• Gene id: 2147

Gene Summary

• Gene Symbol: F2   Gene   UCSC   Ensembl
• Aliases: PT, RPRGL2, THPH1
• Gene name: coagulation factor II, thrombin
• Alternate names: prothrombin, prepro-coagulation factor II, prothrombin B-chain, thrombin factor II,
• Gene location: 11p11.2 (46719200: 46739505)     Exons: 14     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 300371

Protein Summary

• Protein general information: P00734  
  • 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]
  • Length: 622  
  • Mass: 70037
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALE
  SSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGA
  DLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRL
  AVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETG
  DGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMS
  PWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIH
  PRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQV
  VNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKY
  GFYTHVFRLKKWIQKVIDQFGE

• Structural information:
  • Protein Domains: (44..8-)
    (/note="Gla-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00463-)
    (108..18-)
    (/note="Kringle-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00121-)
    (213..29-)
    (/note="Kringle-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00121";-)
  • Interpro: IPR035972  IPR000294  IPR000001  IPR013806  IPR018056   IPR038178  IPR009003  IPR001314  IPR003966  IPR018992  IPR037111  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00011 PS50998 PS00021 PS50070 PS50240 PS00134 PS00135
  • CDD: cd00108 cd00190
  • 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 1DWE 1DX5 1E0F 1EB1 1EOJ 1EOL 1FPC 1FPH 1G30 1G32 1G37 1GHV 1GH
  • PDBsum: 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 1DWE 1DX5 1E0F 1EB1 1EOJ 1EOL 1FPC 1FPH 1G30 1G32 1G37 1GHV 1GH
  • DIP: 6115
  • STRING: ENSP00000308541
• Other Databases: GeneCards:  F2  Malacards:  F2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0030168	platelet activation	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0030194	positive regulation of blood coagulation	IBA	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007596	blood coagulation	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007599	hemostasis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006953	acute-phase response	IEA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030168	platelet activation	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0008047	enzyme activator activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0070053	thrombospondin receptor activity	IDA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0009611	response to wounding	IDA	biological process
GO:0030168	platelet activation	IDA	biological process
GO:0048712	negative regulation of astrocyte differentiation	IDA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IDA	biological process
GO:1900738	positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0051918	negative regulation of fibrinolysis	TAS	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0007166	cell surface receptor signaling pathway	IDA	biological process
GO:0030194	positive regulation of blood coagulation	IDA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IDA	biological process
GO:0045861	negative regulation of proteolysis	IDA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IDA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IDA	biological process
GO:0010544	negative regulation of platelet activation	TAS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0090218	positive regulation of lipid kinase activity	IDA	biological process
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	NAS	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0042730	fibrinolysis	IDA	biological process
GO:0051838	cytolysis by host of symbiont cells	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0070945	neutrophil-mediated killing of gram-negative bacterium	IDA	biological process
GO:0051838	cytolysis by host of symbiont cells	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	colocalizes with
GO:0070945	neutrophil-mediated killing of gram-negative bacterium	IDA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030193	regulation of blood coagulation	TAS	biological process
GO:0005102	signaling receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04080	Neuroactive ligand-receptor interaction
hsa04810	Regulation of actin cytoskeleton
hsa05130	Pathogenic Escherichia coli infection
hsa04072	Phospholipase D signaling pathway
hsa04611	Platelet activation
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Inherited thrombophilia	KEGG:H00223
Congenital prothrombin deficiency	KEGG:H01254
Inherited thrombophilia	KEGG:H00223
Congenital prothrombin deficiency	KEGG:H01254
Thrombosis	PMID:21070754
Sensorineural hearing loss	PMID:17334320
Osteonecrosis	PMID:16968732
Pre-eclampsia	PMID:16246971
Celiac disease	PMID:23556408
Sickle cell anemia	PMID:8191393
urinary bladder cancer	PMID:22236518
Intravascular coagulation	PMID:1336986
Intravascular coagulation	PMID:19682336
Portal vein thrombosis	PMID:28465646
factor VIII deficiency	PMID:26635073
hemophilia B	PMID:26635073
Huntington's disease	PMID:21297956
Carotid stenosis	PMID:15748240
Hereditary angioedema	PMID:9129025
Urticaria	PMID:21488867
Retinal vein occlusion	PMID:22800650
Prothrombin deficiency	PMID:8839854
Ovarian cancer	PMID:21833453
Asthma	PMID:21658190
Chronic obstructive pulmonary disease	PMID:21660493
Atopic dermatitis	PMID:21488867
Coronary artery disease	PMID:14961168
systemic scleroderma	PMID:9374919
Hyperglycemia	PMID:18487475
clear cell renal cell carcinoma	PMID:22065054
Eye disease	PMID:15077257
Myocardial infarction	PMID:12480694
hepatocellular carcinoma	PMID:7620113
Bullous pemphigoid	PMID:21488867
Crohn's disease	PMID:21593018
Systemic lupus erythematosus	PMID:20807656
type 2 diabetes mellitus	PMID:17971179
type 2 diabetes mellitus	PMID:18487475
Pulmonary embolism	PMID:25316662
obesity	PMID:21210148
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq