ENSG00000180210


Homo sapiens

Features
Gene ID: ENSG00000180210
  
Biological name :F2
  
Synonyms : coagulation factor II, thrombin / F2 / P00734
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p11.2
Gene start: 46719180
Gene end: 46739506
  
Corresponding Affymetrix probe sets: 205754_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000308541
Ensembl peptide - ENSP00000433907
Ensembl peptide - ENSP00000387413
NCBI entrez gene - 2147     See in Manteia.
OMIM - 176930
RefSeq - NM_001311257
RefSeq - NM_000506
RefSeq Peptide - NP_000497
RefSeq Peptide - NP_001298186
swissprot - P00734
swissprot - E9PIT3
swissprot - C9JV37
Ensembl - ENSG00000180210
  
Related genetic diseases (OMIM): 188050 - Thrombophilia due to thrombin defect, 188050
  601367 - {Stroke, ischemic, susceptibility to}, 601367
  613679 - Dysprothrombinemia, 613679
  614390 - {Pregnancy loss, recurrent, susceptibility to, 2}, 614390
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 f2ENSDARG00000036041Danio rerio
 F2ENSGALG00000008332Gallus gallus
 F2ENSMUSG00000027249Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLG / P00747 / plasminogenENSG0000012219430
LPA / P08519 / lipoprotein(a)ENSG0000019867028
MST1 / macrophage stimulating 1ENSG0000017353127
HGF / P14210 / hepatocyte growth factorENSG0000001999125
HGFAC / Q04756 / HGF activatorENSG0000010975823
HABP2 / Q14520 / hyaluronan binding protein 2ENSG0000014870221
F12 / P00748 / coagulation factor XIIENSG0000013118720
PLAT / P00750 / plasminogen activator, tissue typeENSG0000010436820
PLAU / P00749 / plasminogen activator, urokinaseENSG0000012286118


Protein motifs (from Interpro)
Interpro ID Name
 IPR000001  Kringle
 IPR000294  Gamma-carboxyglutamic acid-rich (GLA) domain
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR003966  Prothrombin/thrombin
 IPR009003  Peptidase S1, PA clan
 IPR013806  Kringle-like fold
 IPR017857  Coagulation factor-like, Gla domain superfamily
 IPR018056  Kringle, conserved site
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR018992  Thrombin light chain
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR035972  Gamma-carboxyglutamic acid-rich (GLA) domain superfamily
 IPR037111  Thrombin light chain domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0006465 signal peptide processing TAS
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IDA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007597 blood coagulation, intrinsic pathway TAS
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008360 regulation of cell shape IEA
 biological_processGO:0009611 response to wounding IDA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010544 negative regulation of platelet activation TAS
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0017187 peptidyl-glutamic acid carboxylation TAS
 biological_processGO:0030168 platelet activation IDA
 biological_processGO:0030193 regulation of blood coagulation TAS
 biological_processGO:0030194 positive regulation of blood coagulation IDA
 biological_processGO:0030307 positive regulation of cell growth IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IDA
 biological_processGO:0042730 fibrinolysis IDA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045861 negative regulation of proteolysis IDA
 biological_processGO:0048712 negative regulation of astrocyte differentiation IDA
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IDA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IDA
 biological_processGO:0051838 cytolysis by host of symbiont cells IDA
 biological_processGO:0051918 negative regulation of fibrinolysis TAS
 biological_processGO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide IDA
 biological_processGO:0070945 neutrophil mediated killing of gram-negative bacterium IDA
 biological_processGO:0090218 positive regulation of lipid kinase activity IDA
 biological_processGO:1900016 negative regulation of cytokine production involved in inflammatory response IDA
 biological_processGO:1900182 positive regulation of protein localization to nucleus IDA
 biological_processGO:1900738 positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0001530 lipopolysaccharide binding IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity TAS
 molecular_functionGO:0008201 heparin binding IDA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0070053 thrombospondin receptor activity IDA


Pathways (from Reactome)
Pathway description
Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Cell surface interactions at the vascular wall
Peptide ligand-binding receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
G alpha (q) signalling events
Thrombin signalling through proteinase activated receptors (PARs)
Platelet Aggregation (Plug Formation)
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0000225 Gingival bleeding 
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 HP:0000421 Epistaxis 
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 HP:0000978 Ecchymoses 
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 HP:0001907 Thromboembolism 
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 HP:0002204 Pulmonary embolism 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002625 Deep venous thrombosis 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003577 Onset at birth 
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 HP:0003645 Prolonged partial thromboplastin time 
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 HP:0003828 Variable expressivity 
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 HP:0004419 Recurrent thrombophlebitis 
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 HP:0005261 Joint hemorrhage 
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 HP:0005305 Cerebral venous thrombosis 
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 HP:0008151 Prolonged prothrombin and partial thromboplastin times 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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 HP:0012201 Reduced prothrombin activity "Decreased activity of coagulation factor II, which is also known as prothrombin." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115486 GGCX / P38435 / gamma-glutamyl carboxylase  / reaction
 ENSG00000127533 F2RL3 / Q96RI0 / F2R like thrombin or trypsin receptor 3  / reaction / complex
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / complex / reaction
 ENSG00000164251 F2RL1 / P55085 / F2R like trypsin receptor 1  / reaction / complex
 ENSG00000140564 FURIN / P09958 / furin, paired basic amino acid cleaving enzyme  / reaction
 ENSG00000169704 GP9 / P14770 / glycoprotein IX platelet  / reaction / complex
 ENSG00000164220 F2RL2 / O00254 / coagulation factor II thrombin receptor like 2  / complex / reaction
 ENSG00000185010 F8 / P00451 / coagulation factor VIII  / reaction
 ENSG00000185245 GP1BA / P07359 / glycoprotein Ib platelet alpha subunit  / reaction / complex
 ENSG00000146674 IGFBP3 / P17936 / insulin like growth factor binding protein 3  / reaction
 ENSG00000017427 IGF1 / P05019 / insulin like growth factor 1  / reaction
 ENSG00000135919 P07093 / SERPINE2 / serpin family E member 2  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000117601 P01008 / SERPINC1 / serpin family C member 1  / complex / reaction
 ENSG00000099937 P05546 / SERPIND1 / serpin family D member 1  / reaction / complex
 ENSG00000101000 PROCR / Q9UNN8 / protein C receptor  / reaction
 ENSG00000143278 F13B / P05160 / coagulation factor XIII B chain  / reaction
 ENSG00000171560 FGA / P02671 / fibrinogen alpha chain  / reaction
 ENSG00000099769 IGFALS / P35858 / insulin like growth factor binding protein acid labile subunit  / reaction
 ENSG00000198734 F5 / P12259 / coagulation factor V  / reaction
 ENSG00000171564 FGB / P02675 / fibrinogen beta chain  / reaction
 ENSG00000167244 IGF2 / P01344 / insulin like growth factor 2  / reaction
 ENSG00000115718 PROC / P04070 / protein C, inactivator of coagulation factors Va and VIIIa  / reaction
 ENSG00000124491 F13A1 / P00488 / coagulation factor XIII A chain  / reaction
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex
 ENSG00000203618 GP1BB / P13224 / glycoprotein Ib platelet beta subunit  / reaction / complex
 ENSG00000181104 F2R / P25116 / coagulation factor II thrombin receptor  / reaction / complex
 ENSG00000178732 GP5 / P40197 / glycoprotein V platelet  / reaction / complex
 ENSG00000171557 FGG / P02679 / fibrinogen gamma chain  / reaction
 ENSG00000178726 THBD / P07204 / thrombomodulin  / complex / reaction
 ENSG00000088926 F11 / P03951 / coagulation factor XI  / reaction
 ENSG00000126218 F10 / P00742 / coagulation factor X  / reaction






 

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