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. Mut... See more...

Aliases for F2 Gene

Aliases for F2 Gene

  • Coagulation Factor II, Thrombin 2 3 5
  • Prepro-Coagulation Factor II 2 3
  • Prothrombin 3 4
  • EC 3.4.21.5 4 52
  • Coagulation Factor II (Thrombin) 2
  • Coagulation Factor II 4
  • Prothrombin B-Chain 3
  • Thrombin Factor II 3
  • Serine Protease 3
  • EC 3.4.21 52
  • RPRGL2 3
  • THPH1 3
  • PT 3

External Ids for F2 Gene

Previous GeneCards Identifiers for F2 Gene

  • GC11M048740
  • GC11P047618
  • GC11P046772
  • GC11P046705
  • GC11P046697
  • GC11P046446
  • GC11P046740

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 Prothrombin Deficiency, Congenital and Thrombophilia Due To Thrombin Defect. Among its related pathways are Signaling by GPCR and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is PAMR1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for F2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F2 Gene

Genomics for F2 Gene

GeneHancer (GH) Regulatory Elements for F2 Gene

Promoters and enhancers for F2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J046717 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.7 -0.5 -477 1.6 EP300 POLR2G NCOR1 PHF8 KDM6A TCF7 FOXA1 ZBTB25 TGIF2 ZBTB7A F2 NONHSAG008216.2 RF00017-909 ZNF408
GH11J046844 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 10.2 +126.7 126720 3 FOXK2 ZNF217 NRF1 USF1 POLR2G SP1 PHF8 FOS ZFX ZIC2 CKAP5 LRP4-AS1 lnc-LRP4-1 F2 ZNF408 piR-59265
GH11J046639 Enhancer 1 Ensembl ENCODE dbSUPER 11.1 -78.9 -78905 2.5 FOXA2 SPI1 CREM FOXP1 ZNF664 GLIS1 ZNF792 POLR2A HNF4A ARNT ATG13 ZNF408 HARBI1 AMBRA1 F2 ARHGAP1 SNORD67 CKAP5 lnc-ARHGAP1-1 lnc-ZNF408-5
GH11J046647 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 -70.0 -69969 2.8 JUND ATF2 NR2F2 FOS ZBTB48 TCF7L2 RAD21 RXRA GATA2 JUN lnc-ARHGAP1-1 ATG13 ARHGAP1 ZNF408 HARBI1 F2 AMBRA1 CHRM4 SNORD67 CKAP5
GH11J046686 Enhancer 0.8 Ensembl ENCODE dbSUPER 12 -31.5 -31523 2.1 ZIC2 POLR2A FOS NR2F2 ZNF692 MYC F2 SNORD67 CKAP5 ACP2 piR-44479 lnc-ATG13-1 ARHGAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F2

Top Transcription factor binding sites by QIAGEN in the F2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for F2 Gene

Genomic Locations for F2 Gene
chr11:46,719,180-46,739,506
(GRCh38/hg38)
Size:
20,327 bases
Orientation:
Plus strand
chr11:46,740,730-46,761,056
(GRCh37/hg19)
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:
    • 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.
    • It is not known whether 1 or 2 smaller activation peptides, with additional cleavage after Arg-314, are released in natural blood clotting.
    • Thrombin can itself cleave the N-terminal fragment (fragment 1) of the prothrombin, prior to its activation by factor Xa.
    • The cleavage after Arg-198, observed in vitro, does not occur in plasma.

    Three dimensional structures from OCA and Proteopedia for F2 Gene

neXtProt entry for F2 Gene

Selected DME Specific Peptides for F2 Gene

P00734:
  • CRNPDGD
  • DLLVRIGKHSRTRYER
  • PWCYTTDP
  • VLTAAHC
  • GKYGFYTHVFRLK
  • KRGDACEGDSGGPFVMKSP
  • AGYKGRVTGWGNL
  • KIYIHPRYNW
  • CSIPVCGQ
  • GEADCGLRPLFEK
  • WVLTAAH
  • EKISMLEKIY
  • INSTTHPGADL
  • DACEGDSGGP
  • GNLEREC

Post-translational modifications for F2 Gene

  • 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.
  • N-glycosylated. N-glycan heterogeneity at Asn-121: Hex3HexNAc3 (minor), Hex4HexNAc3 (minor) and Hex5HexNAc4 (major). At Asn-143: Hex4HexNAc3 (minor) and Hex5HexNAc4 (major).
  • Glycosylation at Asn121, Asn143, and Asn416
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • THRB_HUMAN (518)

Other Protein References for F2 Gene

Antibody Products

  • Invitrogen Antibodies for F2 (AFLGC-F2)

Domains & Families for F2 Gene

Gene Families for F2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for F2 Gene

Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Kringle
  • Coagulation factor GLA domain signature
  • Prothrombin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for F2 Gene

GenScript: Design optimal peptide antigens:
  • F2 protein (Q15253_HUMAN)
  • Prothrombin (Q16505_HUMAN)
  • Prothrombin (Q86WA1_HUMAN)
  • Prothrombin (Q8TD58_HUMAN)
  • Coagulation factor II (THRB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00734

UniProtKB/Swiss-Prot:

THRB_HUMAN :
  • Belongs to the peptidase S1 family.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg- -Gly bonds in fibrinogen to form fibrin and release fibrinopeptides A and B.; EC=3.4.21.5;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5.
GENATLAS Biochemistry:
coagulation factor II,vitamin K-dependent (prothrombin)

Enzyme Numbers (IUBMB) for F2 Gene

Phenotypes From GWAS Catalog for F2 Gene

Gene Ontology (GO) - Molecular Function for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 20421939
GO:0004252 serine-type endopeptidase activity IDA,IEA 1672265
GO:0005102 signaling receptor binding IPI 8626514
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 3279057
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 F2<tm1Jes>
  • F2 F2<tm1Sjd>
  • F2 F2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for F2 Gene

miRTarBase miRNAs that target F2

Clone Products

  • Addgene plasmids for F2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
lysosome 2
endosome 1

Gene Ontology (GO) - Cellular Components for F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IEA,IDA 9639571
GO:0005623 cell IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with F2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F2 Gene

Pathways & Interactions for F2 Gene

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

Pathways by source for F2 Gene

1 GeneGo (Thomson Reuters) pathway for F2 Gene
  • Cell adhesion Integrin inside-out signaling
9 Qiagen pathways for F2 Gene
  • Blood Coagulation Cascade
  • Endothelin-1 Signaling Pathway
  • Extrinsic Prothrombin Activation Pathway
  • G12-G13 in Cellular Signaling
  • Intrinsic Prothrombin Activation Pathway

SIGNOR curated interactions for F2 Gene

Activates:

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 IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006953 acute-phase response IEA --
GO:0007166 cell surface receptor signaling pathway IDA 1672265
genes like me logo Genes that share ontologies with F2: view

Drugs & Compounds for F2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Argatroban Approved, Investigational Pharma inhibitor, Target Thrombin mediated fibrinogen cleavage inhibitor 25
Ximelagatran Approved, Investigational, Withdrawn Pharma inhibitor, Target thrombin inhibitor,orally available 2
Bivalirudin Approved, Investigational Pharma inhibitor, Target 79
Lepirudin Approved Pharma inhibitor, Target 5
Menadione Approved Nutra inhibitor, Target, activator 306

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(13) 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
BIBR-1048 Thrombin inhibitor 211915-06-9
Bivalirudin Trifluoroacetate Reversible thrombin inhibitor 128270-60-0
CORM-3 Exhibits anti-inflammatory/cardioprotective effects 475473-26-8
Dabigatran etexilate mesylate Direct thrombin inhibitor,anticoagulant,prodrug of dabigatran 872728-81-9
Dabigatran ethyl ester Thrombin activity inhibitor 429658-95-7
heparin cofactor II precursor (SERPIND1) fragment [Homo sapiens] Thrombin inhibitor
heparin cofactor II precursor fragment [Homo sapiens] Thrombin inhibitor
PPACK Dihydrochloride Thrombin inhibitor
Thrombin Receptor Activator for Peptide 5 (TRAP-5) 141685-53-2
Ximelagatran thrombin inhibitor,orally available 192939-46-1
genes like me logo Genes that share compounds with F2: view

Drug Products

Transcripts for F2 Gene

mRNA/cDNA for F2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for F2

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

Expression for F2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for F2 Gene



Protein tissue co-expression partners for F2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F2

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.

Evidence on tissue expression from TISSUES for F2 Gene

  • Liver(5)
  • Blood(4.8)
  • Urine(4.5)
  • Nervous system(4.5)
  • Bone marrow(4.4)
  • Heart(3.2)
  • Intestine(3)
  • Kidney(3)
  • Lung(2.8)
  • Skin(2.6)
  • Gall bladder(2.4)
  • Adrenal gland(2.3)
  • Muscle(2.3)
  • Bone(2)
  • Eye(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • mouth
  • nose
Thorax:
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia F2 31 30
  • 86.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia F2 31 30
  • 83.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia F2 17 31 30
  • 82.47 (n)
rat
(Rattus norvegicus)
Mammalia F2 30
  • 81.62 (n)
oppossum
(Monodelphis domestica)
Mammalia F2 31
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F2 31
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves F2 31 30
  • 65.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F2 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f2 30
  • 63.21 (n)
Str.8528 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.29409 30
zebrafish
(Danio rerio)
Actinopterygii f2 31 30
  • 61.38 (n)
OneToOne
Dr.26855 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11579 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToMany
Species where no ortholog for F2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for F2: view image

Paralogs for F2 Gene

Paralogs for F2 Gene

(45) SIMAP similar genes for F2 Gene using alignment to 6 proteins:

  • THRB_HUMAN
  • C9JV37_HUMAN
  • E9PIT3_HUMAN
  • Q15253_HUMAN
  • Q86WA1_HUMAN
  • Q8TD58_HUMAN
genes like me logo Genes that share paralogs with F2: view

Variants for F2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
627173 Likely Pathogenic: Reduced prothrombin activity 46,739,365(+) T/C MISSENSE_VARIANT
627194 Likely Pathogenic: Reduced prothrombin activity 46,726,734(+) GAGA/G INFRAME_DELETION
627289 Likely Pathogenic: Coagulation factor deficiency syndrome 46,720,542(+) A/G MISSENSE_VARIANT
627408 Likely Pathogenic: Reduced prothrombin activity 46,726,564(+) G/A MISSENSE_VARIANT
692073 Pathogenic: Venous thrombosis 46,739,326(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for F2 Gene

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)

Additional Variant Information for F2 Gene

Human Gene Mutation Database (HGMD)
F2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for F2 Gene

Disorders for F2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
prothrombin deficiency, congenital
  • hypoprothrombinemia
thrombophilia due to thrombin defect
  • thph1
pregnancy loss, recurrent 2
  • pregnancy loss, recurrent, susceptibility to, 2
stroke, ischemic
  • cerebrovascular accident
thrombosis
  • thrombosis of blood vessel
- 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.
  • 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.
  • 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.

Additional Disease Information for F2

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

No data available for Genatlas for F2 Gene

Publications for F2 Gene

  1. 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 41 54
  2. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B … Nisanci Y (Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2010) 3 23 41 54
  3. Risk factors for failure of heparin thromboprophylaxis in patients with acute traumatic spinal cord injury. (PMID: 19853891) Rubin-Asher D … Lubetsky A (Thrombosis research 2010) 3 23 41 54
  4. Thrombophilic risk factors in patients with cranial and spinal dural arteriovenous fistulae. (PMID: 18824942) Gerlach R … Marquardt G (Neurosurgery 2008) 3 23 41 54
  5. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PMID: 15534175) Casas JP … Sharma P (Archives of neurology 2004) 3 4 41 54

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