Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2147
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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, serine protease, thrombin factor II,
Gene location 11p11.2 (46719165: 46739507)     Exons: 14     NC_000011.10
Gene summary(Entrez) Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 lead to various forms of thrombosis and dysprothrombinemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
OMIM 176930

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: 70,037

Tissue specificity: Expressed by the liver and secreted in plasma.

Sequence MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALE
SSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGA
DLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRL
AVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETG
DGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMS
PWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIH
PRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQV
VNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKY
GFYTHVFRLKKWIQKVIDQFGE
Structural information
Protein Domains
Gla. (44-89)
Kringle (108-186)
Kringle (213-291)
Peptidase (364-618)
Interpro:  IPR035972 IPR000294 IPR000001 IPR013806 IPR018056 IPR038178 IPR009003 IPR001314 IPR003966 IPR018992 IPR037111 IPR001254 IPR018114 IPR033116
Prosite:   PS00011 PS50998 PS00021 PS50070 PS50240 PS00134 PS00135

Pfam:  
PF00594 PF00051 PF09396 PF00089
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
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

DIP:  
6115
STRING:   ENSP00000308541;
Other Databases GeneCards:  F2;  Malacards:  F2

Gene ontology


GO accessionTerm nameEvidence codeGo category

KEGG pathways

hsa04610  Complement and coagulation cascades
hsa04080  Neuroactive ligand
hsa04810  Regulation of actin cytoskeleton

Diseases

Associated diseases References
Congenital prothrombin deficiency KEGGH01254
Inherited thrombophilia KEGGH00223
Endometriosis PMID: 15755869

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15755869 Endomtrios
is


PAR1
Show abstract