Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2147
Gene name Gene Name - the full gene name approved by the HGNC.
Coagulation factor II, thrombin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
F2
Synonyms (NCBI Gene) Gene synonyms aliases
PT, RPRGL2, THPH1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RPRGL2, THPH1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary 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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001484 hsa-miR-16-5p pSILAC 18668040
MIRT021414 hsa-miR-9-5p Microarray 17612493
MIRT001360 hsa-miR-1-3p Proteomics 18668040
MIRT001484 hsa-miR-16-5p Proteomics;Other 18668040
MIRT001622 hsa-let-7b-5p Proteomics 18668040
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176930 3535 ENSG00000180210
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
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phospholipase D signaling pathway
Neuroactive ligand-receptor interaction
Complement and coagulation cascades
Platelet activation
Regulation of actin cytoskeleton
Pathogenic Escherichia coli infection
Coronavirus disease - COVID-19
Pathways in cancer
  Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Cell surface interactions at the vascular wall
Peptide ligand-binding receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
G alpha (q) signalling events
Thrombin signalling through proteinase activated receptors (PARs)
Platelet Aggregation (Plug Formation)
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (65 more)
8333868
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
18618250
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
22841818
Unknown
Disease term Disease name Evidence References Source
Cerebral infarction Cerebral Infarction ClinVar
Ischemic stroke Ischemic stroke 26908601 ClinVar
Myocardial infarction Myocardial Infarction 9531249, 9292507, 10027711 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 17454173
Abortion Habitual Associate 26060483, 27525841, 28819944
Abortion Spontaneous Associate 11190900, 16138341, 18627609, 18931510, 25153695, 28488549, 36554381
Abruptio Placentae Associate 12857557
Activated Protein C Resistance Associate 10233368, 8573079
Activated Protein C Resistance Inhibit 11703344
Acute Disease Associate 16649726
Acute Lung Injury Associate 31054328
Acute On Chronic Liver Failure Associate 38111573
Afibrinogenemia Associate 10688828, 33668986