F2 (coagulation factor II, thrombin)

Gene

• Entrez ID: 2147
• Gene name: Coagulation factor II, thrombin
• Gene symbol: F2
• Synonyms (NCBI Gene): PT, RPRGL2, THPH1
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: 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 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

miRNA

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
MIRT551436	hsa-miR-1306-5p	HITS-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	HITS-CLIP	21572407
MIRT517921	hsa-miR-4740-3p	HITS-CLIP	21572407
MIRT551435	hsa-miR-660-3p	HITS-CLIP	21572407
MIRT551434	hsa-miR-939-3p	HITS-CLIP	21572407
MIRT551433	hsa-miR-6852-5p	HITS-CLIP	21572407
MIRT551432	hsa-miR-6742-3p	HITS-CLIP	21572407
MIRT517920	hsa-miR-532-3p	HITS-CLIP	21572407
MIRT551431	hsa-miR-378g	HITS-CLIP	21572407
MIRT517919	hsa-miR-6778-3p	HITS-CLIP	21572407
MIRT517918	hsa-miR-423-3p	HITS-CLIP	21572407
MIRT517917	hsa-miR-4437	HITS-CLIP	21572407
MIRT517916	hsa-miR-1260a	HITS-CLIP	21572407
MIRT517915	hsa-miR-1260b	HITS-CLIP	21572407
MIRT517914	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT551430	hsa-miR-1343-3p	HITS-CLIP	21572407
MIRT551429	hsa-miR-6783-3p	HITS-CLIP	21572407
MIRT517913	hsa-miR-4674	HITS-CLIP	21572407
MIRT673592	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT673591	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT673590	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT673593	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT673592	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT673591	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT673590	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT672193	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT647952	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT647950	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT647951	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT633778	hsa-miR-662	HITS-CLIP	23824327
MIRT633777	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT517920	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT633776	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633775	hsa-miR-1976	HITS-CLIP	23824327
MIRT517919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633774	hsa-miR-1206	HITS-CLIP	23824327
MIRT633773	hsa-miR-4279	HITS-CLIP	23824327
MIRT633772	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT551436	hsa-miR-1306-5p	PAR-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	21572407
MIRT551435	hsa-miR-660-3p	PAR-CLIP	21572407
MIRT551434	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT551433	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT551432	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT517920	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT551431	hsa-miR-378g	PAR-CLIP	21572407
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	21572407
MIRT517917	hsa-miR-4437	PAR-CLIP	21572407
MIRT517916	hsa-miR-1260a	PAR-CLIP	21572407
MIRT517915	hsa-miR-1260b	PAR-CLIP	21572407
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	21572407
MIRT551430	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT551429	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT517913	hsa-miR-4674	PAR-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	23446348
MIRT517920	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT517918	hsa-miR-423-3p	PAR-CLIP	23446348
MIRT517917	hsa-miR-4437	PAR-CLIP	23446348
MIRT517916	hsa-miR-1260a	PAR-CLIP	23446348
MIRT517915	hsa-miR-1260b	PAR-CLIP	23446348
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	23446348
MIRT517913	hsa-miR-4674	PAR-CLIP	23446348
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	27292025
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	27292025
MIRT517916	hsa-miR-1260a	PAR-CLIP	27292025
MIRT517916	hsa-miR-1260a	PAR-CLIP	27292025
MIRT517915	hsa-miR-1260b	PAR-CLIP	27292025
MIRT517915	hsa-miR-1260b	PAR-CLIP	27292025
MIRT551436	hsa-miR-1306-5p	PAR-CLIP	27292025
MIRT551430	hsa-miR-1343-3p	PAR-CLIP	27292025
MIRT647952	hsa-miR-34b-3p	PAR-CLIP	27292025
MIRT647950	hsa-miR-3614-5p	PAR-CLIP	27292025
MIRT551431	hsa-miR-378g	PAR-CLIP	27292025
MIRT551431	hsa-miR-378g	PAR-CLIP	27292025
MIRT517917	hsa-miR-4437	PAR-CLIP	27292025
MIRT517917	hsa-miR-4437	PAR-CLIP	27292025
MIRT517913	hsa-miR-4674	PAR-CLIP	27292025
MIRT517913	hsa-miR-4674	PAR-CLIP	27292025
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	27292025
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	27292025
MIRT647951	hsa-miR-6500-3p	PAR-CLIP	27292025
MIRT551435	hsa-miR-660-3p	PAR-CLIP	27292025
MIRT551432	hsa-miR-6742-3p	PAR-CLIP	27292025
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	27292025
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	27292025
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT551429	hsa-miR-6783-3p	PAR-CLIP	27292025
MIRT551433	hsa-miR-6852-5p	PAR-CLIP	27292025
MIRT551434	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT551434	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT735392	hsa-miR-409-3p	qRT-PCR	32246041
MIRT551436	hsa-miR-1306-5p	HITS-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	HITS-CLIP	21572407
MIRT517921	hsa-miR-4740-3p	HITS-CLIP	21572407
MIRT551435	hsa-miR-660-3p	HITS-CLIP	21572407
MIRT551434	hsa-miR-939-3p	HITS-CLIP	21572407
MIRT551433	hsa-miR-6852-5p	HITS-CLIP	21572407
MIRT551432	hsa-miR-6742-3p	HITS-CLIP	21572407
MIRT517920	hsa-miR-532-3p	HITS-CLIP	21572407
MIRT551431	hsa-miR-378g	HITS-CLIP	21572407
MIRT517919	hsa-miR-6778-3p	HITS-CLIP	21572407
MIRT517918	hsa-miR-423-3p	HITS-CLIP	21572407
MIRT517917	hsa-miR-4437	HITS-CLIP	21572407
MIRT517916	hsa-miR-1260a	HITS-CLIP	21572407
MIRT517915	hsa-miR-1260b	HITS-CLIP	21572407
MIRT517914	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT551430	hsa-miR-1343-3p	HITS-CLIP	21572407
MIRT551429	hsa-miR-6783-3p	HITS-CLIP	21572407
MIRT517913	hsa-miR-4674	HITS-CLIP	21572407
MIRT673592	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT673591	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT673590	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT673593	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT673592	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT673591	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT673590	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT672199	hsa-miR-3655	HITS-CLIP	23824327
MIRT672198	hsa-miR-3135b	HITS-CLIP	23824327
MIRT672197	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT672196	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT672195	hsa-miR-3652	HITS-CLIP	23824327
MIRT672194	hsa-miR-4430	HITS-CLIP	23824327
MIRT672193	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT672192	hsa-miR-5698	HITS-CLIP	23824327
MIRT647952	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT647950	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT647951	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT633778	hsa-miR-662	HITS-CLIP	23824327
MIRT633777	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT517920	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT633776	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633775	hsa-miR-1976	HITS-CLIP	23824327
MIRT517919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT633774	hsa-miR-1206	HITS-CLIP	23824327
MIRT633773	hsa-miR-4279	HITS-CLIP	23824327
MIRT633772	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT551436	hsa-miR-1306-5p	PAR-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	21572407
MIRT551435	hsa-miR-660-3p	PAR-CLIP	21572407
MIRT551434	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT551433	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT551432	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT517920	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT551431	hsa-miR-378g	PAR-CLIP	21572407
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	21572407
MIRT517917	hsa-miR-4437	PAR-CLIP	21572407
MIRT517916	hsa-miR-1260a	PAR-CLIP	21572407
MIRT517915	hsa-miR-1260b	PAR-CLIP	21572407
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	21572407
MIRT551430	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT551429	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT517913	hsa-miR-4674	PAR-CLIP	21572407
MIRT517922	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT517921	hsa-miR-4740-3p	PAR-CLIP	23446348
MIRT517920	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT517919	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT517918	hsa-miR-423-3p	PAR-CLIP	23446348
MIRT517917	hsa-miR-4437	PAR-CLIP	23446348
MIRT517916	hsa-miR-1260a	PAR-CLIP	23446348
MIRT517915	hsa-miR-1260b	PAR-CLIP	23446348
MIRT517914	hsa-miR-6749-3p	PAR-CLIP	23446348
MIRT517913	hsa-miR-4674	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IDA	20421939
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	1672265, 12855810
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	8626514, 12855810
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2013320, 3279057, 6323392, 8530382, 8626514, 9183005, 14691232, 16230339, 16230340, 28743742, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9639571, 20421939
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
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:0006508	Process	Proteolysis	TAS	7507931
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	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	7592664
GO:0007599	Process	Hemostasis	IEA
GO:0008083	Function	Growth factor activity	TAS	8626514
GO:0008201	Function	Heparin binding	IDA	20421939
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
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:0010468	Process	Regulation of gene expression	IEA
GO:0010544	Process	Negative regulation of platelet activation	TAS	17379830
GO:0016787	Function	Hydrolase activity	IEA
GO:0030168	Process	Platelet activation	IBA
GO:0030168	Process	Platelet activation	IDA	9038223
GO:0030168	Process	Platelet activation	IEA
GO:0030193	Process	Regulation of blood coagulation	TAS	12855810
GO:0030194	Process	Positive regulation of blood coagulation	IBA
GO:0030194	Process	Positive regulation of blood coagulation	IDA	9038223
GO:0030195	Process	Negative regulation of blood coagulation	IDA	10761923
GO:0030195	Process	Negative regulation of blood coagulation	IDA	10761923
GO:0030195	Process	Negative regulation of blood coagulation	TAS	15005336
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	IBA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	9639571
GO:0042730	Process	Fibrinolysis	IDA	12855810
GO:0045861	Process	Negative regulation of proteolysis	IDA	1695900
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	NAS	10692450
GO:0048018	Function	Receptor ligand activity	IDA	10761923
GO:0048712	Process	Negative regulation of astrocyte differentiation	IDA	1691280
GO:0050878	Process	Regulation of body fluid levels	IEA
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:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051918	Process	Negative regulation of fibrinolysis	TAS	17379830
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	20421939
GO:0070053	Function	Thrombospondin receptor activity	IDA	2435757
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070493	Process	Thrombin-activated receptor signaling pathway	IDA	7559487, 11309392
GO:0070945	Process	Neutrophil-mediated killing of gram-negative bacterium	IDA	20421939
GO:0072562	Component	Blood microparticle	HDA	22516433
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:1990806	Process	Ligand-gated ion channel signaling pathway	IEA
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	17275676

Other IDs

• MIM: 176930
• HGNC: 3535
• e!Ensembl: 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:

  MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLEREC
  VEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHV
  NITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQE
  CSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASA
  QAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETG
  DGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYI
  DGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTEN
  DLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHP
  VCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDST
  RIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKY
  GFYTHVFRLKKWIQKVIDQFGE

• Sequence length: 622

Pathways

KEGG:

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

Reactome:

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebral palsy	Likely pathogenic; Pathogenic	rs1799963	RCV001794446	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coagulation factor deficiency syndrome	Likely pathogenic	rs1227147475	RCV000852095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital prothrombin deficiency	Likely pathogenic; Pathogenic	rs1401703940, rs2134532862, rs2134533215, rs1310397756, rs2134537035, rs2064886777, rs202003146, rs747234596, rs121918477, rs121918478, rs121918479, rs121918480, rs121918481, rs387906522, rs1799963, rs121918483, rs121918484, rs121918485, rs121918486, rs113164417, rs762292061, rs1183827513, rs775021214, rs2502830373, rs2502855781, rs2502823662, rs1202167691, rs2502830519, rs771099379, rs1227147475, rs387907201	RCV005200886 RCV001420453 RCV001420454 RCV001420456 RCV001420457 RCV003626687 RCV003515537 RCV002245495 RCV002468924 RCV002468925 RCV002468926 RCV002468927 RCV002468928 RCV000014236 RCV000205022 RCV002468929 RCV002468930 RCV002468931 RCV002468932 RCV003516329 RCV003516330 RCV003516331 RCV003627748 RCV003626396 RCV003626587 RCV003626567 RCV003811590 RCV003829080 RCV003874001 RCV001678590 RCV003514423	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II	Pathogenic	rs121918482	RCV000014235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
F2-related disorder	Pathogenic; Likely pathogenic	rs202003146, rs2502824222	RCV004736344 RCV004555656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Pathogenic; Likely pathogenic	rs202003146, rs1799963	RCV005047641 RCV000014238	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pregnancy loss, recurrent, susceptibility to, 2	Pathogenic; Likely pathogenic	rs202003146, rs1799963	RCV005047641 RCV000022729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prolonged prothrombin time	Likely pathogenic	rs754231232, rs767702854, rs1592422740	RCV000852251 RCV000851966 RCV000851931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia caused by F2 prothrombin deficiency	Likely pathogenic; Pathogenic	rs1799963	RCV002468555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia due to thrombin defect	Pathogenic; Likely pathogenic	rs202003146, rs121918477, rs1799963, rs387907201	RCV005047641 RCV005419864 RCV005042047 RCV005419875 RCV005420251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Venous thromboembolism	Likely pathogenic; Pathogenic	rs1799963	RCV000826090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL SINOVENOUS THROMBOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL VENOUS SINUS THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FACTOR II DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COR PULMONALE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED INTRAVASCULAR COAGULATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTHROMBIN TYPE 3	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, VASCULAR	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOEMBOLISM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations