F2 (coagulation factor II, thrombin)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2147 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Coagulation factor II, thrombin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
F2 |
SynonymsGene synonyms aliases
|
PT, RPRGL2, THPH1 |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1799963 |
G>A |
Pathogenic, risk-factor |
Downstream transcript variant, genic downstream transcript variant, 3 prime UTR variant |
rs62623459 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs121918477 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918478 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918479 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918480 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918481 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918482 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918483 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918484 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918485 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs121918486 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs387906522 |
->T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs387907201 |
G>A,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs754231232 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs767702854 |
AAG>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
rs776618390 |
AT>- |
Uncertain-significance, likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1227147475 |
A>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1592422740 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001530 |
Function |
Lipopolysaccharide binding |
IDA |
20421939 |
GO:0001934 |
Process |
Positive regulation of protein phosphorylation |
IDA |
7559487 |
GO:0004252 |
Function |
Serine-type endopeptidase activity |
IBA |
21873635 |
GO:0004252 |
Function |
Serine-type endopeptidase activity |
IDA |
1672265, 12855810 |
GO:0005102 |
Function |
Signaling receptor binding |
IPI |
8626514, 12855810 |
GO:0005509 |
Function |
Calcium ion binding |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
3279057, 6323392, 8530382, 8626514, 14691232, 16230339, 16230340, 32814053 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470 |
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Component |
Extracellular space |
IDA |
9639571, 20421939 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005796 |
Component |
Golgi lumen |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006508 |
Process |
Proteolysis |
IEA |
|
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
TAS |
|
GO:0006953 |
Process |
Acute-phase response |
IEA |
|
GO:0007166 |
Process |
Cell surface receptor signaling pathway |
IDA |
1672265 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
TAS |
|
GO:0007275 |
Process |
Multicellular organism development |
TAS |
9639571 |
GO:0007596 |
Process |
Blood coagulation |
TAS |
|
GO:0007597 |
Process |
Blood coagulation, intrinsic pathway |
TAS |
|
GO:0008047 |
Function |
Enzyme activator activity |
IEA |
|
GO:0008083 |
Function |
Growth factor activity |
TAS |
8626514 |
GO:0008201 |
Function |
Heparin binding |
IDA |
20421939 |
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IEA |
|
GO:0008360 |
Process |
Regulation of cell shape |
IEA |
|
GO:0009611 |
Process |
Response to wounding |
IDA |
9639571 |
GO:0009897 |
Component |
External side of plasma membrane |
IDA |
20421939 |
GO:0010544 |
Process |
Negative regulation of platelet activation |
TAS |
17379830 |
GO:0014068 |
Process |
Positive regulation of phosphatidylinositol 3-kinase signaling |
IEA |
|
GO:0030168 |
Process |
Platelet activation |
IBA |
21873635 |
GO:0030168 |
Process |
Platelet activation |
IDA |
9038223 |
GO:0030168 |
Process |
Platelet activation |
TAS |
|
GO:0030193 |
Process |
Regulation of blood coagulation |
TAS |
12855810 |
GO:0030194 |
Process |
Positive regulation of blood coagulation |
IBA |
21873635 |
GO:0030194 |
Process |
Positive regulation of blood coagulation |
IDA |
9038223 |
GO:0030307 |
Process |
Positive regulation of cell growth |
IEA |
|
GO:0030449 |
Process |
Regulation of complement activation |
TAS |
|
GO:0032967 |
Process |
Positive regulation of collagen biosynthetic process |
IDA |
9639571 |
GO:0042730 |
Process |
Fibrinolysis |
IDA |
12855810 |
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0045861 |
Process |
Negative regulation of proteolysis |
IDA |
1695900 |
GO:0046427 |
Process |
Positive regulation of receptor signaling pathway via JAK-STAT |
NAS |
10692450 |
GO:0048712 |
Process |
Negative regulation of astrocyte differentiation |
IDA |
1691280 |
GO:0050900 |
Process |
Leukocyte migration |
TAS |
|
GO:0051281 |
Process |
Positive regulation of release of sequestered calcium ion into cytosol |
IDA |
1672265, 19052258 |
GO:0051480 |
Process |
Regulation of cytosolic calcium ion concentration |
IDA |
19052258 |
GO:0051838 |
Process |
Cytolysis by host of symbiont cells |
IDA |
20421939 |
GO:0051918 |
Process |
Negative regulation of fibrinolysis |
TAS |
17379830 |
GO:0061844 |
Process |
Antimicrobial humoral immune response mediated by antimicrobial peptide |
IDA |
20421939 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
28327460 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
IBA |
21873635 |
GO:0070053 |
Function |
Thrombospondin receptor activity |
IDA |
2435757 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0070945 |
Process |
Neutrophil-mediated killing of gram-negative bacterium |
IDA |
20421939 |
GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
GO:0090218 |
Process |
Positive regulation of lipid kinase activity |
IDA |
11309392 |
GO:1900016 |
Process |
Negative regulation of cytokine production involved in inflammatory response |
IDA |
20421939 |
GO:1900182 |
Process |
Positive regulation of protein localization to nucleus |
IDA |
11309392 |
GO:1900738 |
Process |
Positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway |
IDA |
20164183 |
GO:2000379 |
Process |
Positive regulation of reactive oxygen species metabolic process |
IDA |
17275676 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P00734 |
Protein name |
Prothrombin (EC 3.4.21.5) (Coagulation factor II) [Cleaved into: Activation peptide fragment 1; Activation peptide fragment 2; Thrombin light chain; Thrombin heavy chain] |
Protein function |
Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Activates co |
PDB |
1A2C
,
1A3B
,
1A3E
,
1A46
,
1A4W
,
1A5G
,
1A61
,
1ABI
,
1ABJ
,
1AD8
,
1AE8
,
1AFE
,
1AHT
,
1AI8
,
1AIX
,
1AWF
,
1AWH
,
1AY6
,
1B5G
,
1B7X
,
1BA8
,
1BB0
,
1BCU
,
1BHX
,
1BMM
,
1BMN
,
1BTH
,
1C1U
,
1C1V
,
1C1W
,
1C4U
,
1C4V
,
1C4Y
,
1C5L
,
1C5N
,
1C5O
,
1CA8
,
1D3D
,
1D3P
,
1D3Q
,
1D3T
,
1D4P
,
1D6W
,
1D9I
,
1DE7
,
1DIT
,
1DM4
,
1DOJ
,
1DWB
,
1DWC
,
1DWD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00594 |
Gla |
48 → 88 |
Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain |
Domain |
PF00051 |
Kringle |
108 → 186 |
Kringle domain |
Domain |
PF00051 |
Kringle |
213 → 291 |
Kringle domain |
Domain |
PF09396 |
Thrombin_light |
316 → 363 |
Thrombin light chain |
Domain |
PF00089 |
Trypsin |
364 → 613 |
Trypsin |
Domain |
|
Sequence |
|
Sequence length |
622 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
8333868 |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
|
Cerebral infarction |
Cerebral Infarction |
rs2230500 |
|
Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
18618250 |
Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
9531249, 9292507, 10027711 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
22841818 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
26001728 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
25821032, 28540026 |
Thrombophilia |
Thrombophilia |
rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916 |
16628723 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Blood coagulation disorders |
Blood Coagulation Disorders |
|
17721328 |
Brain infarction |
Subcortical Infarction |
|
|
Cerebral ischemia |
Brain Ischemia |
|
15534175, 14753426 |
Cerebral sinovenous thrombosis |
Cerebral sinovenous thrombosis |
|
|
Congenital factor ii deficiency |
Congenital factor II deficiency |
|
|
Development disorder |
Child Development Disorders, Pervasive |
|
28540026 |
Disseminated intravascular coagulation |
Disseminated Intravascular Coagulation |
|
1894189 |
Factor ii deficiency |
Factor II deficiency |
|
25242243, 23852823 |
Fatty liver |
Fatty Liver, Steatohepatitis |
|
20008134 |
Hereditary factor ii deficiency disease |
Hereditary factor II deficiency disease |
|
23852823, 25242243 |
Hypoprothrombinemia |
Hypoprothrombinemias |
|
7740448, 3567158 |
Inherited factor ii deficiency |
Inherited Factor II deficiency |
|
3771562, 3567158, 9569177, 3242619, 1421398, 25242243, 6405779, 1349838, 3801671, 14962227, 7792730, 23852823, 7865694, 2719946, 19289024, 1354985 |
Intracranial sinus thrombophlebitis |
Intracranial Sinus Thrombophlebitis |
|
12269725 |
Ischemic stroke |
Ischemic stroke |
rs6025, rs1799963, rs1799983 |
26908601 |
Liver carcinoma |
Liver carcinoma |
|
2821104 |
Liver cirrhosis |
Liver Cirrhosis |
|
10216089 |
Liver fibrosis |
Fibrosis, Liver |
|
10216089 |
Mesenteric arterial embolus |
Acute Mesenteric Arterial Embolus |
|
24282370 |
Mesenteric arterial thrombosis |
Acute Mesenteric Arterial Thrombosis |
|
24282370 |
Mesenteric vascular insufficiency |
Mesenteric vascular insufficiency |
|
24282370 |
Nephrosis |
Nephrosis |
|
18541230 |
Non rare thrombophilia |
NON RARE IN EUROPE: Non rare thrombophilia |
|
|
Non-alcoholic fatty liver disease |
Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis |
|
22841818 |
Nonocclusive mesenteric ischemia |
Nonocclusive Mesenteric Ischemia |
|
24282370 |
Occlusive mesenteric arterial ischemia |
Occlusive Mesenteric Arterial Ischemia |
|
24282370 |
Paratuberculosis |
Paratuberculosis |
|
22633222 |
Petrous sinus thrombophlebitis |
Petrous Sinus Thrombophlebitis |
|
12269725 |
Petrous sinus thrombosis |
Petrous Sinus Thrombosis |
|
12269725 |
Senile dementia |
Presenile dementia, Acute Confusional Senile Dementia |
|
8333868 |
Sinus thrombosis, intracranial |
Sinus Thrombosis, Intracranial |
|
12269725 |
Skin diseases, vascular |
Skin Diseases, Vascular |
|
17535202 |
Stroke |
Cerebrovascular accident, Acute Cerebrovascular Accidents |
|
15059842, 26908601, 27031503, 19652888, 11443298, 15534175, 15534175 |
Thrombosis |
Deep Vein Thrombosis, Thrombosis of cerebral veins |
|
19920886, 9869612, 12296757, 26908601 |
|
|
|