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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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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.
 
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
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
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

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