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F2 Gene

protein-coding GIFtS: 69

GC11P046697

coagulation factor II (thrombin)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 3.4.21.5 ^³
PT ^²

Descriptions
Coagulation factor II ^², ³
coagulation factor II (thrombin) ^²
prothrombin B-chain ^²
serine protease ^²

External Ids
HGNC: 3535¹
Entrez Gene: 2147²
UniProtKB: P00734³
Ensembl: ENSG00000180210⁷

Search outside databases for aliases for F2 gene

Previous GC identifers: GC11M048740 GC11P047618 GC11P046772 GC11P046705

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for F2:

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. Mutations in F2 leads to

various forms of thrombosis and dysprothrombinemia. [provided by RefSeq]

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734

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

Gene Wiki entry for F2 (Thrombin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the F2 gene

Entrez Gene cytogenetic band: 11p11 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11-q12

F2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P046697: (about GC identifiers)

Start:	46,697,331 bp from pter
End:	46,717,631 bp from pter
Size:	20,301 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734 (See protein sequence)

Recommended Name: Prothrombin precursor

Size: 622 amino acids; 70037 Da

Subcellular location: Secreted, extracellular space

Miscellaneous: Prothrombin is activated on the surface of a phospholipid membrane that binds the

amino end of prothrombin and factors Va and Xa in Ca-dependent interactions; factor Xa removes the

activation peptide and cleaves the remaining part into light and heavy chains. The activation

process starts slowly because factor V itself has to be activated by the initial, small amounts of

thrombin

Miscellaneous: It is not known whether 1 or 2 smaller activation peptides, with additional cleavage

after Arg-314, are released in natural blood clotting

Miscellaneous: Thrombin can itself cleave the N-terminal fragment (fragment 1) of the prothrombin,

prior to its activation by factor Xa

Miscellaneous: The cleavage after Arg-198, observed in vitro, does not occur in plasma

PDB structures from and Proteopedia :

1A2C (3D)

1A3B (3D)

1A3E (3D)

1A46 (3D)

1A4W (3D)

1A5G (3D)

1A61 (3D)

1ABI (3D)

1ABJ (3D)

1AD8 (3D)

1AE8 (3D)

1AFE (3D)

1AHT (3D)

1AI8 (3D)

1AIX (3D)

1AWF (3D)

1AWH (3D)

1AY6 (3D)

1B5G (3D)

1B7X (3D)

1BA8 (3D)

1BB0 (3D)

1BCU (3D)

1BHX (3D)

1BMM (3D)

1BMN (3D)

1BTH (3D)

1C1U (3D)

1C1V (3D)

1C1W (3D)

1C4U (3D)

1C4V (3D)

1C4Y (3D)

1C5L (3D)

1C5N (3D)

1C5O (3D)

1CA8 (3D)

1D3D (3D)

1D3P (3D)

1D3Q (3D)

1D3T (3D)

1D4P (3D)

1D6W (3D)

1D9I (3D)

1DE7 (3D)

1DIT (3D)

1DM4 (3D)

1DOJ (3D)

1DWB (3D)

1DWC (3D)

1DWD (3D)

1DWE (3D)

1DX5 (3D)

1E0F (3D)

1EB1 (3D)

1EOJ (3D)

1EOL (3D)

1FPC (3D)

1FPH (3D)

1G30 (3D)

1G32 (3D)

1G37 (3D)

1GHV (3D)

1GHW (3D)

1GHX (3D)

1GHY (3D)

1GJ4 (3D)

1GJ5 (3D)

1H8D (3D)

1H8I (3D)

1HAG (3D)

1HAH (3D)

1HAI (3D)

1HAO (3D)

1HAP (3D)

1HBT (3D)

1HDT (3D)

1HGT (3D)

1HLT (3D)

1HUT (3D)

1HXE (3D)

1HXF (3D)

1IHS (3D)

1IHT (3D)

1JMO (3D)

1JOU (3D)

1JWT (3D)

1K21 (3D)

1K22 (3D)

1KTS (3D)

1KTT (3D)

1LHC (3D)

1LHD (3D)

1LHE (3D)

1LHF (3D)

1LHG (3D)

1MH0 (3D)

1MU6 (3D)

1MU8 (3D)

1MUE (3D)

1NM6 (3D)

1NO9 (3D)

1NRN (3D)

1NRO (3D)

1NRP (3D)

1NRQ (3D)

1NRR (3D)

1NRS (3D)

1NT1 (3D)

1NU7 (3D)

1NU9 (3D)

1NY2 (3D)

1NZQ (3D)

1O0D (3D)

1O2G (3D)

1O5G (3D)

1OOK (3D)

1OYT (3D)

1P8V (3D)

1PPB (3D)

1QBV (3D)

1QHR (3D)

1QJ1 (3D)

1QJ6 (3D)

1QJ7 (3D)

1QUR (3D)

1RD3 (3D)

1RIW (3D)

1SB1 (3D)

1SFQ (3D)

1SG8 (3D)

1SGI (3D)

1SHH (3D)

1SL3 (3D)

1SR5 (3D)

1T4U (3D)

1T4V (3D)

1TA2 (3D)

1TA6 (3D)

1TB6 (3D)

1TBZ (3D)

1THP (3D)

1THR (3D)

1THS (3D)

1TMB (3D)

1TMT (3D)

1TMU (3D)

1TOM (3D)

1TQ0 (3D)

1TQ7 (3D)

1TWX (3D)

1UMA (3D)

1UVS (3D)

1VR1 (3D)

1VZQ (3D)

1W7G (3D)

1WAY (3D)

1WBG (3D)

1XM1 (3D)

1XMN (3D)

1YPE (3D)

1YPG (3D)

1YPJ (3D)

1YPK (3D)

1YPL (3D)

1YPM (3D)

1Z71 (3D)

1Z8I (3D)

1Z8J (3D)

1ZGI (3D)

1ZGV (3D)

1ZRB (3D)

2A0Q (3D)

2A2X (3D)

2A45 (3D)

2AFQ (3D)

2ANK (3D)

2ANM (3D)

2B5T (3D)

2BDY (3D)

2BVR (3D)

2BVS (3D)

2BVX (3D)

2BXT (3D)

2BXU (3D)

2C8W (3D)

2C8X (3D)

2C8Y (3D)

2C8Z (3D)

2C90 (3D)

2C93 (3D)

2CF8 (3D)

2CF9 (3D)

2CN0 (3D)

2FEQ (3D)

2FES (3D)

2GDE (3D)

2GP9 (3D)

2H9T (3D)

2HGT (3D)

2HNT (3D)

2HPP (3D)

2HPQ (3D)

2HWL (3D)

2JH0 (3D)

2JH5 (3D)

2JH6 (3D)

2OD3 (3D)

2PGB (3D)

2PGQ (3D)

2PKS (3D)

2PW8 (3D)

2R2M (3D)

2THF (3D)

2UUF (3D)

2UUJ (3D)

2UUK (3D)

2V3H (3D)

2V3O (3D)

2ZC9 (3D)

2ZDA (3D)

2ZDV (3D)

2ZF0 (3D)

2ZFF (3D)

2ZFP (3D)

2ZFQ (3D)

2ZFR (3D)

2ZG0 (3D)

2ZGB (3D)

2ZGX (3D)

2ZHE (3D)

2ZHF (3D)

2ZHQ (3D)

2ZHW (3D)

2ZI2 (3D)

2ZIQ (3D)

2ZNK (3D)

2ZO3 (3D)

3B9F (3D)

3BEF (3D)

3BEI (3D)

3BF6 (3D)

3BIU (3D)

3BIV (3D)

3BV9 (3D)

3C1K (3D)

3C27 (3D)

3D49 (3D)

3DD2 (3D)

3E6P (3D)

3EGK (3D)

3HAT (3D)

3HTC (3D)

4HTC (3D)

4THN (3D)

5GDS (3D)

7KME (3D)

8KME (3D)

Secondary accessions: B2R7F7 B4E1A7 Q4QZ40 Q53H04 Q53H06 Q7Z7P3 Q9UCA1

Post-translational modifications:

The gamma-carboxyglutamyl residues, which bind calcium ions, result from the carboxylation of

glutamyl residues by a microsomal enzyme, the vitamin K-dependent carboxylase. The modified

residues are necessary for the calcium-dependent interaction with a negatively charged

phospholipid surface, which is essential for the conversion of prothrombin to thrombin¹

REFSEQ proteins: NP_000497.1

ENSEMBL proteins:

ENSP00000308541

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins and CompoZr ZFN for F2
	R&D Systems Recombinant & Natural Proteins for F2 (Coagulation Factor II/Thrombin)
	Enzo Life Sciences proteins for F2
	Recombinant Proteins from Abcam (Prethrombin 2, Alpha Thrombin, Prothrombin, Gamma Thrombin, Beta Thrombin, Thrombin)
	Human Recombinant Proteins from Abnova (F2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005615	extracellular space	TAS	3242619
GO:0005625	soluble fraction	TAS	2719946
GO:0005886	plasma membrane	EXP	2538457 12907439

About this table

Antibodies for F2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of F2
	Sigma-Aldrich Antibodies for F2
	R&D Systems Antibodies for F2 (Coagulation Factor II/Thrombin)
	Antibodies from Abcam (Prethrombin 2, Alpha Thrombin, Prothrombin, Gamma Thrombin, Beta Thrombin, Thrombin), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for F2

Assays for F2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P00734

ProtoNet protein and cluster: P00734

5/6 Blocks protein families (see all 6 ):

IPB000001 Kringle

IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

IPB002383 Coagulation factor GLA domain signature

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain

Similarity: Contains 2 kringle domains

Similarity: Contains 1 peptidase S1 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (F2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (F2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000506

Applied Biosystems Silencer® siRNAs for F2

Sigma-Aldrich siRNA and siRNA Panels for F2

Sigma-Aldrich shRNA Panels and shRNA for F2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for F2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000506
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000506
untagged cDNA clone in CMV expression vector: NM_000506

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000506

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734

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

Catalytic activity: Selective cleavage of Arg- -Gly bonds in fibrinogen to form fibrin and release

fibrinopeptides A and B

Enzyme Number (IUBMB): EC 3.4.21.5

Genatlas biochemistry entry for F2:

coagulation factor II,vitamin K-dependent (prothrombin)

12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for F2):

	cellular	embryogenesis	growth/size	homeostasis/metabolism
immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system
normal	reproductive system

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IDA	12855810
GO:0005102	receptor binding	IPI	12855810
GO:0005509	calcium ion binding	IEA	--
GO:0008233	peptidase activity	IEA	--
GO:0070053	thrombospondin receptor activity	IDA	2435757

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for F2 (Your Favorite Gene powered by Ingenuity) (see all 6 )

Acute Phase Response Signaling
Clathrin-mediated Endocytosis
Actin Cytoskeleton Signaling
Lysine Degradation
Thrombin Signaling

GeneDecks F2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for F2

2 Interacting proteins for F2 (P00734¹) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
THBD P07204¹ EBI-297094, EBI-941422
- - (xeno) Q846V4¹ EBI-297094, EBI-989571
About this table
5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14 ):
GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 7507931
GO:0006915 apoptosis TAS 10692450
GO:0006919 activation of caspase activity TAS 10692450
GO:0006953 acute-phase response IEA --
GO:0007166 cell surface receptor linked signal transduction IDA 1672265
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for F2

Sigma-Aldrich Small Molecules for F2:

Inhibitor

Browse Tocris compounds for F2
UniProtKB/Swiss-Prot: THRB_HUMAN, P00734

Pharmaceutical: The peptide TP508 also known as Chrysalin (Orthologic) could be used to accelerate

repair of both soft and hard tissues

10/29 Novoseek chemical compound relationships for F2 gene (see all 29 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	92.85	1307	2037675 (5), 9746270 (4), 11979291 (4), 16454558 (4) (see all 99)
mnpt	82.28	16	9233567 (1), 10926265 (1), 9365404 (1), 9462248 (1) (see all 12)
hepaplastin	81.79	35	1766133 (1), 7874270 (1), 7782035 (1), 10590673 (1) (see all 32)
gamma-carboxyglutamic acid	76.99	103	1699555 (5), 10094467 (4), 2277030 (4), 16413375 (4) (see all 36)
s-warfarin	75.25	18	10702890 (2), 17192504 (2), 9839766 (2), 15632222 (1) (see all 14)
r-warfarin	71.19	4	8838180 (1), 18211619 (1), 9545160 (1), 16890578 (1)
phospholipid	69.02	210	8180383 (5), 8943852 (5), 10552952 (4), 9217175 (4) (see all 99)
monoethylglycinexylidide	67.69	24	9253568 (2), 10219840 (2), 9346796 (1), 1959850 (1) (see all 18)
bothrojaracin	63.41	36	11514680 (8), 11051105 (8), 11910195 (5), 11858489 (4) (see all 6)
vitamin k epoxide	62.89	4	17101711 (1), 17994314 (1), 16506805 (1), 17112295 (1)

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3 PharmGKB drug compound relationships for F2 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
estrogens	CO	11180734
norethindrone	CO PD	9632445
oral contraceptives	CO GN	10073976

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (F2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (F2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000506

Sigma-Aldrich siRNA and siRNA Panels for F2

Sigma-Aldrich shRNA Panels and shRNA for F2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000506

REFSEQ mRNAs for F2 gene:

NM_000506.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000506

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000506
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000506
                                 untagged cDNA clone in CMV expression vector: NM_000506

Additional cDNA sequence:

AJ972449.1 AK222775.1 AK222777.1 AK293326.1 AK303747.1 AK312965.1 AY344793.1 AY344794.1

BC051332.1 CR594467.1 CR617821.1 M33031.1 V00595.1

4 DOTS entries:

DT.115445 DT.40132890 DT.100834099 DT.95360807

24/89 AceView cDNA sequences (see all 89 ):

BC051332 CR617821 T55195 CR594467 CB156997 AV661218 CB148992 CB124824

BQ653592 CB111898 R90940 C21032 CB147238 BX426923 CB115393 AI040701

AL532541 AY344793 T62075 AW303323 NM_000506 CB115397 T28286 T70932

highest scoring ESTs for F2:

AI190203 AI302535 AL532541 AL563921 AV656308 AV661218 AW303323 BC051332 BQ651302 BX426922

Unigene Cluster for F2:

Coagulation factor II (thrombin)

Hs.655207 [show with all ESTs]

Unigene Representative Sequence: NM_000506

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for F2

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12	^	13	^	14	^	15
SP1:					-				-
SP2:									-
SP3:					-
SP4:

About this scheme

ECgene alternative splicing isoforms for F2

1 Ensembl transcript including schematic representation:

ENST00000311907

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

F2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for F2

¹ / ² / ³

3 probe-sets matching F2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37202_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	J00307	0.40	1.00	0.76	1
205754_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000506	0.60	1.00	0.82	1
205754_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks F2 for binary patterns associated with the probe-sets selected above

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About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGTTCCGCCT

SOURCE GeneReport for Unigene cluster: Hs.655207
Expression variation in blood from EXPOLDB for F2
UniProtKB/Swiss-Prot: THRB_HUMAN, P00734
Tissue specificity: Expressed by the liver and secreted in plasma

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for F2 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	F2¹	--	coagulation factor II (thrombin)	99.14(n) 99.36(a)	451158 XM_001165233.1 XP_001165233.1
cow (Bos taurus)	F2¹	--	coagulation factor II (thrombin)	83.41(n) 81.8(a)	280685 NM_173877.1 NP_776302.1
rat (Rattus norvegicus)	F2¹	--	coagulation factor II (thrombin)	81.51(n) 80.75(a)	29251 NM_022924.1 NP_075213.1
mouse (Mus musculus)	F2^{1, 5}	2 (47.50 cM)⁵	coagulation factor II^{1, 5}	82.47(n)¹ 81.98(a)¹	14061¹ NM_010168.2¹ NP_034298.1¹ AK050056⁵ AK149367⁵ (see all 10)
chicken (Gallus gallus)	F2¹	--	coagulation factor II (thrombin)	65.4(n) 63.04(a)	395306 NM_204605.1 NP_989936.1

About this table Species with no ortholog for F2

ENSEMBL Gene Tree for F2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for F2 gene

PROZ² HPR² PROC²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/162 NCBI SNPs in F2 are shown (see all 162 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 59)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs5896^1,2	C,F,H,O	46701579(+)	`CACCAC/TGGGAC`	1	T/M	mis¹ ese³		15	MN NS EU EA WA NA	1380
	rs3136519^1,2	C,F,H	46718081(+)	`GAGGAC/TGGTGC`	1	--	ng3¹		13	NS EU EA WA NA	1058
	rs3136430^1,2	F,H	46696324(+)	`CACTCC/TCTGTT`	1	--	ng5¹		6	NS EU EA WA	506
--	rs3136518^1,2	C	46717825(+)	`CAGCCT/GGGGTG`	1	--	ng3¹		2	NS	86
	rs4752930^1,2	H	46696740(+)	`AGAAAT/GGGGCC`	1	--	ng5¹		4	EU EA WA	416
	rs3136517^1,2	H	46717722(+)	`AATCCA/GCCACC`	1	--	ng3¹		6	NS EU EA WA	504
	rs5897^1,2	H	46706147(+)	`AGAGTC/ACCCAG`	1	T/P	mis¹ ese³		6	MN EU EA WA	730
	rs5898^1,2	C,F,H,O	46706224(+)	`TACCCG/ACCCTG`	1	P/P	syn¹ ese³		11	MN NS NA EU EA WA	960
--	rs3136452^1,2	A,C,F,H	46701565(+)	`AACCCC/TGACAG`	1	P/P	syn¹ ese³		10	NS MN EU EA WA NA	830
	rs3136532^1,2	F,H	46717489(+)	`TTCCGC/TCTGAA`	1	R/R	syn¹ ese³		6	NS EU EA WA	506

About this table

HapMap Linkage Disequilibrium images for F2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 176930

UniProtKB/Swiss-Prot: THRB_HUMAN, P00734

Defects in F2 are the cause of various forms of dysprothrombinemia [MIM:176930]

Genetic variations in F2 may be a cause of susceptibility to ischemic stroke [MIM:601367];

also known as cerebrovascular accident or cerebral infarction. 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

10/98 Novoseek disease relationships for F2 gene (see all 98 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
prothrombin increased	92.81	95	11700191 (2), 7703488 (2), 1331349 (1), 8826562 (1) (see all 82)
coagulopathy	89.51	103	8192064 (2), 17160994 (2), 19444412 (2), 1550472 (1) (see all 99)
hypoprothrombinemias	87.79	79	9863703 (4), 14629473 (4), 11241228 (3), 14575584 (3) (see all 43)
thrombophilia	87.03	86	9219324 (2), 16256098 (2), 8171409 (1), 9238178 (1) (see all 76)
bleeding	84.96	502	8402023 (3), 2383699 (3), 8259040 (3), 19444412 (3) (see all 99)
thrombosis	83.87	123	10744139 (4), 10974339 (2), 16231514 (2), 8339409 (2) (see all 99)
disseminated intravascular coagulation	81.75	27	16828603 (2), 11985056 (2), 10410587 (1), 12227006 (1) (see all 25)
dysprothrombinemia	80.84	5	1334372 (2), 11341500 (1), 15039280 (1), 9490687 (1)
venous thrombosis	80.20	86	8339409 (3), 17059428 (3), 9364981 (3), 12871361 (2) (see all 69)
apc resistance	80.14	52	16493484 (6), 11583311 (2), 11012376 (1), 11816542 (1) (see all 37)

About this table

3 PharmGKB disease relationships for F2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Myocardial Infarction	CO	11180734
cerebral vein thrombosis	CO PD	9632445
venous thromboembolism	CO GN	10073976

About this table

GeneTests: F2

Prothrombin Thrombophilia

Human Gene Mutation Database: F2
Genetic Association Database: F2
Human Genome Epidemiology Navigator: F2 (532 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/3267 PubMed articles for F2 gene (see all 3267 ):

Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)^{3, 4, 6} Casas J.P.... Sharma P. (2004)
A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations. (PubMed id 16006096)^{1, 3, 6} Hobson-Peters J. and Toye P. (2005)
[Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome] (PubMed id 16320685)^{1, 3, 6} Kalashnikova L.A....Nasonov E.L. (2005)
[Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flow velocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase] (PubMed id 15531855)^{1, 3, 6} Driul L....Marchesoni D. (2004)
Pregnancy-associated venous thromboembolism (VTE) in combined heterozygous factor V Leiden (FVL) and prothrombin (FII) 20210 A mutation and in heterozygous FII single gene mutation alone. (PubMed id 14531916)^{1, 3, 6} Samama M.M....Conard J. (2003)
The platelet glycoprotein Ia/IIa gene polymorphism C807T/G873A: a novel risk factor for retinal vein occlusion. (PubMed id 12928694)^{1, 3, 6} Dodson P.M....Fegan C. (2003)
Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity. (PubMed id 1354985)^{1, 3, 4} Miyata T....Iwanaga S. (1992)
Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems. (PubMed id 16155788)^{1, 3, 6} Lichy C....Grau A. (2006)
A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis. (PubMed id 16082606)^{1, 3, 6} Almawi W.Y....Irani-Hakime N. (2005)
The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia. (PubMed id 15842353)^{1, 3, 6} Gerhardt A....Zotz R.B. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 2147	HGNC: 3535	AceView: F2	Ensembl:ENSG00000180210	euGenes: HUgn2147
ECgene: F2	H-InvDB: F2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for F2	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Thrombin
GeneReviews	http://www.genetests.org/query?gene=F2
SeattleSNPs	http://pga.gs.washington.edu/data/f2/

Licensable Technologies for F2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for F2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for F2-related products

	Millipore Custom Antibody & Bulk Services
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F2 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for F2

Summaries
for F2

Genomic Location
for F2

Proteins
for F2

Protein Domains/
Families
for F2

Gene Function
for F2

Pathways & Interactions
for F2

Drugs & Compounds
for F2

Transcripts
for F2

Expression
for F2

Orthologs
for F2

Paralogs
for F2

SNPs/Variants
for F2

Disorders & Mutations
for F2

Medical News
for F2

Publications
for F2

Search for F2

Genome Databases showing F2

Other Databases showing F2

Specialized Databases showing F2

Licensable Technologies
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for F2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

F2 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor F2

Summariesfor F2

Genomic Locationfor F2

Proteinsfor F2

Protein Domains/Familiesfor F2

Gene Functionfor F2

Pathways & Interactionsfor F2

Drugs & Compoundsfor F2

Transcriptsfor F2

Expression for F2

Orthologsfor F2

Paralogsfor F2

SNPs/Variantsfor F2

Disorders & Mutationsfor F2

Medical Newsfor F2

Publicationsfor F2

Search for F2

Genome Databases showing F2

Other Databases showing F2

Specialized Databases showing F2

Licensable Technologiesfor F2

Servicesfor F2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for F2

Summaries
for F2

Genomic Location
for F2

Proteins
for F2

Protein Domains/
Families
for F2

Gene Function
for F2

Pathways & Interactions
for F2

Drugs & Compounds
for F2

Transcripts
for F2

Expression
for F2

Orthologs
for F2

Paralogs
for F2

SNPs/Variants
for F2

Disorders & Mutations
for F2

Medical News
for F2

Publications
for F2

Licensable Technologies
for F2

Services
for F2