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

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Gene: F2 (coagulation factor II, thrombin) Homo sapiens
Symbol: F2
Name: coagulation factor II, thrombin
RGD ID: 1353256
Description: Exhibits several functions, including heparin binding activity; lipopolysaccharide binding activity; and serine-type endopeptidase activity. Involved in several processes, including killing by host of symbiont cells; positive regulation of cellular metabolic process; and regulation of blood coagulation. Localizes to extracellular space. 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 COVID-19; autoimmune disease (multiple); glucose metabolism disease (multiple); liver disease (multiple); and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
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.
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1146,719,180 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,719,196 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh381146,719,213 - 46,739,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,740,763 - 46,761,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,697,331 - 46,717,631 (+)NCBINCBI36hg18NCBI36
Build 341146,697,330 - 46,717,631NCBI
Celera1146,888,702 - 46,909,014 (+)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1146,446,660 - 46,466,973 (+)NCBIHuRef
CHM1_11146,739,122 - 46,759,464 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

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)
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)
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)
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)
arsenite(3-)  (EXP)
aspalathin  (EXP)
aspartame  (EXP)
atorvastatin calcium  (EXP)
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)
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)
flutamide  (ISO)
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)
methotrexate  (EXP)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
nickel atom  (EXP)
nicotine  (EXP)
nimesulide  (EXP,ISO)
nitric oxide  (EXP)
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)
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)
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, intrinsic pathway  (TAS)
cell surface receptor signaling pathway  (IDA)
cellular protein metabolic process  (TAS)
cellular response to mechanical stimulus  (ISO)
cytolysis by host of symbiont cells  (IDA)
endoplasmic reticulum to Golgi vesicle-mediated transport  (TAS)
fibrinolysis  (IDA)
G protein-coupled receptor signaling pathway  (TAS)
leukocyte migration  (TAS)
multicellular organism development  (TAS)
negative regulation of astrocyte differentiation  (IDA)
negative regulation of catalytic activity  (IEA)
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,ISO,TAS)
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 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  (IEA)
regulation of blood coagulation  (TAS)
regulation of cell shape  (IEA,ISO)
regulation of complement activation  (TAS)
regulation of cytosolic calcium ion concentration  (IDA)
regulation of gene expression  (ISO)
response to inactivity  (ISO)
response to Thyroglobulin triiodothyronine  (ISO)
response to thyrotropin-releasing hormone  (ISO)
response to thyroxine  (ISO)
response to wounding  (IDA)

Cellular Component


References - curated
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PMID:19167867   PMID:19190829   PMID:19195685   PMID:19197197   PMID:19210273   PMID:19211287   PMID:19211580   PMID:19219640   PMID:19230252   PMID:19232683   PMID:19238444   PMID:19245802  
PMID:19253755   PMID:19265041   PMID:19307088   PMID:19318721   PMID:19330709   PMID:19336355   PMID:19336370   PMID:19336437   PMID:19336475   PMID:19349859   PMID:19350119   PMID:19350129  
PMID:19350131   PMID:19351827   PMID:19353312   PMID:19356951   PMID:19362088   PMID:19372095   PMID:19374152   PMID:19383345   PMID:19395327   PMID:19404532   PMID:19404534   PMID:19408824  
PMID:19415820   PMID:19416890   PMID:19422815   PMID:19432826   PMID:19439413   PMID:19448164   PMID:19454280   PMID:19472214   PMID:19474452   PMID:19474699   PMID:19483084   PMID:19504051  
PMID:19520681   PMID:19520684   PMID:19522744   PMID:19524925   PMID:19526440   PMID:19527514   PMID:19530321   PMID:19530705   PMID:19538716   PMID:19559392   PMID:19560187   PMID:19560472  
PMID:19581306   PMID:19589779   PMID:19591822   PMID:19592474   PMID:19595110   PMID:19609209   PMID:19618008   PMID:19620700   PMID:19630796   PMID:19636003   PMID:19638274   PMID:19652200  
PMID:19656282   PMID:19660184   PMID:19668753   PMID:19682239   PMID:19691831   PMID:19703820   PMID:19705255   PMID:19710606   PMID:19720979   PMID:19729601   PMID:19730248   PMID:19751194  
PMID:19776610   PMID:19778528   PMID:19783216   PMID:19796528   PMID:19816721   PMID:19826759   PMID:19838435   PMID:19846563   PMID:19853891   PMID:19858193   PMID:19860767   PMID:19880506  
PMID:19886238   PMID:19906129   PMID:19909951   PMID:19913121   PMID:19920886   PMID:19922437   PMID:19923980   PMID:19934566   PMID:19937485   PMID:19939360   PMID:19948975   PMID:19956635  
PMID:19956845   PMID:19958090   PMID:19959486   PMID:19967163   PMID:20002542   PMID:20002544   PMID:20017223   PMID:20019774   PMID:20027027   PMID:20027028   PMID:20032510   PMID:20036902  
PMID:20039103   PMID:20045672   PMID:20048104   PMID:20051285   PMID:20053992   PMID:20061396   PMID:20062917   PMID:20062924   PMID:20064497   PMID:20078877   PMID:20088940   PMID:20096005  
PMID:20102484   PMID:20107738   PMID:20128871   PMID:20144172   PMID:20148880   PMID:20150433   PMID:20155436   PMID:20161734   PMID:20162297   PMID:20164183   PMID:20167556   PMID:20172331  
PMID:20174725   PMID:20174756   PMID:20174767   PMID:20186013   PMID:20301327   PMID:20337781   PMID:20351233   PMID:20352152   PMID:20368337   PMID:20368522   PMID:20379305   PMID:20390230  
PMID:20396790   PMID:20400894   PMID:20404340   PMID:20406709   PMID:20421939   PMID:20425806   PMID:20428919   PMID:20431849   PMID:20446941   PMID:20451499   PMID:20452482   PMID:20452800  
PMID:20479641   PMID:20482605   PMID:20484050   PMID:20484876   PMID:20492466   PMID:20505748   PMID:20528875   PMID:20532885   PMID:20542544   PMID:20546854   PMID:20552683   PMID:20553951  
PMID:20563311   PMID:20571025   PMID:20589316   PMID:20589321   PMID:20589323   PMID:20593110   PMID:20601540   PMID:20602615   PMID:20603034   PMID:20608153   PMID:20616539   PMID:20619835  
PMID:20626623   PMID:20627204   PMID:20628086   PMID:20639195   PMID:20656333   PMID:20673868   PMID:20686565   PMID:20687780   PMID:20694011   PMID:20707730   PMID:20708329   PMID:20709367  
PMID:20717043   PMID:20723024   PMID:20724652   PMID:20734064   PMID:20735725   PMID:20798492   PMID:20811787   PMID:20819545   PMID:20847307   PMID:20881312   PMID:20889971   PMID:20890897  
PMID:20930172   PMID:20937743   PMID:20939248   PMID:20946152   PMID:20974933   PMID:21034455   PMID:21042205   PMID:21054877   PMID:21057695   PMID:21059757   PMID:21062415   PMID:21072525  
PMID:21073356   PMID:21078611   PMID:21080035   PMID:21080081   PMID:21080082   PMID:21103660   PMID:21166500   PMID:21170721   PMID:21206024   PMID:21209875   PMID:21259017   PMID:21266580  
PMID:21269570   PMID:21292162   PMID:21306436   PMID:21316746   PMID:21349701   PMID:21424155   PMID:21430357   PMID:21461667   PMID:21498704   PMID:21515439   PMID:21527525   PMID:21531712  
PMID:21555742   PMID:21555871   PMID:21624643   PMID:21659542   PMID:21701789   PMID:21725623   PMID:21747067   PMID:21757718   PMID:21773779   PMID:21782041   PMID:21787749   PMID:21793906  
PMID:21798378   PMID:21809138   PMID:21853935   PMID:21861708   PMID:21868400   PMID:21873635   PMID:21919702   PMID:21935446   PMID:21947267   PMID:21985636   PMID:21988832   PMID:22009534  
PMID:22023246   PMID:22035573   PMID:22049947   PMID:22051170   PMID:22053189   PMID:22084413   PMID:22174551   PMID:22198364   PMID:22210734   PMID:22235124   PMID:22239182   PMID:22274722  
PMID:22329698   PMID:22349599   PMID:22362471   PMID:22381244   PMID:22384068   PMID:22385910   PMID:22422337   PMID:22463118   PMID:22483732   PMID:22492089   PMID:22512572   PMID:22516070  
PMID:22516433   PMID:22528331   PMID:22535498   PMID:22535660   PMID:22542363   PMID:22554292   PMID:22562116   PMID:22627863   PMID:22628232   PMID:22716977   PMID:22721898   PMID:22744422  
PMID:22802338   PMID:22815477   PMID:22819145   PMID:22885990   PMID:22905983   PMID:22909823   PMID:22931734   PMID:22984498   PMID:22989889   PMID:22990475   PMID:23011539   PMID:23012355  
PMID:23029076   PMID:23054468   PMID:23058370   PMID:23089051   PMID:23108098   PMID:23128846   PMID:23140098   PMID:23152198   PMID:23161548   PMID:23200057   PMID:23204166   PMID:23204518  
PMID:23207285   PMID:23216233   PMID:23219312   PMID:23238545   PMID:23254928   PMID:23256818   PMID:23282286   PMID:23306310   PMID:23312776   PMID:23337711   PMID:23342883   PMID:23347295  
PMID:23376485   PMID:23385359   PMID:23406164   PMID:23415973   PMID:23467412   PMID:23476015   PMID:23533145   PMID:23578283   PMID:23612970   PMID:23615845   PMID:23723374   PMID:23729486  
PMID:23750785   PMID:23754290   PMID:23795816   PMID:23812842   PMID:23826181   PMID:23828072   PMID:23844096   PMID:23844473   PMID:23852823   PMID:23895043   PMID:23897567   PMID:23913469  
PMID:23919450   PMID:23927452   PMID:23940050   PMID:23955016   PMID:23983171   PMID:23988350   PMID:24008520   PMID:24025335   PMID:24039253   PMID:24060191   PMID:24083963   PMID:24097068  
PMID:24097976   PMID:24132798   PMID:24159810   PMID:24162564   PMID:24164805   PMID:24171544   PMID:24201825   PMID:24226152   PMID:24242684   PMID:24273903   PMID:24282370   PMID:24315500  
PMID:24316004   PMID:24435325   PMID:24455683   PMID:24484533   PMID:24497039   PMID:24523227   PMID:24569626   PMID:24612393   PMID:24619398   PMID:24627725   PMID:24652285   PMID:24665136  
PMID:24755609   PMID:24793031   PMID:24816676   PMID:24821807   PMID:24967675   PMID:25056173   PMID:25065556   PMID:25068444   PMID:25085378   PMID:25112870   PMID:25149909   PMID:25158985  
PMID:25241761   PMID:25242243   PMID:25274249   PMID:25341889   PMID:25348176   PMID:25421744   PMID:25466842   PMID:25528068   PMID:25563678   PMID:25592075   PMID:25647100   PMID:25651720  
PMID:25664608   PMID:25711313   PMID:25745807   PMID:25809477   PMID:25834144   PMID:25839182   PMID:25852278   PMID:25897999   PMID:25944555   PMID:25945007   PMID:25967238   PMID:25977387  
PMID:25992517   PMID:26060483   PMID:26092622   PMID:26115054   PMID:26135458   PMID:26143256   PMID:26216877   PMID:26238013   PMID:26261166   PMID:26305570   PMID:26315791   PMID:26317125  
PMID:26365066   PMID:26386308   PMID:26403495   PMID:26440368   PMID:26468766   PMID:26475502   PMID:26503910   PMID:26504080   PMID:26522268   PMID:26560857   PMID:26585954   PMID:26601957  
PMID:26608329   PMID:26748875   PMID:26761005   PMID:26763231   PMID:26768578   PMID:26771969   PMID:26840958   PMID:26957205   PMID:26986465   PMID:27013614   PMID:27013660   PMID:27018927  
PMID:27031503   PMID:27058219   PMID:27070780   PMID:27108773   PMID:27179129   PMID:27181065   PMID:27207416   PMID:27305147   PMID:27306359   PMID:27323874   PMID:27359051   PMID:27377285  
PMID:27383881   PMID:27419389   PMID:27421960   PMID:27435675   PMID:27442243   PMID:27525841   PMID:27561318   PMID:27604259   PMID:27605669   PMID:27619728   PMID:27624125   PMID:27636933  
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:31520401   PMID:31736051   PMID:31862363  
PMID:31875702   PMID:31892516   PMID:31974511   PMID:32040579   PMID:32083344   PMID:32131129   PMID:32156702   PMID:32665403   PMID:32736707   PMID:32769241   PMID:32780723   PMID:32814053  
PMID:33036569   PMID:33086557   PMID:33276061   PMID:33672736  


Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1146,719,180 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,719,196 - 46,739,506 (+)EnsemblGRCh38hg38GRCh38
GRCh381146,719,213 - 46,739,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,740,763 - 46,761,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,697,331 - 46,717,631 (+)NCBINCBI36hg18NCBI36
Build 341146,697,330 - 46,717,631NCBI
Celera1146,888,702 - 46,909,014 (+)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1146,446,660 - 46,466,973 (+)NCBIHuRef
CHM1_11146,739,122 - 46,759,464 (+)NCBICHM1_1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39291,442,742 - 91,466,802 (-)NCBIGRCm39mm39
GRCm39 Ensembl291,455,665 - 91,466,759 (-)Ensembl
GRCm38291,612,397 - 91,636,457 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,625,320 - 91,636,414 (-)EnsemblGRCm38mm10GRCm38
MGSCv37291,465,477 - 91,476,571 (-)NCBIGRCm37mm9NCBIm37
MGSCv36291,426,159 - 91,437,253 (-)NCBImm8
Celera293,014,831 - 93,025,920 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.2377,596,196 - 77,609,486 (-)NCBI
Rnor_6.0 Ensembl380,529,428 - 80,543,031 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0380,529,468 - 80,542,993 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0387,228,703 - 87,242,228 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,005,318 - 76,018,603 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1375,901,694 - 75,914,982 (-)NCBI
Celera376,801,000 - 76,814,280 (-)NCBICelera
Cytogenetic Map3q24NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049554221,356,769 - 1,367,517 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,356,675 - 1,367,788 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
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_v0panPan3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
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 (-)NCBI
ROS_Cfam_1.01843,438,760 - 43,455,850 (-)NCBI
UMICH_Zoey_3.11842,924,063 - 42,940,888 (-)NCBI
UNSW_CanFamBas_1.01842,479,219 - 42,496,510 (-)NCBI
UU_Cfam_GSD_1.01843,208,980 - 43,225,802 (-)NCBI
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440494720,260,330 - 20,277,033 (-)NCBI
SpeTri2.0NW_0049365622,371,725 - 2,388,617 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl215,791,451 - 15,819,138 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,793,257 - 15,819,151 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,145,002 - 17,170,975 (-)NCBISscrofa10.2Sscrofa10.2susScr3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla 1.0NW_0046247671,876,974 - 1,887,720 (-)NCBI

Position Markers
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
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
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
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11UniSTS
GeneMap99-GB4 RH Map11166.62UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,747,929 - 46,748,004UniSTSGRCh37
Celera1146,895,889 - 46,895,964UniSTS
Cytogenetic Map11p11UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,747,929 - 46,748,003UniSTSGRCh37
Celera1146,895,889 - 46,895,963UniSTS
Cytogenetic Map11p11UniSTS
HuRef1146,453,847 - 46,453,921UniSTS

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.


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


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
  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:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,213 - 46,739,506 (+)Ensembl
RefSeq Acc Id: ENST00000442468   ⟹   ENSP00000387413
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,309 - 46,726,626 (+)Ensembl
RefSeq Acc Id: ENST00000469189
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,196 - 46,720,192 (+)Ensembl
RefSeq Acc Id: ENST00000490274
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,723,180 - 46,726,064 (+)Ensembl
RefSeq Acc Id: ENST00000530231   ⟹   ENSP00000433907
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,719,231 - 46,739,500 (+)Ensembl
RefSeq Acc Id: NM_000506   ⟹   NP_000497
RefSeq Status: REVIEWED
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
Reference Sequences
RefSeq Acc Id: NP_000497   ⟸   NM_000506
- Peptide Label: preproprotein
- UniProtKB: 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

RGD ID:7220203
Promoter ID:EPDNEW_H15847
Type:initiation region
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.
Human AssemblyChrPosition (strand)Source
GRCh381146,719,213 - 46,719,273EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000506.4(F2):c.1787G>T (p.Arg596Leu) single nucleotide variant Thrombophilia due to thrombin defect [RCV000024607] Chr11:46739326 [GRCh38]
Chr11:46760876 [GRCh37]
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
F2, TYR44CYS single nucleotide variant Prothrombin deficiency, congenital [RCV000022730] Chr11:11p11-q12 pathogenic
NM_000506.3(F2):c.598G>A (p.Glu200Lys) single nucleotide variant PROTHROMBIN TYPE 3 [RCV000014229]|Prothrombin deficiency, congenital [RCV001108917]|Thrombophilia due to thrombin defect [RCV001108918]|not provided [RCV000994617] Chr11:46725897 [GRCh38]
Chr11:46747447 [GRCh37]
pathogenic|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]
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) single nucleotide variant Hereditary factor II deficiency disease [RCV000014231] Chr11:46728746 [GRCh38]
Chr11:46750296 [GRCh37]
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014232] Chr11:46728138 [GRCh38]
Chr11:46749688 [GRCh37]
NM_000506.3(F2):c.1802G>T (p.Gly601Val) single nucleotide variant Hereditary factor II deficiency disease [RCV000014233] Chr11:46739341 [GRCh38]
Chr11:46760891 [GRCh37]
NM_000506.3(F2):c.1139T>C (p.Met380Thr) single nucleotide variant Hereditary factor II deficiency disease [RCV000014234] Chr11:46728004 [GRCh38]
Chr11:46749554 [GRCh37]
NM_000506.3(F2):c.1292G>A (p.Arg431His) single nucleotide variant DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II [RCV000014235] Chr11:46728157 [GRCh38]
Chr11:46749707 [GRCh37]
NM_000506.4(F2):c.462_463insT (p.Asn155Ter) insertion Prothrombin deficiency, congenital [RCV000014236] Chr11:46723421..46723422 [GRCh38]
Chr11:46744971..46744972 [GRCh37]
NM_000506.5(F2):c.*97G>A single nucleotide variant Hereditary factor II deficiency disease [RCV000991171]|Ischemic stroke, susceptibility to [RCV000014238]|Pregnancy loss, recurrent, susceptibility to, 2 [RCV000022729]|Prothrombin deficiency, congenital [RCV000205022]|Thrombophilia due to thrombin defect [RCV000014237]|Venous thromboembolism [RCV000826090]|not provided [RCV001091960] Chr11:46739505 [GRCh38]
Chr11:46761055 [GRCh37]
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]
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) single nucleotide variant Hereditary factor II deficiency disease [RCV000014240] Chr11:46726761 [GRCh38]
Chr11:46748311 [GRCh37]
NM_000506.4(F2):c.1274G>A (p.Arg425His) single nucleotide variant Hereditary factor II deficiency disease [RCV000014241] Chr11:46728139 [GRCh38]
Chr11:46749689 [GRCh37]
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) single nucleotide variant Hereditary factor II deficiency disease [RCV000014242] Chr11:46739324 [GRCh38]
Chr11:46760874 [GRCh37]
NM_000506.4(F2):c.355_356insCA (p.His119fs) insertion F2-Related Disorders [RCV000778325] Chr11:46723218..46723219 [GRCh38]
Chr11:46744768..46744769 [GRCh37]
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]
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]
NM_000506.4(F2):c.734del (p.Leu245fs) deletion Malignant tumor of prostate [RCV000149003] Chr11:46726033 [GRCh38]
Chr11:46747583 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1726-59G>A single nucleotide variant Thrombophilia due to thrombin defect [RCV000133511] Chr11:46739206 [GRCh38]
Chr11:46760756 [GRCh37]
uncertain significance
NM_000506.4(F2):c.*96C>T single nucleotide variant Thrombophilia due to thrombin defect [RCV000133510] Chr11:46739504 [GRCh38]
Chr11:46761054 [GRCh37]
uncertain significance
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]
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]
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]
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]
uncertain significance
NM_000506.4(F2):c.494C>T (p.Thr165Met) single nucleotide variant Prothrombin deficiency, congenital [RCV000306522]|Thrombophilia due to thrombin defect [RCV000396446]|not specified [RCV000243525] Chr11:46723453 [GRCh38]
Chr11:46745003 [GRCh37]
benign|likely benign
NM_000506.4(F2):c.1824C>T (p.Arg608=) single nucleotide variant Prothrombin deficiency, congenital [RCV001103849]|Thrombophilia due to thrombin defect [RCV001103850]|not provided [RCV000952961]|not specified [RCV000243833] Chr11:46739363 [GRCh38]
Chr11:46760913 [GRCh37]
benign|likely benign|uncertain significance
NM_000506.4(F2):c.480C>T (p.Pro160=) single nucleotide variant Prothrombin deficiency, congenital [RCV000346101]|Thrombophilia due to thrombin defect [RCV000291132]|not specified [RCV000251721] Chr11:46723439 [GRCh38]
Chr11:46744989 [GRCh37]
benign|likely benign
NM_000506.4(F2):c.423-7G>C single nucleotide variant Prothrombin deficiency, congenital [RCV000396449]|Thrombophilia due to thrombin defect [RCV000340341]|not specified [RCV000246968] Chr11:46723375 [GRCh38]
Chr11:46744925 [GRCh37]
benign|likely benign
NM_000506.4(F2):c.1602G>A (p.Pro534=) single nucleotide variant Prothrombin deficiency, congenital [RCV000271684]|Thrombophilia due to thrombin defect [RCV000359671]|not specified [RCV000252009] Chr11:46729509 [GRCh38]
Chr11:46751059 [GRCh37]
benign|uncertain significance
NM_000506.4(F2):c.1233G>A (p.Pro411=) single nucleotide variant Prothrombin deficiency, congenital [RCV000351751]|Thrombophilia due to thrombin defect [RCV000294539]|not specified [RCV000247247] Chr11:46728098 [GRCh38]
Chr11:46749648 [GRCh37]
benign|likely benign|uncertain significance
NM_000506.4(F2):c.*98+194G>A single nucleotide variant not specified [RCV000242460] Chr11:46739700 [GRCh38]
Chr11:46761250 [GRCh37]
likely benign
NM_000506.4(F2):c.317-4G>A single nucleotide variant Prothrombin deficiency, congenital [RCV000915429]|Thrombophilia due to thrombin defect [RCV000379735] Chr11:46723176 [GRCh38]
Chr11:46744726 [GRCh37]
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000506.4(F2):c.882C>T (p.Ala294=) single nucleotide variant Prothrombin deficiency, congenital [RCV000380002]|Thrombophilia due to thrombin defect [RCV000323014] Chr11:46726505 [GRCh38]
Chr11:46748055 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1628G>T (p.Arg543Leu) single nucleotide variant Prothrombin deficiency, congenital [RCV000884570]|Thrombophilia due to thrombin defect [RCV000333070] Chr11:46729535 [GRCh38]
Chr11:46751085 [GRCh37]
benign|uncertain significance
NM_000506.4(F2):c.978G>A (p.Pro326=) single nucleotide variant Prothrombin deficiency, congenital [RCV000291373]|Thrombophilia due to thrombin defect [RCV000383386] Chr11:46726601 [GRCh38]
Chr11:46748151 [GRCh37]
uncertain significance
NM_000506.4(F2):c.813C>T (p.Gly271=) single nucleotide variant Prothrombin deficiency, congenital [RCV000883131]|Thrombophilia due to thrombin defect [RCV000353454] Chr11:46726112 [GRCh38]
Chr11:46747662 [GRCh37]
benign|uncertain significance
NM_000506.4(F2):c.1815T>C (p.His605=) single nucleotide variant Prothrombin deficiency, congenital [RCV000389842]|Thrombophilia due to thrombin defect [RCV000293256] Chr11:46739354 [GRCh38]
Chr11:46760904 [GRCh37]
uncertain significance
NM_000506.4(F2):c.79+7G>A single nucleotide variant Prothrombin deficiency, congenital [RCV000956935]|Thrombophilia due to thrombin defect [RCV000279364] Chr11:46719321 [GRCh38]
Chr11:46740871 [GRCh37]
benign|likely benign|uncertain significance
NM_000506.4(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]
uncertain significance
NM_000506.4(F2):c.1541A>G (p.Asn514Ser) single nucleotide variant Prothrombin deficiency, congenital [RCV000360697]|Thrombophilia due to thrombin defect [RCV000298925]|not provided [RCV000994624] Chr11:46729448 [GRCh38]
Chr11:46750998 [GRCh37]
uncertain significance
NM_000506.4(F2):c.992C>T (p.Ser331Leu) single nucleotide variant Prothrombin deficiency, congenital [RCV000382049]|Thrombophilia due to thrombin defect [RCV000343719] Chr11:46726615 [GRCh38]
Chr11:46748165 [GRCh37]
uncertain significance
NM_000506.4(F2):c.559+5G>A single nucleotide variant Prothrombin deficiency, congenital [RCV000390428]|Thrombophilia due to thrombin defect [RCV000370626] Chr11:46723523 [GRCh38]
Chr11:46745073 [GRCh37]
uncertain significance
NM_000506.4(F2):c.*44G>T single nucleotide variant Prothrombin deficiency, congenital [RCV000350332]|Thrombophilia due to thrombin defect [RCV000374586] Chr11:46739452 [GRCh38]
Chr11:46761002 [GRCh37]
uncertain significance
NM_000506.4(F2):c.915G>A (p.Glu305=) single nucleotide variant Prothrombin deficiency, congenital [RCV000321688]|Thrombophilia due to thrombin defect [RCV000264279] Chr11:46726538 [GRCh38]
Chr11:46748088 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1464G>A (p.Thr488=) single nucleotide variant Prothrombin deficiency, congenital [RCV000969793]|Thrombophilia due to thrombin defect [RCV000312366] Chr11:46728829 [GRCh38]
Chr11:46750379 [GRCh37]
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000506.4(F2):c.1567C>T (p.Leu523=) single nucleotide variant Prothrombin deficiency, congenital [RCV000268407]|Thrombophilia due to thrombin defect [RCV000302535] Chr11:46729474 [GRCh38]
Chr11:46751024 [GRCh37]
uncertain significance
NM_000506.4(F2):c.45G>A (p.Leu15=) single nucleotide variant Prothrombin deficiency, congenital [RCV000375815]|Thrombophilia due to thrombin defect [RCV000330603] Chr11:46719280 [GRCh38]
Chr11:46740830 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1472+9C>T single nucleotide variant Prothrombin deficiency, congenital [RCV000336780]|Thrombophilia due to thrombin defect [RCV000400782] Chr11:46728846 [GRCh38]
Chr11:46750396 [GRCh37]
uncertain significance
NM_000506.4(F2):c.730G>T (p.Ala244Ser) single nucleotide variant Prothrombin deficiency, congenital [RCV000367220]|Thrombophilia due to thrombin defect [RCV000312546] Chr11:46726029 [GRCh38]
Chr11:46747579 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1621C>A (p.Arg541=) single nucleotide variant Prothrombin deficiency, congenital [RCV000329049]|Thrombophilia due to thrombin defect [RCV000381274]|not provided [RCV000901429] Chr11:46729528 [GRCh38]
Chr11:46751078 [GRCh37]
likely benign|uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3 copy number gain not provided [RCV000683320] Chr11:46502259..46745473 [GRCh37]
uncertain significance
NM_000506.4(F2):c.1030_1032AAG[1] (p.Lys345del) microsatellite Prolonged prothrombin time [RCV000851966] Chr11:46726735..46726737 [GRCh38]
Chr11:46748285..46748287 [GRCh37]
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
NM_000506.4(F2):c.1814_1815del (p.His605fs) deletion F2-Related Disorders [RCV000778326]|Prolonged prothrombin time [RCV000852057] Chr11:46739353..46739354 [GRCh38]
Chr11:46760903..46760904 [GRCh37]
likely pathogenic|uncertain significance
NM_000506.5(F2):c.180C>T (p.Cys60=) single nucleotide variant Prothrombin deficiency, congenital [RCV000926376] Chr11:46719802 [GRCh38]
Chr11:46741352 [GRCh37]
likely benign
NM_000506.5(F2):c.1857G>A (p.Gln619=) single nucleotide variant Prothrombin deficiency, congenital [RCV000959974] Chr11:46739396 [GRCh38]
Chr11:46760946 [GRCh37]
NM_000506.5(F2):c.432C>A (p.Ser144=) single nucleotide variant not provided [RCV000923926] Chr11:46723391 [GRCh38]
Chr11:46744941 [GRCh37]
likely benign
NM_000506.5(F2):c.1393C>T (p.Leu465=) single nucleotide variant not provided [RCV000978482] Chr11:46728758 [GRCh38]
Chr11:46750308 [GRCh37]
likely benign
NM_000506.5(F2):c.843C>T (p.Gly281=) single nucleotide variant Prothrombin deficiency, congenital [RCV001078548]|Thrombophilia due to thrombin defect [RCV001103761]|not provided [RCV000880035] Chr11:46726142 [GRCh38]
Chr11:46747692 [GRCh37]
benign|likely benign|uncertain significance
NM_000506.5(F2):c.875-8C>T single nucleotide variant not provided [RCV000994619] Chr11:46726490 [GRCh38]
Chr11:46748040 [GRCh37]
uncertain significance
NM_000506.5(F2):c.989G>C (p.Gly330Ala) single nucleotide variant not provided [RCV000994620] Chr11:46726612 [GRCh38]
Chr11:46748162 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1234C>G (p.Pro412Ala) single nucleotide variant not provided [RCV000994622] Chr11:46728099 [GRCh38]
Chr11:46749649 [GRCh37]
uncertain significance
NM_000506.5(F2):c.241-26C>G single nucleotide variant not provided [RCV000994615] Chr11:46720497 [GRCh38]
Chr11:46742047 [GRCh37]
uncertain significance
NM_000506.5(F2):c.342G>A (p.Thr114=) single nucleotide variant not provided [RCV000994616] Chr11:46723205 [GRCh38]
Chr11:46744755 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1791T>C (p.Asp597=) single nucleotide variant not provided [RCV000918009] Chr11:46739330 [GRCh38]
Chr11:46760880 [GRCh37]
likely benign
NM_000506.5(F2):c.201C>T (p.Tyr67=) single nucleotide variant not provided [RCV000994614] Chr11:46719823 [GRCh38]
Chr11:46741373 [GRCh37]
likely benign
NM_000506.5(F2):c.706G>A (p.Ala236Thr) single nucleotide variant not provided [RCV000994618] Chr11:46726005 [GRCh38]
Chr11:46747555 [GRCh37]
uncertain significance
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
uncertain significance
NM_000506.4(F2):c.260A>G (p.Tyr87Cys) single nucleotide variant Coagulation factor deficiency syndrome [RCV000852095] Chr11:46720542 [GRCh38]
Chr11:46742092 [GRCh37]
likely pathogenic
NM_000506.4(F2):c.1826T>C (p.Leu609Pro) single nucleotide variant Prolonged prothrombin time [RCV000851931] Chr11:46739365 [GRCh38]
Chr11:46760915 [GRCh37]
likely pathogenic
NM_000506.4(F2):c.941G>A (p.Arg314His) single nucleotide variant Prolonged prothrombin time [RCV000852251] Chr11:46726564 [GRCh38]
Chr11:46748114 [GRCh37]
likely pathogenic
NM_000506.5(F2):c.*9T>G single nucleotide variant Prothrombin deficiency, congenital [RCV001103851]|Thrombophilia due to thrombin defect [RCV001103852] Chr11:46739417 [GRCh38]
Chr11:46760967 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1037C>T (p.Ser346Leu) single nucleotide variant Prothrombin deficiency, congenital [RCV001105705]|Thrombophilia due to thrombin defect [RCV001105704] Chr11:46726744 [GRCh38]
Chr11:46748294 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) single nucleotide variant Thrombophilia due to thrombin defect [RCV000853373] Chr11:46739326 [GRCh38]
Chr11:46760876 [GRCh37]
NM_000506.5(F2):c.1212C>T (p.Ala404=) single nucleotide variant not provided [RCV000976035] Chr11:46728077 [GRCh38]
Chr11:46749627 [GRCh37]
likely benign
NM_000506.5(F2):c.191C>T (p.Thr64Met) single nucleotide variant Prothrombin deficiency, congenital [RCV001105606]|Thrombophilia due to thrombin defect [RCV001105607] Chr11:46719813 [GRCh38]
Chr11:46741363 [GRCh37]
uncertain significance
NM_000506.5(F2):c.285G>A (p.Thr95=) single nucleotide variant Prothrombin deficiency, congenital [RCV001105611]|Thrombophilia due to thrombin defect [RCV001105610] Chr11:46720809 [GRCh38]
Chr11:46742359 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1299-10G>A single nucleotide variant not provided [RCV000913727] Chr11:46728654 [GRCh38]
Chr11:46750204 [GRCh37]
likely benign
NM_000506.5(F2):c.495G>A (p.Thr165=) single nucleotide variant Prothrombin deficiency, congenital [RCV001106756]|Thrombophilia due to thrombin defect [RCV001106755]|not provided [RCV000934327] Chr11:46723454 [GRCh38]
Chr11:46745004 [GRCh37]
likely benign|uncertain significance
NM_000506.5(F2):c.51C>A (p.Ala17=) single nucleotide variant not provided [RCV000994612] Chr11:46719286 [GRCh38]
Chr11:46740836 [GRCh37]
uncertain significance
NM_000506.5(F2):c.98A>C (p.Gln33Pro) single nucleotide variant not provided [RCV000994613] Chr11:46719720 [GRCh38]
Chr11:46741270 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1083C>T (p.Asp361=) single nucleotide variant not provided [RCV000994621] Chr11:46726790 [GRCh38]
Chr11:46748340 [GRCh37]
likely benign
NM_000506.5(F2):c.1411C>T (p.Pro471Ser) single nucleotide variant not provided [RCV000994623] Chr11:46728776 [GRCh38]
Chr11:46750326 [GRCh37]
uncertain significance
NM_000506.5(F2):c.874+13G>A single nucleotide variant Prothrombin deficiency, congenital [RCV001103762]|Thrombophilia due to thrombin defect [RCV001103763] Chr11:46726186 [GRCh38]
Chr11:46747736 [GRCh37]
uncertain significance
NM_000506.5(F2):c.814G>A (p.Val272Met) single nucleotide variant Prothrombin deficiency, congenital [RCV001103759]|Thrombophilia due to thrombin defect [RCV001103760] Chr11:46726113 [GRCh38]
Chr11:46747663 [GRCh37]
uncertain significance
NM_000506.5(F2):c.234G>A (p.Thr78=) single nucleotide variant Prothrombin deficiency, congenital [RCV001105608]|Thrombophilia due to thrombin defect [RCV001105609] Chr11:46719856 [GRCh38]
Chr11:46741406 [GRCh37]
uncertain significance
NC_000011.10:g.46739508C>A single nucleotide variant Prothrombin deficiency, congenital [RCV001105795]|Thrombophilia due to thrombin defect [RCV001105796] Chr11:46739508 [GRCh38]
Chr11:46761058 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1298+11G>C single nucleotide variant Prothrombin deficiency, congenital [RCV001106823]|Thrombophilia due to thrombin defect [RCV001106822] Chr11:46728174 [GRCh38]
Chr11:46749724 [GRCh37]
likely benign|uncertain significance
NC_000011.10:g.(?_46366257)_(46744577_?)dup duplication not provided [RCV001032651] Chr11:46387807..46766127 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) single nucleotide variant Inborn genetic diseases [RCV001267437] Chr11:46729528 [GRCh38]
Chr11:46751078 [GRCh37]
uncertain significance
NM_000506.5(F2):c.261C>T (p.Tyr87=) single nucleotide variant not provided [RCV001311759] Chr11:46720543 [GRCh38]
Chr11:46742093 [GRCh37]
likely benign
GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3 copy number gain not provided [RCV001259094] Chr11:46418839..46753136 [GRCh37]
uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
uncertain significance
NC_000011.9:g.(?_46569796)_(46742390_?)dup duplication not provided [RCV001346673] Chr11:46569796..46742390 [GRCh37]
uncertain significance
NM_000506.5(F2):c.1750C>T (p.Gln584Ter) single nucleotide variant Prothrombin deficiency, congenital [RCV001335364] Chr11:46739289 [GRCh38]
Chr11:46760839 [GRCh37]
NM_000506.5(F2):c.371G>A (p.Arg124Gln) single nucleotide variant Prothrombin deficiency, congenital [RCV001335365] Chr11:46723234 [GRCh38]
Chr11:46744784 [GRCh37]
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3535 AgrOrtholog
Ensembl Genes ENSG00000180210 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000308541 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387413 UniProtKB/TrEMBL
  ENSP00000433907 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442468 UniProtKB/TrEMBL
  ENST00000530231 UniProtKB/TrEMBL
Gene3D-CATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.740.10 UniProtKB/TrEMBL
GTEx ENSG00000180210 GTEx
Human Proteome Map F2 Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/TrEMBL
  GLA-like_dom_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prothrombin/thrombin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombin_light_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombin_light_chain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2147 UniProtKB/Swiss-Prot
OMIM 176930 OMIM
  188050 OMIM
  601367 OMIM
  613679 OMIM
  614390 OMIM
PANTHER PTHR24254:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gla UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thrombin_light UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB F2 RGD, PharmGKB
PIRSF Thrombin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLABLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTHROMBIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GLA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Q15253_HUMAN UniProtKB/TrEMBL
  THRB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R7F7 UniProtKB/Swiss-Prot
  B4E1A7 UniProtKB/Swiss-Prot
  Q4QZ40 UniProtKB/Swiss-Prot
  Q53H04 UniProtKB/Swiss-Prot
  Q53H06 UniProtKB/Swiss-Prot
  Q69EZ7 UniProtKB/Swiss-Prot
  Q7Z7P3 UniProtKB/Swiss-Prot
  Q9UCA1 UniProtKB/Swiss-Prot

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 F2  coagulation factor II, thrombin    coagulation factor II (thrombin)  Symbol and/or name change 5135510 APPROVED
2011-08-16 F2  coagulation factor II (thrombin)  F2  coagulation factor II (thrombin)  Symbol and/or name change 5135510 APPROVED