share paralogs with F2: view

Variants for F2 Gene

Sequence variations from dbSNP and Humsavar for F2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs62623459 Factor II deficiency (FA2D) 46,725,897(+) GCTCC(A/G)AAGGC nc-transcript-variant, reference, missense
VAR_006712 Factor II deficiency (FA2D)
VAR_006713 Factor II deficiency (FA2D)
VAR_006714 Factor II deficiency (FA2D)
VAR_006715 Factor II deficiency (FA2D)

Structural Variations from Database of Genomic Variants (DGV) for F2 Gene

Variant ID Type Subtype PubMed ID
nsv897322 CNV Gain 21882294

Variation tolerance for F2 Gene

Residual Variation Intolerance Score: 7.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F2 Gene

HapMap Linkage Disequilibrium report
F2
Human Gene Mutation Database (HGMD)
F2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F2 Gene

Disorders for F2 Gene

MalaCards: The human disease database

(168) MalaCards diseases for F2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoprothrombinemia
  • dysprothrombinemia
pregnancy loss, recurrent 2
  • pregnancy loss, recurrent, susceptibility to, 2
thrombophilia due to thrombin defect
  • thromboembolism
stroke, ischemic
  • ischemic stroke
congenital factor ii deficiency
  • hypoprothrombinemia
- elite association - COSMIC cancer census association via MalaCards
Search F2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THRB_HUMAN
  • Factor II deficiency (FA2D) [MIM:613679]: A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. {ECO:0000269 PubMed:1349838, ECO:0000269 PubMed:1354985, ECO:0000269 PubMed:1421398, ECO:0000269 PubMed:14962227, ECO:0000269 PubMed:2719946, ECO:0000269 PubMed:3242619, ECO:0000269 PubMed:3567158, ECO:0000269 PubMed:3771562, ECO:0000269 PubMed:3801671, ECO:0000269 PubMed:6405779, ECO:0000269 PubMed:7792730, ECO:0000269 PubMed:7865694}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pregnancy loss, recurrent, 2 (RPRGL2) [MIM:614390]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269 PubMed:11506076}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Thrombophilia due to thrombin defect (THPH1) [MIM:188050]: A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. {ECO:0000269 PubMed:2825773}. Note=The disease is caused by mutations affecting the gene represented in this entry. A common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis.

Relevant External Links for F2

Genetic Association Database (GAD)
F2
Human Genome Epidemiology (HuGE) Navigator
F2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F2
genes like me logo Genes that share disorders with F2: view

No data available for Genatlas for F2 Gene

Publications for F2 Gene

  1. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PMID: 15534175) Casas J.P. … Sharma P. (Arch. Neurol. 2004) 3 4 48 67
  2. Risk factors for failure of heparin thromboprophylaxis in patients with acute traumatic spinal cord injury. (PMID: 19853891) Rubin-Asher D. … Lubetsky A. (Thromb. Res. 2010) 3 23
  3. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B. … Nisanci Y. (Blood Coagul. Fibrinolysis 2010) 3 23
  4. Causal relationship of susceptibility genes to ischemic stroke: comparison to ischemic heart disease and biochemical determinants. (PMID: 20161734) Bentley P. … Sharma P. (PLoS ONE 2010) 3 23
  5. Effects of prothrombin on the individual activated protein C-mediated cleavages of coagulation factor Va. (PMID: 18198180) Tran S. … DahlbAock B. (J. Biol. Chem. 2008) 3 23

Products for F2 Gene

Sources for F2 Gene

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