InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: F2

Summary

InnateDB Protein

IDBP-42050.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

coagulation factor II (thrombin)

Synonyms

PT; RPRGL2; THPH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000308541

InnateDB Gene

IDBG-42048 (F2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:2856554}.

Subcellular Localization

Secreted, extracellular space.

Disease Associations

Factor II deficiency (FA2D) [MIM:613679]: A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. {ECO:0000269PubMed:1349838, ECO:0000269PubMed:1354985, ECO:0000269PubMed:1421398, ECO:0000269PubMed:14962227, ECO:0000269PubMed:2719946, ECO:0000269PubMed:3242619, ECO:0000269PubMed:3567158, ECO:0000269PubMed:3771562, ECO:0000269PubMed:3801671, ECO:0000269PubMed:6405779, ECO:0000269PubMed:7792730, ECO:0000269PubMed:7865694}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Thrombophilia due to thrombin defect (THPH1) [MIM:188050]: A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. Note=The disease is caused by mutations affecting the gene represented in this entry. A common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis.Pregnancy loss, recurrent, 2 (RPRGL2) [MIM:614390]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269PubMed:11506076}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed by the liver and secreted in plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity
GO:0005102	receptor binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0008233	peptidase activity
GO:0070053	thrombospondin receptor activity

Biological Process

GO:0001934	positive regulation of protein phosphorylation
GO:0006508	proteolysis
GO:0006953	acute-phase response
GO:0007166	cell surface receptor signaling pathway
GO:0007275	multicellular organismal development
GO:0007596	blood coagulation
GO:0007597	blood coagulation, intrinsic pathway
GO:0008284	positive regulation of cell proliferation
GO:0008360	regulation of cell shape
GO:0009611	response to wounding
GO:0010468	regulation of gene expression
GO:0010544	negative regulation of platelet activation
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
GO:0017187	peptidyl-glutamic acid carboxylation
GO:0030168	platelet activation
GO:0030193	regulation of blood coagulation
GO:0030194	positive regulation of blood coagulation
GO:0030307	positive regulation of cell growth
GO:0032967	positive regulation of collagen biosynthetic process
GO:0042730	fibrinolysis
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0045861	negative regulation of proteolysis
GO:0048712	negative regulation of astrocyte differentiation
GO:0050900	leukocyte migration
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol
GO:0051480	cytosolic calcium ion homeostasis
GO:0051918	negative regulation of fibrinolysis
GO:1900738	positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway
GO:2000379	positive regulation of reactive oxygen species metabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0005796	Golgi lumen
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle

Protein Structure and Domains

PDB ID

InterPro

IPR000001 Kringle
IPR000294 Gamma-carboxyglutamic acid-rich (GLA) domain
IPR001254 Peptidase S1
IPR001314 Peptidase S1A, chymotrypsin-type
IPR003966 Prothrombin/thrombin
IPR009003 Trypsin-like cysteine/serine peptidase domain
IPR013806 Kringle-like fold
IPR018992 Thrombin light chain

PFAM

PF00051
PF00594
PF00089
PF09396

PRINTS

PR00001
PR00722
PR01505

PIRSF

PIRSF001149

SMART

SM00130
SM00069
SM00020

TIGRFAMs

Post-translational Modifications

Modification

Cross-References