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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
External Ids for F2 Gene
- HGNC: 3535
- Entrez Gene: 2147
- Ensembl: ENSG00000180210
- OMIM: 176930
- UniProtKB: P00734
Previous GeneCards Identifiers for F2 Gene
- GC11M048740
- GC11P047618
- GC11P046772
- GC11P046705
- GC11P046697
- GC11P046446
- GC11P046740
Summaries 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.
Additional gene information for F2 Gene
- Monarch Initiative
- Search for F2 at DataMed
- Search for F2 at HumanCyc
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
- 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:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
F2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- NX_P00734 (NX_P00734-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- THRB_HUMAN (518)
Other Protein References for F2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotagâ„¢ THRB Antibody
- NSJ Bioreagents Prothrombin Antibody
- Creative Diagnostics Anti-F2 monoclonal antibody, clone BIQ-5014
-
Creative Biolabs
- Recombinant Anti-human F2 Antibody Fab Fragment
- Recombinant Anti-human F2 Antibody
- Recombinant Mouse Anti-F2 Antibody (aTM-1)
- Mouse Anti-F2 Recombinant Antibody (CBFYC-2630)
- Mouse Anti-F2 Recombinant Antibody (CBXF-0150)
- Mouse Anti-F2 Recombinant Antibody (10B23)
- Mouse Anti-F2 Recombinant Antibody (22)
-
Custom Antibody ServicesOriGene Antibodies for F2
- Novus Biologicals Antibodies for F2
-
Abcam antibodies for F2
- Invitrogen Antibodies for F2 (AFLGC-F2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for F2
- Sino Biological Antibodies for F2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for F2
- Origene Custom Protein Services for F2
- Sino Biological Cell Lysates for F2
- Sino Biological Recombinant Proteins for F2
- ProSpec Recombinant Proteins for F2
-
ProSci Proteins for F2
-
Abcam proteins for F2
Assay Products
- G Biosciences Immunotagâ„¢ Prothrombin ELISA Kit
- Creative Diagnostics Prothrombin (Human) ELISA Kit, Thrombin (Human) ELISA Kit, and Human F2 ELISA Matched Antibody Pair
- Novus Biologicals ELISA Kits for F2
-
Boster Bio ELISA Kits for 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- Family:
-
- Belongs to the peptidase S1 family.
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
| 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 |
Phenotypes for F2 Gene
- MGI mutant phenotypes for F2:
-
inferred from 5 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- mortality/aging
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for F2:
-
- Increased G2M DNA content, increased 8N DNA content
- Decreased HIV-LTR-beta-galactosidase protein expression
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased homologous recombination repair frequency
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance (Z-score < -2)
Animal Models for F2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for F2 - Select products 50% OFF >
- * F2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for F2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for F2
- genomics-online: gRNA clones - Search for available Thrombin Light Chain gRNA products
- Overview of 129 available Thrombin Light Chain gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for F2
miRNA for F2 Gene
- miRTarBase miRNAs that target F2
-
- hsa-mir-1-3p (MIRT001360)
- hsa-mir-16-5p (MIRT001484)
- hsa-let-7b-5p (MIRT001622)
- hsa-mir-9-5p (MIRT021414)
- hsa-mir-4674 (MIRT517913)
- hsa-mir-6749-3p (MIRT517914)
- hsa-mir-1260b (MIRT517915)
- hsa-mir-1260a (MIRT517916)
- hsa-mir-4437 (MIRT517917)
- hsa-mir-423-3p (MIRT517918)
- hsa-mir-6778-3p (MIRT517919)
- hsa-mir-532-3p (MIRT517920)
- hsa-mir-4740-3p (MIRT517921)
- hsa-mir-1224-3p (MIRT517922)
- hsa-mir-6783-3p (MIRT551429)
- hsa-mir-1343-3p (MIRT551430)
- hsa-mir-378g (MIRT551431)
- hsa-mir-6742-3p (MIRT551432)
- hsa-mir-6852-5p (MIRT551433)
- hsa-mir-939-3p (MIRT551434)
- hsa-mir-660-3p (MIRT551435)
- hsa-mir-1306-5p (MIRT551436)
- hsa-mir-4524b-3p (MIRT633772)
- hsa-mir-4279 (MIRT633773)
- hsa-mir-1206 (MIRT633774)
- hsa-mir-1976 (MIRT633775)
- hsa-mir-3653-5p (MIRT633776)
- hsa-mir-6747-3p (MIRT633777)
- hsa-mir-662 (MIRT633778)
- hsa-mir-3614-5p (MIRT647950)
- hsa-mir-6500-3p (MIRT647951)
- hsa-mir-34b-3p (MIRT647952)
- hsa-mir-5698 (MIRT672192)
- hsa-mir-6818-3p (MIRT672193)
- hsa-mir-4430 (MIRT672194)
- hsa-mir-3652 (MIRT672195)
- hsa-mir-122-5p (MIRT672196)
- hsa-mir-504-3p (MIRT672197)
- hsa-mir-3135b (MIRT672198)
- hsa-mir-3655 (MIRT672199)
- hsa-mir-143-5p (MIRT673590)
- hsa-mir-6499-3p (MIRT673591)
- hsa-mir-6812-3p (MIRT673592)
- hsa-mir-4797-5p (MIRT673593)
- hsa-mir-1827 (MIRT763044)
- hsa-mir-25-5p (MIRT764215)
- hsa-mir-3929 (MIRT767768)
- hsa-mir-4419b (MIRT768764)
- hsa-mir-4478 (MIRT769515)
- hsa-mir-4649-3p (MIRT770627)
- hsa-mir-4722-5p (MIRT771544)
- hsa-mir-4768-3p (MIRT772076)
- hsa-mir-485-5p (MIRT772604)
- hsa-mir-6087 (MIRT775658)
- hsa-mir-665 (MIRT777548)
- hsa-mir-6746-5p (MIRT778219)
- hsa-mir-6771-5p (MIRT778676)
- hsa-mir-6808-5p (MIRT779661)
- hsa-mir-6884-5p (MIRT780992)
- hsa-mir-6893-5p (MIRT781194)
- hsa-mir-7160-5p (MIRT781601)
- hsa-mir-940 (MIRT782888)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for F2
- Browse OriGene Inhibitory RNA Products For F2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F2
- genomics-online: shRNA clones - Search for available Thrombin Light Chain shRNA products
- Overview of 129 available Thrombin Light Chain gene related products
Clone Products
- Applied Biological Materials (abm): Clones for F2 - Select products 50% OFF >
- * F2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for F2
- Addgene plasmids for F2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for F2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for F2 Gene
Pathways & Interactions for F2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of Fibrin Clot (Clotting Cascade) |
Extrinsic Prothrombin Activation Pathway
.01
|
|
| 2 | Gamma carboxylation, hypusine formation and arylsulfatase activation | ||
| 3 | Peptide ligand-binding receptors | ||
| 4 | Signaling by GPCR | ||
| 5 | Folate Metabolism | ||
Pathways by source for F2 Gene
10 BioSystems pathways for F2 Gene
24 Reactome pathways for F2 Gene
2 PharmGKB pathways for F2 Gene
1 GeneGo (Thomson Reuters) pathway for F2 Gene
- Cell adhesion Integrin inside-out signaling
2 R&D Systems pathways for F2 Gene
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
Interacting Proteins for F2 Gene
Selected Interacting proteins:
P00734-THRB_HUMAN
ENSP00000308541
for F2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for F2
| 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 |
Drugs & Compounds for F2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Argatroban | Approved, Investigational | Pharma | Target, inhibitor | Thrombin mediated fibrinogen cleavage inhibitor | 25 | |
| Ximelagatran | Approved, Investigational, Withdrawn | Pharma | Target, inhibitor | thrombin inhibitor，orally available | 2 | |
| Bivalirudin | Approved, Investigational | Pharma | Target, inhibitor | 79 | ||
| Lepirudin | Approved | Pharma | Target, inhibitor | 5 | ||
| Menadione | Approved | Nutra | Target, activator, inhibitor | 306 |
| 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 |
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 :
-
- ENST00000311907 2023 bps (ENST00000311907.9)
- ENST00000442468 1031 bps (ENST00000442468.1)
- ENST00000469189 610 bps (ENST00000469189.1)
- ENST00000490274 545 bps (ENST00000490274.1)
- ENST00000530231 1849 bps (ENST00000530231.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for F2 - Select products 50% OFF >
- * F2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for F2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for F2
- genomics-online: gRNA clones - Search for available Thrombin Light Chain gRNA products
- Overview of 129 available Thrombin Light Chain gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for F2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for F2
- Browse OriGene Inhibitory RNA Products For F2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F2
- genomics-online: shRNA clones - Search for available Thrombin Light Chain shRNA products
- Overview of 129 available Thrombin Light Chain gene related products
Clone Products
- Applied Biological Materials (abm): Clones for F2 - Select products 50% OFF >
- * F2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for F2
- Addgene plasmids for F2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for F2
| 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 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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F2
SOURCE GeneReport for Unigene cluster for F2 Gene:
Hs.655207mRNA 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
Primer Products
-
OriGene qPCR primer pairs for F2
-
OriGene qPCR primer pairs and template standards for F2
Gene Expression Assay Products
Orthologs for F2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | F2 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | F2 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | F2 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | F2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | F2 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | F2 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | F2 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | F2 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | F2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | f2 30 |
|
||
| Str.8528 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.29409 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | f2 31 30 |
|
OneToOne | |
| Dr.26855 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11579 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(45) SIMAP similar genes for F2 Gene using alignment to 6 proteins:
- THRB_HUMAN
- C9JV37_HUMAN
- E9PIT3_HUMAN
- Q15253_HUMAN
- Q86WA1_HUMAN
- Q8TD58_HUMAN
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 |
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
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
(273) MalaCards diseases for F2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| prothrombin deficiency, congenital |
|
|
| thrombophilia due to thrombin defect |
|
|
| pregnancy loss, recurrent 2 |
|
|
| stroke, ischemic |
|
|
| thrombosis |
|
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
No data available for Genatlas for F2 Gene
Publications for F2 Gene
- 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
- 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
- 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
- Thrombophilic risk factors in patients with cranial and spinal dural arteriovenous fistulae. (PMID: 18824942) Gerlach R … Marquardt G (Neurosurgery 2008) 3 23 41 54
- 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
ExternalLinks
Products for F2 Gene
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