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Aliases for F2 Gene

Aliases for F2 Gene

  • Coagulation Factor II (Thrombin) 2 3
  • Prepro-Coagulation Factor II 2 3
  • EC 3.4.21.5 4 64
  • RPRGL2 3 6
  • THPH1 3 6
  • Coagulation Factor II 4
  • Prothrombin B-Chain 3
  • Serine Protease 3
  • Prothrombin 3
  • EC 3.4.21 64
  • PT 3

External Ids for F2 Gene

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. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014]

GeneCards Summary for F2 Gene

F2 (Coagulation Factor II (Thrombin)) is a Protein Coding gene. Diseases associated with F2 include non-a-e hepatitis and prothrombin deficiency. Among its related pathways are Signaling by GPCR and Regulation of actin cytoskeleton. GO annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is HP.

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

Genomic Location for F2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for F2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F2 Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn121, Asn143, and Asn416

Other Protein References for F2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for F2 Gene

Gene Families for F2 Gene

HGNC:

UniProtKB/Swiss-Prot:

THRB_HUMAN
Domain:
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.:
    • P00734
  • Contains 2 kringle domains.:
    • P00734
  • Contains 1 peptidase S1 domain.:
    • P00734
Family:
  • Belongs to the peptidase S1 family.:
    • P00734
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:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IDA 12855810
GO:0005102 receptor binding IPI 12855810
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 14691232
genes like me logo Genes that share ontologies with F2: view
genes like me logo Genes that share phenotypes with F2: view

Animal Models for F2 Gene

MGI Knock Outs for F2:
  • F2 tm1Sjd
  • F2 tm1Jes

miRNA for F2 Gene

No data available for Transcription Factor Targeting 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
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 4
mitochondrion 2
nucleus 2
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F2: view

Pathways for F2 Gene

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

Gene Ontology (GO) - Biological Process for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 7559487
GO:0006508 proteolysis TAS --
GO:0006953 acute-phase response IEA --
GO:0007166 cell surface receptor signaling pathway IDA 1672265
GO:0007275 multicellular organismal development TAS 9639571
genes like me logo Genes that share ontologies with F2: view

Compounds for F2 Gene

UniProtKB/Swiss-Prot:

P00734-THRB_HUMAN
Pharmaceutical: The peptide TP508 also known as Chrysalin (Orthologic) could be used to accelerate repair of both soft and hard tissues

(128) Novoseek inferred chemical compound relationships for F2 Gene

Compound -log(P) Hits PubMed IDs
fibrinogen 92.9 214
warfarin 89.4 184
mnpt 81.9 12
hepaplastin 81.4 32
heparin 80.8 123

(1) PharmGKB related drug/compound annotations for F2 Gene

Drug/compound Annotation
tamoxifen
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 (52.5).

Integrated Proteomics: protein expression 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 expressions with F2: view

Orthologs for F2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia F2 36
  • 99.25 (n)
  • 99.36 (a)
F2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F2 36
  • 83.52 (n)
  • 81.8 (a)
F2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F2 36
  • 86.62 (n)
  • 84.47 (a)
F2 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F2 36
  • 82.47 (n)
  • 81.98 (a)
F2 16
F2 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F2 37
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F2 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F2 36
  • 81.62 (n)
  • 80.75 (a)
chicken
(Gallus gallus)
Aves F2 36
  • 65.4 (n)
  • 63.04 (a)
F2 37
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F2 37
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29409 36
tropical clawed frog
(Silurana tropicalis)
Amphibia f2 36
  • 63.21 (n)
  • 61.2 (a)
Str.8528 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11579 36
zebrafish
(Danio rerio)
Actinopterygii Dr.26855 36
f2 36
  • 61.38 (n)
  • 56.41 (a)
f2 37
  • 52 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs5896 - 46,723,453(+) CACCA(C/T)GGGAC reference, missense, nc-transcript-variant
rs5897 - 46,728,021(+) AGAGT(A/C)CCCAG missense, reference, nc-transcript-variant
rs5898 -- 46,728,098(+) TACCC(A/G)CCCTG synonymous-codon, reference, nc-transcript-variant
rs5899 -- 46,726,112(+) GAGGG(C/T)GTGTG reference, synonymous-codon, nc-transcript-variant
rs5900 -- 46,729,509(+) CGGCC(A/C/G)GTCTG synonymous-codon, reference, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897322 CNV Gain 21882294

Relevant External Links for F2 Gene

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

Disorders for F2 Gene

(4) OMIM Diseases for F2 Gene (176930)

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.
  • 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. 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.
  • 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.

(98) Novoseek inferred disease relationships for F2 Gene

Disease -log(P) Hits PubMed IDs
pt prolonged 92.9 85
coagulopathy 89.9 102
hypoprothrombinemias 87.7 70
thrombophilia 87.1 85
bleeding 85.3 132

Relevant External Links for F2

GeneTests
F2
GeneReviews
F2
Genetic Association Database (GAD)
F2
Human Genome Epidemiology (HuGE) Navigator
F2
genes like me logo Genes that share disorders with F2: view

Publications for F2 Gene

  1. Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity. (PMID: 1354985) Miyata T. … Iwanaga S. (Biochemistry 1992) 3 4 23
  2. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. (PMID: 8916933) Poort S.R. … Bertina R.M. (Blood 1996) 3 23 49
  3. Genetic factors associated with thrombosis in pregnancy in a United States population. (PMID: 11084577) Dilley A. … Philipp C. (Am. J. Obstet. Gynecol. 2000) 3 23 49
  4. The impact of the search for thrombophilia risk factors among antiphospholipid syndrome patients with thrombosis. (PMID: 11085290) Torresan M. … Annichino-Bizzacchi J.M. (Blood Coagul. Fibrinolysis 2000) 3 23 49
  5. Prothrombin gene mutation uncommon in pulmonary embolism. (PMID: 11095555) Kohlmeier R.E. … Gulley M.L. (South. Med. J. 2000) 3 23 49

Products for F2 Gene

Sources for F2 Gene

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