F2 (coagulation factor II, thrombin) - Rat Genome Database

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Gene: F2 (coagulation factor II, thrombin) Homo sapiens
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Symbol: F2
Name: coagulation factor II, thrombin
RGD ID: 1353256
HGNC Page HGNC:3535
Description: Enables several functions, including heparin binding activity; lipopolysaccharide binding activity; and serine-type endopeptidase activity. Involved in several processes, including blood coagulation; defense response to other organism; and regulation of blood coagulation. Located in extracellular space and serine-type endopeptidase complex. Colocalizes with external side of plasma membrane. Implicated in several diseases, including X-linked recessive disease (multiple); appendicitis; artery disease (multiple); autoimmune disease (multiple); and thrombophilia (multiple). Biomarker of several diseases, including angioedema (multiple); autoimmune disease (multiple); glucose metabolism disease (multiple); liver disease (multiple); and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: coagulation factor II; coagulation factor II (thrombin); prepro-coagulation factor II; prothrombin; prothrombin B-chain; PT; RPRGL2; serine protease; THPH1; thrombin factor II
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,719,213 - 46,739,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,719,196 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,740,763 - 46,761,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,697,331 - 46,717,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,697,330 - 46,717,631NCBI
Celera1146,888,702 - 46,909,014 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,446,660 - 46,466,973 (+)NCBIHuRef
CHM1_11146,739,149 - 46,759,462 (+)NCBICHM1_1
T2T-CHM13v2.01146,875,235 - 46,896,332 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acquired angioedema  (IEP)
Acute Coronary Syndrome  (IEP)
Acute Lung Injury  (ISO)
allergic rhinitis  (IEP)
Alzheimer's disease  (EXP)
appendicitis  (IDA)
asthma  (IEP)
atherosclerosis  (ISO)
atopic dermatitis  (IEP)
autoimmune hepatitis  (IDA,IEP)
bacterial pneumonia  (ISO)
blood coagulation disease  (EXP)
brain edema  (ISO)
Brain Injuries  (IDA)
brain ischemia  (EXP)
bullous pemphigoid  (IEP)
calcium oxalate nephrolithiasis  (ISO)
carotid stenosis  (IAGP)
celiac disease  (IDA)
Cerebral Hemorrhage  (IEP)
cerebral infarction  (IAGP)
cerebral palsy  (IAGP)
Chagas disease  (IEP)
chronic obstructive pulmonary disease  (IEP)
clear cell renal cell carcinoma  (IEP)
congenital disorder of glycosylation type IIc  (IAGP)
Congenital Prothrombin Deficiency  (IAGP)
Contusions  (ISO)
coronary artery disease  (IDA)
COVID-19  (IEP)
Crohn's disease  (IEP)
dengue disease  (IDA)
Diabetic Nephropathies  (IAGP,IEP)
disseminated intravascular coagulation  (EXP,IEP,ISO)
end stage renal disease  (ISO)
Endotoxemia  (IEP,ISO)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
eye disease  (IAGP)
factor VIII deficiency  (IDA)
Familial Amyloid Polyneuropathies  (IEP)
familial Mediterranean fever  (IEP)
fatty liver disease  (EXP)
Femur Head Necrosis  (IAGP)
genetic disease  (IAGP)
glomerulonephritis  (IDA,IEP)
hemolytic-uremic syndrome  (IEP)
hemophilia B  (IDA)
Hemorrhage  (EXP,ISO)
Hemorrhagic Shock  (ISO)
hepatitis C  (IEP)
hepatocellular carcinoma  (EXP,IEP)
hereditary angioedema  (IEP)
herpes zoster  (IMP)
high grade glioma  (ISO)
Human Viral Hepatitis  (IDA)
Huntington's disease  (IEP)
Hyperalgesia  (ISO)
hyperglycemia  (IEP)
hyperhomocysteinemia  (ISO)
Hypertrophy  (EXP)
intellectual disability  (IAGP)
intracranial sinus thrombosis  (EXP)
Kidney Calculi  (IAGP)
Knee Osteoarthritis  (IDA)
leptospirosis  (IEP)
liver cirrhosis  (EXP,IEP)
Liver Failure  (EXP,IEP)
Mesenteric Ischemia  (EXP)
middle cerebral artery infarction  (EXP)
myocardial infarction  (EXP,IAGP)
Neoplasm Metastasis  (IEP)
nephrosis  (EXP,ISO)
Nerve Degeneration  (EXP)
non-alcoholic fatty liver disease  (EXP)
obesity  (EXP,IEP,ISO)
ovarian cancer  (IEP)
Paratuberculosis  (EXP)
Pediatric Crohn's Disease  (IEP)
portal vein thrombosis  (IEP)
pre-eclampsia  (IAGP)
prostate cancer  (IAGP)
prothrombin deficiency  (EXP,IAGP)
pulmonary embolism  (IAGP)
pulmonary fibrosis  (ISO)
Reperfusion Injury  (ISO)
retinal vein occlusion  (IAGP,IDA)
rheumatoid arthritis  (EXP)
schizophrenia  (EXP)
sensorineural hearing loss  (IAGP,IDA)
Sepsis  (IEP,ISO)
Septic Peritonitis  (ISO)
sickle cell anemia  (IEP,ISO)
Spinal Cord Injuries  (ISO)
Spontaneous Abortions  (EXP,IAGP)
Stroke  (EXP,IMP)
systemic lupus erythematosus  (IAGP,IDA)
systemic scleroderma  (IEP)
Thromboembolism  (EXP,IAGP,IEP)
thrombophilia  (EXP,ISO)
thrombophilia due to thrombin defect  (IAGP)
thrombosis  (EXP,IAGP,ISO)
toxic shock syndrome  (IEP)
type 2 diabetes mellitus  (IEP)
ulcerative colitis  (IEP)
urinary bladder cancer  (IEP)
Urinary Calculi  (IDA)
urticaria  (IEP)
vascular skin disease  (EXP)
Venous Thromboembolism  (EXP,IAGP,IEP)
Venous Thrombosis  (EXP,IAGP,ISO)
Ventricular Dysfunction, Left  (IEP)
Ventricular Fibrillation  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(2R,4R)-1-[(2S)-5-(diaminomethylideneamino)-2-[(3-methyl-1,2,3,4-tetrahydroquinolin-8-yl)sulfonylamino]-1-oxopentyl]-4-methyl-2-piperidinecarboxylic acid  (EXP,ISO)
(S)-colchicine  (EXP)
(S)-nicotine  (EXP)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,3-diphenyl-N-(1-phenylethyl)-1-propanamine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acenocoumarol  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amidotrizoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (EXP)
argatroban  (EXP,ISO)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
aspalathin  (EXP)
aspartame  (EXP)
atorvastatin calcium  (EXP)
ATP  (EXP,ISO)
atropine  (ISO)
barium(0)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bivalirudin  (EXP)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcium atom  (EXP)
calcium dichloride  (EXP)
calcium(0)  (EXP)
calmidazolium  (EXP)
capsaicin  (ISO)
cerivastatin  (EXP)
chlorogenic acid  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
clobazam  (EXP)
clopidogrel  (ISO)
clothianidin  (EXP)
cobalt atom  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dabigatran  (EXP,ISO)
dermatan sulfate  (EXP)
dexamethasone  (EXP,ISO)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
dienogest  (EXP)
Difethialone  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
eptifibatide  (EXP)
Ethyl icosapentate  (ISO)
etonogestrel  (ISO)
fenofibrate  (EXP)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gestodene  (EXP)
heparin  (EXP,ISO)
hydrocortisone succinate  (EXP)
indometacin  (EXP)
ioxaglic acid  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
iron(2+) sulfate (anhydrous)  (EXP)
iron(III) citrate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lepirudin  (EXP)
lipopolysaccharide  (ISO)
LY294002  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
medroxyprogesterone acetate  (EXP,ISO)
melagatran  (EXP)
methidathion  (ISO)
methotrexate  (EXP)
ML-7  (EXP,ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
nickel atom  (EXP)
nicotine  (EXP)
nimesulide  (EXP,ISO)
nitric oxide  (EXP)
nitrofen  (ISO)
NS-398  (EXP)
ochratoxin A  (ISO)
olanzapine  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (ISO)
paraquat  (ISO)
PCB138  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenprocoumon  (ISO)
phenytoin  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidylinositol 4-phosphate  (EXP)
phylloquinone  (EXP)
pirinixic acid  (ISO)
potassium chloride  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
prostaglandin E2  (EXP,ISO)
quercetin  (EXP)
quinapril hydrochloride  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
splitomicin  (EXP)
tamoxifen  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thromboxane A2  (EXP)
thromboxane B2  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
trovafloxacin  (ISO)
U-73122  (EXP)
valproic acid  (EXP)
venom  (EXP)
vincristine  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
warfarin  (EXP,ISO)
ximelagatran  (EXP)
Y-27632  (EXP)
zinc atom  (EXP)
zinc protoporphyrin  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (IEA)
antimicrobial humoral immune response mediated by antimicrobial peptide  (IDA)
blood coagulation  (IEA,ISO,TAS)
blood coagulation, common pathway  (IDA,NAS)
cell surface receptor signaling pathway  (IDA)
cellular response to mechanical stimulus  (ISO)
cytolysis by host of symbiont cells  (IDA)
fibrinolysis  (IDA)
hemostasis  (IEA)
ion channel modulating, G protein-coupled receptor signaling pathway  (IEA)
ligand-gated ion channel signaling pathway  (IEA)
negative regulation of astrocyte differentiation  (IDA)
negative regulation of blood coagulation  (NAS)
negative regulation of cytokine production involved in inflammatory response  (IDA)
negative regulation of fibrinolysis  (TAS)
negative regulation of platelet activation  (TAS)
negative regulation of proteolysis  (IDA)
neutrophil-mediated killing of gram-negative bacterium  (IDA)
platelet activation  (IBA,IDA,IEA,ISO)
positive regulation of blood coagulation  (IBA,IDA,ISO)
positive regulation of cell growth  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of collagen biosynthetic process  (IDA)
positive regulation of insulin secretion  (IEA)
positive regulation of lipid kinase activity  (IDA)
positive regulation of phosphatidylinositol 3-kinase signaling  (IEA,ISO)
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA)
positive regulation of protein localization to nucleus  (IDA)
positive regulation of protein phosphorylation  (IDA)
positive regulation of reactive oxygen species metabolic process  (IDA)
positive regulation of receptor signaling pathway via JAK-STAT  (NAS)
positive regulation of release of sequestered calcium ion into cytosol  (IDA)
proteolysis  (IDA,IEA,NAS,TAS)
regulation of blood coagulation  (TAS)
regulation of body fluid levels  (IEA)
regulation of cell shape  (IEA,ISO)
regulation of cytosolic calcium ion concentration  (IDA)
regulation of gene expression  (IEA,ISO)
response to inactivity  (ISO)
response to Thyroglobulin triiodothyronine  (ISO)
response to thyrotropin-releasing hormone  (ISO)
response to thyroxine  (ISO)
response to wounding  (IDA)
zymogen activation  (IDA,NAS)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Akhavan S, etal., Thromb Haemost. 2000 Dec;84(6):989-97.
2. Hypercoagulability: interaction between inflammation and coagulation in familial Mediterranean fever. Aksu G, etal., Clin Rheumatol. 2007 Mar;26(3):366-70. doi: 10.1007/s10067-006-0334-y. Epub 2006 May 24.
3. Continuous Active State of Coagulation System in Patients With Nonthrombotic Inflammatory Bowel Disease. Alkim H, etal., Clin Appl Thromb Hemost. 2011 May 17.
4. The coagulation/fibrinolysis balance in systemic sclerosis: evidence for a haematological stress syndrome. Ames PR, etal., Br J Rheumatol. 1997 Oct;36(10):1045-50.
5. Genetic diminution of circulating prothrombin ameliorates multiorgan pathologies in sickle cell disease mice. Arumugam PI, etal., Blood. 2015 Oct 8;126(15):1844-55. doi: 10.1182/blood-2015-01-625707. Epub 2015 Aug 18.
6. Markers of autoreactivity, coagulation and angiogenesis in patients with nonallergic asthma. Asero R, etal., Allergy. 2011 Jun 10. doi: 10.1111/j.1398-9995.2011.02668.x.
7. Prediction of venous thromboembolism in patients with cancer by measuring thrombin generation: results from the Vienna Cancer and Thrombosis Study. Ay C, etal., J Clin Oncol. 2011 May 20;29(15):2099-103. Epub 2011 Apr 4.
8. Thrombin generation in type 2 diabetes with albuminuria and macrovascular disease. Ay L, etal., Eur J Clin Invest. 2012 May;42(5):470-7. doi: 10.1111/j.1365-2362.2011.02602.x. Epub 2011 Sep 28.
9. Thrombin generation in pediatric patients with Crohn's disease. Bernhard H, etal., Inflamm Bowel Dis. 2011 Feb 1. doi: 10.1002/ibd.21631.
10. Thrombin mutant W215A/E217A treatment improves neurological outcome and reduces cerebral infarct size in a mouse model of ischemic stroke. Berny-Lang MA, etal., Stroke. 2011 Jun;42(6):1736-41. Epub 2011 Apr 21.
11. Antiinflammatory and antifibrotic effects of the oral direct thrombin inhibitor dabigatran etexilate in a murine model of interstitial lung disease. Bogatkevich GS, etal., Arthritis Rheum. 2011 May;63(5):1416-25. doi: 10.1002/art.30255.
12. Mechanisms of anticoagulant and cytoprotective actions of the protein C pathway. Bouwens EA, etal., J Thromb Haemost. 2013 Jun;11 Suppl 1:242-53. doi: 10.1111/jth.12247.
13. Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-gene interaction. Butt C, etal., Blood. 2003 Apr 15;101(8):3037-41. Epub 2002 Dec 12.
14. Increased blood coagulation and platelet activation in patients with infective endocarditis and embolic events. Buyukasýk NS, etal., Clin Cardiol. 2004 Mar;27(3):154-8. doi: 10.1002/clc.4960270312.
15. Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients. Cadoni G, etal., Ann Otol Rhinol Laryngol. 2006 Mar;115(3):195-200.
16. Genetic and acquired prothrombotic risk factors and sudden hearing loss. Capaccio P, etal., Laryngoscope. 2007 Mar;117(3):547-51.
17. A hypercoagulable and hypofibrinolytic state is detectable by global methods in patients with retinal vein occlusion. Cellai AP, etal., Atherosclerosis. 2012 Sep;224(1):97-101. doi: 10.1016/j.atherosclerosis.2012.06.053. Epub 2012 Jul 3.
18. Thrombin mediates severe neurovascular injury during ischemia. Chen B, etal., Stroke. 2010 Oct;41(10):2348-52. Epub 2010 Aug 12.
19. Multiplexed quantification of 63 proteins in human urine by multiple reaction monitoring-based mass spectrometry for discovery of potential bladder cancer biomarkers. Chen YT, etal., J Proteomics. 2012 Jun 27;75(12):3529-45. Epub 2012 Jan 3.
20. Activation of the coagulation cascade in patients with leptospirosis. Chierakul W, etal., Clin Infect Dis. 2008 Jan 15;46(2):254-60. doi: 10.1086/524664.
21. Upregulation of neurotoxic serine proteases, prothrombin, and protease-activated receptor 1 early after spinal cord injury. Citron BA, etal., J Neurotrauma. 2000 Dec;17(12):1191-203.
22. Prevalence and association of the factor V Leiden and prothrombin G20210A in healthy subjects and patients with venous thromboembolism. Coen D, etal., Croat Med J. 2001 Aug;42(4):488-92.
23. Nebulized anticoagulants limit coagulopathy but not inflammation in pseudomonas aeruginosa-induced pneumonia in rats. Cornet AD, etal., Shock. 2011 Oct;36(4):417-23.
24. MTHFR C677T mutation, factor II G20210A mutation and factor V Leiden as risks factor for youth retinal vein occlusion. Cruciani F, etal., Clin Ter. 2003 Sep-Oct;154(5):299-303.
25. Activation of the coagulation cascade in C1-inhibitor deficiencies. Cugno M, etal., Blood. 1997 May 1;89(9):3213-8.
26. Acute coagulopathy of trauma in the rat. Darlington DN, etal., Shock. 2013 May;39(5):440-6. doi: 10.1097/SHK.0b013e31829040e3.
27. Fructose-1,6-bisphosphate inhibits in vitro and ex vivo platelet aggregation induced by ADP and ameliorates coagulation alterations in experimental sepsis in rats. de Oliveira LM, etal., J Thromb Thrombolysis. 2010 May;29(4):387-94. doi: 10.1007/s11239-009-0387-2. Epub 2009 Aug 25.
28. Functional polymorphisms of the coagulation factor II gene (F2) and susceptibility to systemic lupus erythematosus. Demirci FY, etal., J Rheumatol. 2011 Apr;38(4):652-7. Epub 2011 Jan 15.
29. The 3'end prothrombin gene variants in patients with different thrombotic events. Djordjevic V, etal., Lab Med. 2014 Fall;45(4):309-14. doi: 10.1309/LM8E84ZSLPDMWZCM.
30. Thrombin generation in trauma patients. Dunbar NM and Chandler WL, Transfusion. 2009 Dec;49(12):2652-60. doi: 10.1111/j.1537-2995.2009.02335.x. Epub 2009 Aug 4.
31. Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40.
32. Thrombophilia and avascular necrosis of femoral head in kidney allograft recipients. Ekmekci Y, etal., Nephrol Dial Transplant. 2006 Dec;21(12):3555-8. Epub 2006 Sep 12.
33. Assessment of markers of thrombin generation in patients with acute myocardial infarction complicated by ventricular fibrillation. Elmas E, etal., Clin Cardiol. 2006 Apr;29(4):165-9.
34. Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery. Emiroglu O, etal., J Cardiothorac Surg. 2011 Sep 28;6:120.
35. The protein C pathway. Esmon CT, Chest. 2003 Sep;124(3 Suppl):26S-32S.
36. The development of inflammatory joint disease is attenuated in mice expressing the anticoagulant prothrombin mutant W215A/E217A. Flick MJ, etal., Blood. 2011 Jun 9;117(23):6326-37. Epub 2011 Mar 24.
37. Cross Talk Pathways Between Coagulation and Inflammation. Foley JH and Conway EM, Circ Res. 2016 Apr 29;118(9):1392-408. doi: 10.1161/CIRCRESAHA.116.306853.
38. The in vivo kinetics of tissue factor messenger RNA expression during human endotoxemia: relationship with activation of coagulation. Franco RF, etal., Blood. 2000 Jul 15;96(2):554-9.
39. A specific thrombin inhibitor, argatroban, alleviates herpes zoster-associated pain. Fujii K, etal., J Dermatol. 2001 Apr;28(4):200-7. doi: 10.1111/j.1346-8138.2001.tb00118.x.
40. Metabolic, inflammatory, endothelial and haemostatic markers in a group of Italian obese children and adolescents. Giordano P, etal., Eur J Pediatr. 2011 Jul;170(7):845-50. Epub 2011 Jan 6.
41. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
42. Renal prothrombin mRNA is significantly decreased in a hyperoxaluric rat model of nephrolithiasis. Grover PK, etal., J Pathol. 2006 Nov;210(3):273-81.
43. Factor V Leiden mutation and PAI-1 gene 4G/5G genotype in thrombotic patients with Behcet's disease. Gurgey A, etal., Blood Coagul Fibrinolysis. 2003 Feb;14(2):121-4.
44. Recombinant human prothrombin (MEDI8111) prevents bleeding in haemophilia A and B mice. Hansson KM, etal., Haemophilia. 2016 May;22(3):453-61. doi: 10.1111/hae.12861. Epub 2015 Dec 3.
45. The Acute Coagulopathy of Trauma is Due to Impaired Initial Thrombin Generation but Not Clot Formation or Clot Strength. Harr JN, etal., J Surg Res. 2011 Apr 17.
46. Thrombin-cleaved osteopontin levels in synovial fluid correlate with disease severity of knee osteoarthritis. Hasegawa M, etal., J Rheumatol. 2011 Jan;38(1):129-34. Epub 2010 Nov 1.
47. Antithrombotic activity of kininogen is mediated by inhibitory effects of domain 3 during arterial injury in vivo. Hassan S, etal., Am J Physiol Heart Circ Physiol. 2007 Jun;292(6):H2959-65. Epub 2007 Feb 9.
48. Inflammatory and Prothrombotic Activation With Conserved Endothelial Function in Patients With Chronic, Asymptomatic Chagas Disease. Herrera RN, etal., Clin Appl Thromb Hemost. 2010 Aug 10.
49. The role of thrombin in gliomas. Hua Y, etal., J Thromb Haemost. 2005 Sep;3(9):1917-23. Epub 2005 Jun 24.
50. Increased prothrombin, apolipoprotein A-IV, and haptoglobin in the cerebrospinal fluid of patients with Huntington's disease. Huang YC, etal., PLoS One. 2011 Jan 31;6(1):e15809.
51. Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia. Iwahana H, etal., Int J Hematol. 1992 Feb;55(1):93-100.
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PMID:23919450   PMID:23927452   PMID:23940050   PMID:23955016   PMID:23983171   PMID:23988350   PMID:24008520   PMID:24039253   PMID:24060191   PMID:24083963   PMID:24097068   PMID:24097976  
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PMID:27664389   PMID:27664391   PMID:27679489   PMID:27774643   PMID:27776253   PMID:27815482   PMID:27874042   PMID:27975099   PMID:28075532   PMID:28085526   PMID:28104608   PMID:28160964  
PMID:28166112   PMID:28196451   PMID:28219843   PMID:28276481   PMID:28276727   PMID:28296720   PMID:28327460   PMID:28350991   PMID:28384634   PMID:28407300   PMID:28428115   PMID:28429138  
PMID:28448853   PMID:28454850   PMID:28460288   PMID:28477533   PMID:28488549   PMID:28505525   PMID:28561879   PMID:28569919   PMID:28650134   PMID:28652441   PMID:28683085   PMID:28684417  
PMID:28707429   PMID:28771277   PMID:28801460   PMID:28869458   PMID:29051591   PMID:29075790   PMID:29141676   PMID:29192630   PMID:29226645   PMID:29277264   PMID:29321328   PMID:29331940  
PMID:29363996   PMID:29428600   PMID:29454086   PMID:29511224   PMID:29616413   PMID:29634247   PMID:29690772   PMID:29717027   PMID:29724819   PMID:29879466   PMID:29895622   PMID:29974397  
PMID:30031291   PMID:30093507   PMID:30200836   PMID:30357392   PMID:30366247   PMID:30408635   PMID:30471916   PMID:30578302   PMID:30727925   PMID:30784776   PMID:30792421   PMID:30854929  
PMID:30861432   PMID:30903876   PMID:30948266   PMID:30970085   PMID:31025572   PMID:31164248   PMID:31420170   PMID:31444378   PMID:31472339   PMID:31501046   PMID:31515268   PMID:31520401  
PMID:31582550   PMID:31736051   PMID:31862363   PMID:31875702   PMID:31892516   PMID:31974511   PMID:31994856   PMID:32040579   PMID:32083344   PMID:32131129   PMID:32156702   PMID:32557225  
PMID:32594420   PMID:32647187   PMID:32665403   PMID:32736707   PMID:32769241   PMID:32780723   PMID:32814053   PMID:32818017   PMID:32871439   PMID:32932543   PMID:33036569   PMID:33086557  
PMID:33276061   PMID:33376137   PMID:33392917   PMID:33400068   PMID:33433957   PMID:33441513   PMID:33450154   PMID:33470184   PMID:33529332   PMID:33560006   PMID:33588106   PMID:33592631  
PMID:33628341   PMID:33672736   PMID:33833254   PMID:33961781   PMID:34015010   PMID:34117131   PMID:34572544   PMID:34628704   PMID:34650049   PMID:34978431   PMID:35294338   PMID:35509820  
PMID:36355755  


Genomics

Comparative Map Data
F2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,719,213 - 46,739,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,719,196 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,740,763 - 46,761,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,697,331 - 46,717,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,697,330 - 46,717,631NCBI
Celera1146,888,702 - 46,909,014 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,446,660 - 46,466,973 (+)NCBIHuRef
CHM1_11146,739,149 - 46,759,462 (+)NCBICHM1_1
T2T-CHM13v2.01146,875,235 - 46,896,332 (+)NCBIT2T-CHM13v2.0
F2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,442,742 - 91,466,802 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,455,665 - 91,466,759 (-)EnsemblGRCm39 Ensembl
GRCm38291,612,397 - 91,636,457 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,625,320 - 91,636,414 (-)EnsemblGRCm38mm10GRCm38
MGSCv37291,465,477 - 91,476,571 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,426,159 - 91,437,253 (-)NCBIMGSCv36mm8
Celera293,014,831 - 93,025,920 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
F2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2377,596,196 - 77,609,486 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,596,198 - 77,609,486 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,071,217 - 81,084,670 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0389,670,242 - 89,683,695 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0387,521,762 - 87,534,981 (-)NCBIRnor_WKY
Rnor_6.0380,529,468 - 80,542,993 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl380,529,428 - 80,543,031 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,228,703 - 87,242,228 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,005,318 - 76,018,603 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1375,901,694 - 75,914,982 (-)NCBI
Celera376,801,000 - 76,814,280 (-)NCBICelera
Cytogenetic Map3q24NCBI
F2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,356,769 - 1,367,517 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,356,675 - 1,367,788 (-)NCBIChiLan1.0ChiLan1.0
F2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11147,227,891 - 47,249,157 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1147,227,891 - 47,249,157 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01146,669,925 - 46,690,391 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
F2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11842,782,744 - 42,799,531 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1842,782,751 - 42,799,459 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,511,662 - 41,528,485 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,438,760 - 43,455,850 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1843,438,759 - 43,455,806 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11842,924,063 - 42,940,888 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,479,219 - 42,496,510 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,208,980 - 43,225,802 (-)NCBIUU_Cfam_GSD_1.0
F2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,260,330 - 20,277,033 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365622,372,044 - 2,388,650 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365622,371,725 - 2,388,617 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl215,791,455 - 15,819,137 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,793,257 - 15,819,151 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,145,002 - 17,170,975 (-)NCBISscrofa10.2Sscrofa10.2susScr3
F2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247671,877,024 - 1,887,958 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247671,876,974 - 1,887,720 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in F2
113 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1357
Count of miRNA genes:652
Interacting mature miRNAs:768
Transcripts:ENST00000311907, ENST00000442468, ENST00000469189, ENST00000490274, ENST00000530231
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH17520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,760,306 - 46,760,427UniSTSGRCh37
Build 361146,716,882 - 46,717,003RGDNCBI36
Celera1146,908,264 - 46,908,385RGD
Cytogenetic Map11p11UniSTS
HuRef1146,466,223 - 46,466,344UniSTS
GeneMap99-GB4 RH Map11167.21UniSTS
RH80273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,760,959 - 46,761,177UniSTSGRCh37
Build 361146,717,535 - 46,717,753RGDNCBI36
Celera1146,908,917 - 46,909,135RGD
Cytogenetic Map11p11UniSTS
HuRef1146,466,876 - 46,467,094UniSTS
STS-H75495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,759,840 - 46,759,970UniSTSGRCh37
Build 361146,716,416 - 46,716,546RGDNCBI36
Celera1146,907,798 - 46,907,928RGD
Cytogenetic Map11p11UniSTS
HuRef1146,465,757 - 46,465,887UniSTS
GeneMap99-GB4 RH Map11165.96UniSTS
STS-W73782  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11UniSTS
GeneMap99-GB4 RH Map11166.62UniSTS
GDB:196314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,747,929 - 46,748,004UniSTSGRCh37
Celera1146,895,889 - 46,895,964UniSTS
Cytogenetic Map11p11UniSTS
GDB:196315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,747,929 - 46,748,003UniSTSGRCh37
Celera1146,895,889 - 46,895,963UniSTS
Cytogenetic Map11p11UniSTS
HuRef1146,453,847 - 46,453,921UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 122 122 122
Medium 5 3 314 314 2 314 1 1 1 9 6 5 2
Low 528 510 51 15 76 16 442 149 540 88 484 51 20 380
Below cutoff 1756 2175 937 119 1193 8 2748 1711 2798 193 777 1024 120 824 1773 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC115088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF478696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ544114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ972449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY344793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY344794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS355181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA638868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB183734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF363122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S50162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311907   ⟹   ENSP00000308541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,213 - 46,739,506 (+)Ensembl
RefSeq Acc Id: ENST00000442468   ⟹   ENSP00000387413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,309 - 46,726,626 (+)Ensembl
RefSeq Acc Id: ENST00000469189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,196 - 46,720,192 (+)Ensembl
RefSeq Acc Id: ENST00000490274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,723,180 - 46,726,064 (+)Ensembl
RefSeq Acc Id: ENST00000530231   ⟹   ENSP00000433907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,231 - 46,739,500 (+)Ensembl
RefSeq Acc Id: NM_000506   ⟹   NP_000497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,719,213 - 46,739,506 (+)NCBI
GRCh371146,740,743 - 46,761,056 (+)ENTREZGENE
Build 361146,697,331 - 46,717,631 (+)NCBI Archive
HuRef1146,446,660 - 46,466,973 (+)ENTREZGENE
CHM1_11146,739,122 - 46,759,464 (+)NCBI
T2T-CHM13v2.01146,875,235 - 46,896,332 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000497   ⟸   NM_000506
- Peptide Label: preproprotein
- UniProtKB: Q9UCA1 (UniProtKB/Swiss-Prot),   P00734 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000433907   ⟸   ENST00000530231
RefSeq Acc Id: ENSP00000387413   ⟸   ENST00000442468
RefSeq Acc Id: ENSP00000308541   ⟸   ENST00000311907
Protein Domains
Gla   Kringle   Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00734-F1-model_v2 AlphaFold P00734 1-622 view protein structure

Promoters
RGD ID:7220203
Promoter ID:EPDNEW_H15847
Type:initiation region
Name:F2_1
Description:coagulation factor II, thrombin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,719,213 - 46,719,273EPDNEW

Clinical Variants
<
Name Type Condition(s) Position(s) Clinical significance
NM_000506.5(F2):c.1787G>T (p.Arg596Leu) single nucleotide variant Thrombophilia due to thrombin defect [RCV000024607] Chr11:46739326 [GRCh38]
Chr11:46760876 [GRCh37]
Chr11:11p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000506.5:c.260A>G single nucleotide variant Prothrombin deficiency, congenital [RCV000022730] Chr11:11p11-q12 pathogenic
NM_000506.3(F2):c.598G>A (p.Glu200Lys) single nucleotide variant Cerebral palsy [RCV001794445]|Congenital prothrombin deficiency [RCV001108917]|PROTHROMBIN TYPE 3 [RCV000014229]|Thrombophilia due to thrombin defect [RCV001108918]|not provided [RCV000994617] Chr11:46725897 [GRCh38]
Chr11:46747447 [GRCh37]
Chr11:11p11.2
pathogenic|risk factor|benign|uncertain significance
NM_000506.3(F2):c.940C>T (p.Arg314Cys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014230] Chr11:46726563 [GRCh38]
Chr11:46748113 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) single nucleotide variant Hereditary factor II deficiency disease [RCV000014231] Chr11:46728746 [GRCh38]
Chr11:46750296 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014232] Chr11:46728138 [GRCh38]
Chr11:46749688 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1802G>T (p.Gly601Val) single nucleotide variant Hereditary factor II deficiency disease [RCV000014233] Chr11:46739341 [GRCh38]
Chr11:46760891 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1139T>C (p.Met380Thr) single nucleotide variant Hereditary factor II deficiency disease [RCV000014234] Chr11:46728004 [GRCh38]
Chr11:46749554 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1292G>A (p.Arg431His) single nucleotide variant DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II [RCV000014235] Chr11:46728157 [GRCh38]
Chr11:46749707 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) insertion Congenital prothrombin deficiency [RCV000014236] Chr11:46723421..46723422 [GRCh38]
Chr11:46744971..46744972 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.5(F2):c.*97G>A single nucleotide variant Cerebral palsy [RCV001794446]|Congenital prothrombin deficiency [RCV000205022]|Hereditary factor II deficiency disease [RCV000991171]|Ischemic stroke [RCV000014238]|Pregnancy loss, recurrent, susceptibility to, 2 [RCV000022729]|Thrombophilia due to thrombin defect [RCV000014237]|Venous thromboembolism [RCV000826090]|not provided [RCV001091960] Chr11:46739505 [GRCh38]
Chr11:46761055 [GRCh37]
Chr11:11p11.2
pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014239] Chr11:46726734 [GRCh38]
Chr11:46748284 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014240] Chr11:46726761 [GRCh38]
Chr11:46748311 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.5(F2):c.1274G>A (p.Arg425His) single nucleotide variant Hereditary factor II deficiency disease [RCV000014241] Chr11:46728139 [GRCh38]
Chr11:46749689 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) single nucleotide variant Hereditary factor II deficiency disease [RCV000014242] Chr11:46739324 [GRCh38]
Chr11:46760874 [GRCh37]
Chr11:11p11.2
pathogenic
NM_000506.5(F2):c.355_356insCA (p.His119fs) insertion F2-Related Disorders [RCV000778325] Chr11:46723218..46723219 [GRCh38]
Chr11:46744768..46744769 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
NM_000506.5(F2):c.734del (p.Leu245fs) deletion Malignant tumor of prostate [RCV000149003] Chr11:46726033 [GRCh38]
Chr11:46747583 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1726-59G>A single nucleotide variant Thrombophilia due to thrombin defect [RCV000133511]|not provided [RCV001618292] Chr11:46739206 [GRCh38]
Chr11:46760756 [GRCh37]
Chr11:11p11.2
benign|uncertain significance|not provided
NM_000506.5(F2):c.*96C>T single nucleotide variant Thrombophilia due to thrombin defect [RCV000133510] Chr11:46739504 [GRCh38]
Chr11:46761054 [GRCh37]
Chr11:11p11.2
uncertain significance|not provided
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) single nucleotide variant not provided [RCV001781072] Chr11:46729406 [GRCh38]
Chr11:46750956 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3 copy number gain See cases [RCV000141333] Chr11:46420955..46728372 [GRCh38]
Chr11:46442505..46749922 [GRCh37]
Chr11:46399081..46706498 [NCBI36]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.494C>T (p.Thr165Met) single nucleotide variant Congenital prothrombin deficiency [RCV000306522]|Thrombophilia due to thrombin defect [RCV000396446]|not provided [RCV001610577]|not specified [RCV000243525] Chr11:46723453 [GRCh38]
Chr11:46745003 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000506.5(F2):c.1824C>T (p.Arg608=) single nucleotide variant Congenital prothrombin deficiency [RCV001103849]|Thrombophilia due to thrombin defect [RCV001103850]|not provided [RCV000952961]|not specified [RCV000243833] Chr11:46739363 [GRCh38]
Chr11:46760913 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_000506.5(F2):c.480C>T (p.Pro160=) single nucleotide variant Congenital prothrombin deficiency [RCV000346101]|Thrombophilia due to thrombin defect [RCV000291132]|not provided [RCV001722291]|not specified [RCV000251721] Chr11:46723439 [GRCh38]
Chr11:46744989 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000506.5(F2):c.423-7G>C single nucleotide variant Congenital prothrombin deficiency [RCV000396449]|Thrombophilia due to thrombin defect [RCV000340341]|not provided [RCV001682981]|not specified [RCV000246968] Chr11:46723375 [GRCh38]
Chr11:46744925 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_000506.5(F2):c.1602G>A (p.Pro534=) single nucleotide variant Congenital prothrombin deficiency [RCV000271684]|Thrombophilia due to thrombin defect [RCV000359671]|not specified [RCV000252009] Chr11:46729509 [GRCh38]
Chr11:46751059 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_000506.5(F2):c.1233G>A (p.Pro411=) single nucleotide variant Congenital prothrombin deficiency [RCV000351751]|Thrombophilia due to thrombin defect [RCV000294539]|not provided [RCV001689798]|not specified [RCV000247247] Chr11:46728098 [GRCh38]
Chr11:46749648 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_000506.3(F2):c.*292G>A single nucleotide variant not specified [RCV000242460] Chr11:46739700 [GRCh38]
Chr11:46761250 [GRCh37]
Chr11:11p11.2
likely benign
NM_000506.5(F2):c.317-4G>A single nucleotide variant Congenital prothrombin deficiency [RCV000915429]|Thrombophilia due to thrombin defect [RCV000379735] Chr11:46723176 [GRCh38]
Chr11:46744726 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000506.5(F2):c.882C>T (p.Ala294=) single nucleotide variant Congenital prothrombin deficiency [RCV000380002]|Thrombophilia due to thrombin defect [RCV000323014] Chr11:46726505 [GRCh38]
Chr11:46748055 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) single nucleotide variant Congenital prothrombin deficiency [RCV000884570]|Thrombophilia due to thrombin defect [RCV000333070] Chr11:46729535 [GRCh38]
Chr11:46751085 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_000506.5(F2):c.978G>A (p.Pro326=) single nucleotide variant Congenital prothrombin deficiency [RCV000291373]|Thrombophilia due to thrombin defect [RCV000383386] Chr11:46726601 [GRCh38]
Chr11:46748151 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.813C>T (p.Gly271=) single nucleotide variant Congenital prothrombin deficiency [RCV000883131]|Thrombophilia due to thrombin defect [RCV000353454] Chr11:46726112 [GRCh38]
Chr11:46747662 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_000506.5(F2):c.1815T>C (p.His605=) single nucleotide variant Congenital prothrombin deficiency [RCV000389842]|Thrombophilia due to thrombin defect [RCV000293256] Chr11:46739354 [GRCh38]
Chr11:46760904 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.79+7G>A single nucleotide variant Congenital prothrombin deficiency [RCV000956935]|Thrombophilia due to thrombin defect [RCV000279364]|not provided [RCV001618530]|not specified [RCV001823724] Chr11:46719321 [GRCh38]
Chr11:46740871 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_000506.5(F2):c.798C>T (p.Asp266=) single nucleotide variant Hereditary factor II deficiency disease [RCV000300968]|Thrombophilia due to thrombin defect [RCV000262207] Chr11:46726097 [GRCh38]
Chr11:46747647 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1541A>G (p.Asn514Ser) single nucleotide variant Congenital prothrombin deficiency [RCV000360697]|Thrombophilia due to thrombin defect [RCV000298925] Chr11:46729448 [GRCh38]
Chr11:46750998 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.992C>T (p.Ser331Leu) single nucleotide variant Congenital prothrombin deficiency [RCV000382049]|Thrombophilia due to thrombin defect [RCV000343719] Chr11:46726615 [GRCh38]
Chr11:46748165 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.559+5G>A single nucleotide variant Congenital prothrombin deficiency [RCV000390428]|Thrombophilia due to thrombin defect [RCV000370626] Chr11:46723523 [GRCh38]
Chr11:46745073 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.*44G>T single nucleotide variant Congenital prothrombin deficiency [RCV000350332]|Thrombophilia due to thrombin defect [RCV000374586] Chr11:46739452 [GRCh38]
Chr11:46761002 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.915G>A (p.Glu305=) single nucleotide variant Congenital prothrombin deficiency [RCV000321688]|Thrombophilia due to thrombin defect [RCV000264279] Chr11:46726538 [GRCh38]
Chr11:46748088 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1464G>A (p.Thr488=) single nucleotide variant Congenital prothrombin deficiency [RCV000969793]|Thrombophilia due to thrombin defect [RCV000312366] Chr11:46728829 [GRCh38]
Chr11:46750379 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000506.5(F2):c.1567C>T (p.Leu523=) single nucleotide variant Congenital prothrombin deficiency [RCV000268407]|Thrombophilia due to thrombin defect [RCV000302535] Chr11:46729474 [GRCh38]
Chr11:46751024 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.45G>A (p.Leu15=) single nucleotide variant Congenital prothrombin deficiency [RCV000375815]|Thrombophilia due to thrombin defect [RCV000330603] Chr11:46719280 [GRCh38]
Chr11:46740830 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1472+9C>T single nucleotide variant Congenital prothrombin deficiency [RCV000336780]|Thrombophilia due to thrombin defect [RCV000400782] Chr11:46728846 [GRCh38]
Chr11:46750396 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.730G>T (p.Ala244Ser) single nucleotide variant Congenital prothrombin deficiency [RCV000367220]|Thrombophilia due to thrombin defect [RCV000312546] Chr11:46726029 [GRCh38]
Chr11:46747579 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1621C>A (p.Arg541=) single nucleotide variant Congenital prothrombin deficiency [RCV000329049]|Thrombophilia due to thrombin defect [RCV000381274]|not provided [RCV000901429] Chr11:46729528 [GRCh38]
Chr11:46751078 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3 copy number gain not provided [RCV000683320] Chr11:46502259..46745473 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_000506.5(F2):c.1030AAG[1] (p.Lys345del) microsatellite Prolonged prothrombin time [RCV000851966] Chr11:46726735..46726737 [GRCh38]
Chr11:46748285..46748287 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_000506.5(F2):c.1299-150C>G single nucleotide variant not provided [RCV001540131] Chr11:46728514 [GRCh38]
Chr11:46750064 [GRCh37]
Chr11:11p11.2
benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000506.5(F2):c.1131-212T>A single nucleotide variant not provided [RCV001666609] Chr11:46727784 [GRCh38]
Chr11:46749334 [GRCh37]
Chr11:11p11.2
benign
NM_000506.5(F2):c.1131-312G>A single nucleotide variant not provided [RCV001643752] Chr11:46727684 [GRCh38]
Chr11:46749234 [GRCh37]
Chr11:11p11.2
benign
NM_000506.5(F2):c.1814_1815del (p.His605fs) deletion F2-Related Disorders [RCV000778326]|Prolonged prothrombin time [RCV000852057] Chr11:46739353..46739354 [GRCh38]
Chr11:46760903..46760904 [GRCh37]
Chr11:11p11.2
likely pathogenic|uncertain significance
NM_000506.5(F2):c.180C>T (p.Cys60=) single nucleotide variant Congenital prothrombin deficiency [RCV000926376] Chr11:46719802 [GRCh38]
Chr11:46741352 [GRCh37]
Chr11:11p11.2
likely benign
NM_000506.5(F2):c.1857G>A (p.Gln619=) single nucleotide variant Congenital prothrombin deficiency [RCV000959974] Chr11:46739396 [GRCh38]
Chr11:46760946 [GRCh37]
Chr11:11p11.2
benign
NM_000506.5(F2):c.432C>A (p.Ser144=) single nucleotide variant not provided [RCV000923926] Chr11:46723391 [GRCh38]
Chr11:46744941 [GRCh37]
Chr11:11p11.2
likely benign
NM_000506.5(F2):c.1393C>T (p.Leu465=) single nucleotide variant