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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

F5 Gene

protein-coding GIFtS: 66
GCID: GC01M169481

coagulation factor V (proaccelerin, labile factor)

Explore 287 diseases affiliated with
F5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Coagulation Factor V (Proaccelerin, Labile Factor)¹ ²		RPRGL1²
Activated Protein C Cofactor² ³		THPH2²
Proaccelerin, Labile Factor² ³		Coagulation Factor V²
FVL²		Coagulation Factor V Jinjiang A2 Domain²
PCCF²		Factor V Leiden²

External Ids:	HGNC: 3542¹	Entrez Gene: 2153²	Ensembl: ENSG00000198734⁷	OMIM: 612309⁵	UniProtKB: P12259³

Export aliases for F5 gene to outside databases

Previous GC identifers: GC01M167112 GC01M165134 GC01M166179 GC01M166670 GC01M166215 GC01M167750 GC01M140703

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

Entrez Gene summary for F5:

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is

converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a

heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that

participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in

either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as

activated protein C resistance. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: FA5_HUMAN, P12259

Function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor

Xa that results in the activation of prothrombin to thrombin

Gene Wiki entry for F5 (Factor V)

PharmGKB "VIP" summary for F5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F5 gene promoter:
STAT5B TBP NF-1 NF-1/L C/EBPbeta PPAR-gamma1 IRF-7A Sox9 PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: F5 promoter sequence

Search SABiosciences Chromatin IP Primers for F5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23 Ensembl cytogenetic band: 1q24.2 HGNC cytogenetic band: 1q23

F5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F5 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M169481: view genomic region (about GC identifiers)

Start:	169,481,192 bp from pter	End:	169,555,826 bp from pter
Size:	74,635 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FA5_HUMAN, P12259 (See protein sequence)

Recommended Name: Coagulation factor V precursor

Size: 2224 amino acids; 251703 Da

Subunit: Factor Va, the activated form of factor V, is composed of a heavy chain and a light chain, non-covalently

bound. The interaction between the two chains is calcium-dependent. Forms heterodimer with SERPINA5

Subcellular location: Secreted (By similarity)

Sequence caution: Sequence=ABD23003.1; Type=Erroneous gene model prediction; Sequence=CAI23065.1; Type=Erroneous gene

model prediction;

6/8 PDB 3D structures from and Proteopedia for F5 (see all 8):

1CZS (3D)

1CZT (3D)

1CZV (3D)

1FV4 (3D)

1Y61 (3D)

3P6Z (3D)

Secondary accessions: A8K6E8 Q14285 Q2EHR5 Q5R346 Q5R347 Q6UPU6 Q8WWQ6

Explore the universe of human proteins at neXtProt for F5: NX_P12259

Post-translational modifications:

Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the

N-terminus and a light chain at the C-terminus)¹

Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity¹

Activated protein C inactivates factor V and factor Va by proteolytic degradation¹

Phosphorylation sites are present in the extracellular medium¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P12259

F5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000121.2

ENSEMBL proteins:

ENSP00000356771 ENSP00000356770 ENSP00000439664

Reactome Protein details: P12259
Human Recombinant Protein Products for F5:

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	Uscn Proteins for F5

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0031091	platelet alpha granule	--	--
GO:0031093	platelet alpha granule lumen	TAS	--

F5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for F5

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

F5 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR024715 Factor_5/8

IPR011707 Cu-oxidase_3

IPR008979 Galactose-bd-like

IPR008972 Cupredoxin

IPR002355 Cu_oxidase_Cu_BS

Graphical View of Domain Structure for InterPro Entry P12259

ProtoNet protein and cluster: P12259

1 Blocks protein family: IPB000421 Coagulation factor 5/8 type C domain (FA58C)

UniProtKB/Swiss-Prot: FA5_HUMAN, P12259

Domain: Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats

Similarity: Belongs to the multicopper oxidase family

Similarity: Contains 3 F5/8 type A domains

Similarity: Contains 2 F5/8 type C domains

Similarity: Contains 6 plastocyanin-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FA5_HUMAN, P12259

Function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor

Xa that results in the activation of prothrombin to thrombin

Enzyme regulation: Inhibited by SERPINA5

Genatlas biochemistry entry for F5:

coagulation factor V (proaccelerin,labile factor),cofactor in the activation of prothrombin (F2) by activated

F10,colocalized and complexed with merin multimerin in platelets alpha-granules

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005507	copper ion binding	IEA	--
GO:0005515	protein binding	IPI	9556620

F5 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for F5):

behavior/neurological	cardiovascular system	embryogenesis	growth/size	homeostasis/metabolism
integument	liver/biliary system	mortality/aging	nervous system

F5 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out F5^tm1Dgi for F5

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for F5

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		hsa-miR-2052 hsa-miR-607 hsa-miR-4272 hsa-miR-522 hsa-miR-578 hsa-miR-29b-1* hsa-miR-3143 hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: F5 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Formation of Fibrin Clot (Clotting Cascade)

	Formation of Fibrin Clot (Clotting Cascade)	1.00			Blood Clotting Cascade	0.36
	Blood Coagulation Signaling Pathways	0.51

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Common Pathway

Common Pathway

1.00

Extrinsic Prothrombin Activation Pathway

0.69

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for F5

Blood Coagulation Signaling Pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F5

	Extrinsic Prothrombin Activation Pathway
	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

2 BioSystems Pathways for F5

	Blood Clotting Cascade
	Complement and Coagulation Cascades

5/6 Reactome Pathways for F5 (see all 6)

	Hemostasis
	Formation of Fibrin Clot (Clotting Cascade)
	Platelet degranulation
	Platelet activation, signaling and aggregation
	Response to elevated platelet cytosolic Ca2+

1 Kegg Pathway (Kegg details for F5):

Complement and coagulation cascades

F5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for F5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/53 Interacting proteins for F5 (P12259³ ENSP00000356771⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALR	P27797³, ENSP00000320866⁴	I2D: score=2 STRING: ENSP00000320866
F2	P00734³, ENSP00000308541⁴	I2D: score=2 STRING: ENSP00000308541
MMRN1	Q13201³, ENSP00000264790⁴	I2D: score=1 STRING: ENSP00000264790
PROC	P04070³, ENSP00000234071⁴	I2D: score=1 STRING: ENSP00000234071
PROS1	P07225³, ENSP00000377783⁴	I2D: score=2 STRING: ENSP00000377783

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0007155	cell adhesion	IEA	--
GO:0007596	blood coagulation	TAS	--
GO:0008015	blood circulation	IEA	--
GO:0030168	platelet activation	TAS	--

F5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

F5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for F5

2 HMDB Compounds for F5 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Copper	Cu (see all 2)	7440-50-8	--

2 DrugBank Compounds for F5 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Drotrecogin alfa	Anticoagulant protein C (see all 4)	60202-16-6	target	multitarget	11752352 12004250 11893230 12030642 11236773 11714212
Phenylmercury	--	--	target	--	17139284 17016423

10/134 Novoseek chemical compound relationships for F5 gene (see all 134) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xigris	86.6	29	12296618 (2), 16923083 (2), 11811722 (1), 15232511 (1) (see all 26)
fibrinogen	82.2	352	9081677 (5), 15217806 (4), 10831587 (3), 15306149 (3) (see all 99)
heparin	75.9	153	9169495 (8), 16775572 (3), 10595639 (3), 1315738 (3) (see all 99)
homocysteine	73.8	140	11083858 (5), 15175797 (3), 2154269 (2), 10847236 (2) (see all 99)
desogestrel	70.3	17	11859850 (5), 11257242 (3), 10928461 (2), 7500751 (1) (see all 8)
gamma-carboxyglutamic acid	68.7	13	1498334 (2), 1905953 (1), 8180219 (1), 7999756 (1) (see all 8)
gestodene	65.4	1	11102598 (1)
hirudin	60.9	26	1590777 (2), 2168225 (1), 7679452 (1), 10358710 (1) (see all 22)
warfarin	60.3	26	16889993 (2), 9471929 (1), 19190829 (1), 8701423 (1) (see all 21)
phospholipid	60.2	67	8456424 (4), 8206891 (2), 1412190 (2), 9731110 (2) (see all 49)

3 PharmGKB related drug/compound annotations for F5 gene About this table

Drug/compound	PharmGKB Annotation
eltrombopag	DL
hormonal contraceptives for systemic use	DG
tamoxifen	DL

Search CenterWatch for drugs/clinical trials and news about F5 / FA5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for F5 gene:

NM_000130.4

Unigene Cluster for F5:

Coagulation factor V (proaccelerin, labile factor)

Hs.30054 [show with all ESTs]

Unigene Representative Sequence: NM_000130

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000367797(uc001ggg.1 uc010plr.1) ENST00000367796 ENST00000495481

ENST00000546081

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		SwitchGear 3'UTR luciferase reporter plasmid: F5 3' UTR sequence

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Additional cDNA sequence:

AJ297254.1 AJ297255.1 AK226079.1 AK291613.1 AK300469.1 M14335.1 M16967.1 M94010.1

4 DOTS entries:

DT.455722 DT.100780251 DT.92428603 DT.95293061

24/135 AceView cDNA sequences (see all 135):

AW291519 H70968 AI796803 AI306468 BE219652 T28497 AV650215 AU279657

AL552613 AW294101 CA390389 BP366398 AA344458 CR626632 CA395167 AV650378

CA395604 AW294470 AV654769 CB162253 AI692757 CA393309 AI740541 BX495750

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

F5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATCAAAGT

About this image

F5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See F5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F5

SOURCE GeneReport for Unigene cluster: Hs.30054

UniProtKB/Swiss-Prot: FA5_HUMAN, P12259

Tissue specificity: Plasma

SABiosciences Custom PCR Arrays for F5

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for F5 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F5¹	coagulation factor V (proaccelerin, labile factor)	63.69(n) 56.53(a)		374052 XM_001231900.2 XP_001231901.2
lizard (Anolis carolinensis)	Reptilia	F5⁶	--	41(a)	1 ↔ 1	3(175705231-175761018)
zebrafish (Danio rerio)	Actinopterygii	f5¹	coagulation factor V	56.23(n) 49.63(a)		327320 NM_001007208.2 NP_001007209.2

ENSEMBL Gene Tree for F5 (if available)
TreeFam Gene Tree for F5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for F5 gene

HEPHL1² CP² F8² HEPH²

9 SIMAP similar genes for F5 using alignment to 6 protein entries: FA5_HUMAN (see all proteins):

F8 F8C RS1 MFGE8 F8c SPAG10

EDIL3 HEPH CP

F5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118203905^1,2	C	pathogenic	213463280(-)	`AAACCA/GGGAAT`	2	R G	mis¹		0	--	--	--	--
rs118203906^1,2	C	pathogenic	213463281(-)	`AACCAG/CGAATC`	2	/T /R	mis¹		1		NA	4550
rs118203907^1,2	C	pathogenic	213487770(-)	`GGCCTA/GCTACT`	2	Y C	mis¹		1		EU	1323
rs75764442^1,2	C,F	--	140704752(+)	`CTCCCA/GGTGAA`	1	--	ut3¹		1		WA	118
rs9332677^1,2	C	--	140704950(-)	`ACTGGG/ATAAAT`	1	--	ut3¹		3		NS NA	210
rs9332675^1,2	C,F	--	140705122(-)	`AACGTG/ATACAT`	1	--	ut3¹		3		NS WA	212
rs9332674^1,2	C	--	140705349(-)	`CAGCAA/GCTTCC`	1	--	ut3¹		2		NS	86
rs75302539^1,2		--	140705759(+)	`GGGAAA/GGACAG`	1	--	ut3¹		0	--	--	--	--
rs72708017^1,2	C,F	--	140705764(+)	`AGACAG/AGATAT`	1	--	ut3¹		2		WA NA	238
rs76510731^1,2	F	--	140705864(+)	`GTCTAT/ACAATT`	1	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for F5 (169481192 - 169555826 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for F5
1 CNV: 65206
1 Indel: 97549
Human Gene Mutation Database (HGMD): F5

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing F5

DNA2.0 Custom Variant and Variant Library Synthesis for F5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

F5 for disorders           About GeneDecksing

OMIM gene information: 612309
OMIM disorders: 227400  188055  601367  600880
UniProtKB/Swiss-Prot: FA5_HUMAN, P12259

Defects in F5 are the cause of factor V deficiency (FA5D) [MIM:227400]; also known as Owren parahemophilia. It

is a hemorrhagic diastesis

Defects in F5 are the cause of thrombophilia due to activated protein C resistance (THPH2) [MIM:188055]. THPH2

is a hemostatic disorder due to defective degradation of factor Va by activated protein C. It is characterized by a

poor anticoagulant response to activated protein C resulting in tendency to thrombosis

Defects in F5 are a cause of susceptibility to Budd-Chiari syndrome (BDCHS) [MIM:600880]. A syndrome caused by

obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena

cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical

manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal

ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative

syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari

syndrome is a rare but typical complication in patients with polycythemia vera

Defects in F5 may be a cause of susceptibility to ischemic stroke (ISCHSTR) [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

Defects in F5 are associated with susceptibility to pregnancy loss, recurrent, type 1 (RPRGL1) [MIM:614389].

RPRGL1 is 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

20/287 diseases for F5 (see all 287): About MalaCards

thrombophilia vitamin k-dependent clotting factors legg-calve-perthes disease factor v leiden thrombophilia

carotid intimal medial thickness retinal vein occlusion factor xiii deficiency central retinal vein occlusion

sagittal sinus thrombosis combined factor v and viii deficiency factor xi deficiency disseminated intravascular coagulation

factor xii deficiency antithrombin iii deficiency quebec platelet disorder factor v and factor viii

severe pre-eclampsia factor vii deficiency heparin-induced thrombocytopenia deep vein thrombosis

20/21 diseases from the University of Copenhagen DISEASES database for F5 (see all 21):

Thrombophilia Factor V deficiency Protein C deficiency Pulmonary embolism

Hyperhomocysteinemia Blood protein disease Placental abruption Antiphospholipid syndrome

Antithrombin III deficiency Cerebrovascular accident Factor VIII deficiency Hypertension

Central retinal vein occlusion Myocardial infarction Liver disease Patent foramen ovale

Retinal vein occlusion Thrombocytopenia Intracranial thrombosis Lupus erythematosus

10/97 Novoseek disease relationships for F5 gene (see all 97) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
apc resistance	98.6	1994	10499894 (12), 9156566 (9), 10871461 (9), 9240602 (7) (see all 99)
thrombophilia	96.8	660	9820002 (3), 9350176 (3), 9577282 (3), 16256098 (3) (see all 99)
venous thrombosis	93.3	735	9471929 (7), 10477778 (6), 16758522 (6), 17200768 (6) (see all 99)
protein s deficiency	93.1	178	15706484 (3), 9746774 (3), 9241737 (2), 9607123 (2) (see all 99)
thrombosis	91.8	797	12180730 (6), 8592550 (5), 8774498 (4), 9922996 (4) (see all 99)
thromboembolism	91.6	515	9092318 (8), 12468175 (6), 10215560 (6), 11734673 (5) (see all 99)
protein c deficiency	90.8	140	7562967 (5), 9128811 (3), 8943855 (3), 14707707 (2) (see all 99)
antithrombin iii deficiency	86.2	53	17710975 (2), 12192310 (1), 15919499 (1), 18685442 (1) (see all 44)
f5f8d	85.3	24	18056485 (2), 12717434 (2), 18590741 (1), 17287640 (1) (see all 21)
coagulopathy	84.8	131	8429648 (3), 9531249 (3), 11700394 (2), 10229050 (2) (see all 99)

Genatlas disease: F5

parahemophilia

GeneTests: F5

Factor V Leiden Thrombophilia

Genetic Association Database (GAD): F5
Human Genome Epidemiology (HuGE) Navigator: F5 (908 documents)

Export disorders for F5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for F5 gene, integrated from 9 sources (see all 3583):
(articles sorted by number of sources associating them with F5)

Utopia: connect your pdf to the dynamic
world of online information

Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)^{1, 2, 4} Casas J.P.... Sharma P. (2004)
Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. (PubMed id 8713778)^{1, 2, 4} Lunghi B....Bernardi F. (1996)
Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. (PubMed id 8204629)^{1, 2, 9} Pittman D.D....Kaufman R.J. (1994)
[Effects of factor V Leiden mutations on prognosis in patients with acute myocardial infarction] (PubMed id 12101832)^{1, 4, 9} Baykan M....Erdol C. (2001)
[Activated protein C resistance and deep venous thrombosis in pregnancy] (PubMed id 12434659)^{1, 4, 9} Prochazka M....Slavik L. (2002)
A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations. (PubMed id 16006096)^{1, 4, 9} 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, 4, 9} Kalashnikova L.A....Nasonov E.L. (2005)
[Prothrombotic factors in stroke] (PubMed id 15088159)^{1, 4, 9} Meseguer E....Garcia de Yebenes J. (2004)
-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications. (PubMed id 15091001)^{1, 4, 9} Camilleri R.S....Cohen H. (2004)
[Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia] (PubMed id 12879654)^{1, 4, 9} Prochazka M....Slavik L. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2153	HGNC: 3542	AceView: F5	Ensembl:ENSG00000198734	euGenes: HUgn2153
ECgene: F5	Kegg: 2153	H-InvDB: F5

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for F5	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Factor_V
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F5
SeattleSNPs	http://pga.gs.washington.edu/data/f5/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F5

Intellectual Property for F5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for F5 gene:
Search GeneIP for patents involving F5

GeneCards and IP:
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F5 Gene

coagulation factor V (proaccelerin, labile factor)

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PT PROLONGED
Pregnancy loss
Leg Ulcer
Hemorrhagic diseases
Genetic Susceptibility
sepsis
SCOTT SYNDROME
coagulopathy
F5F8D
Factor VII Deficiency
Antithrombin III Deficiency
Respiratory Distress Syndrome
NAION
Factor V Leiden Thrombophilia
Antiphospholipid Syndrome
Deep vein thrombosis
PULMONARY THROMBOSIS
Retinal Vein Occlusion
Factor XIII Deficiency
Protein Deficiency
Thrombocytopenia
Coagulation Factor Deficiency
Cerebral Thrombosis
Miscarriage
SKIN NECROSIS
Perthes Disease
Cerebral Infarction
Bowel infarction
ARTERIAL THROMBOSIS
Liver Failure
Protein C Deficiency
Factor XII Deficiency
Inflammation
Hyperhomocysteinemia
Thrombosis Retinal Vein
RENAL VEIN THROMBOSIS
Superficial thrombophlebitis
Severe pre-eclampsia
HELLP Syndrome
Thrombosis
Meningococcemia
CEREBRAL VENOUS THROMBOSIS
Hepatic Failure Fulminant
Sinus Thrombosis
Preeclampsia
Disseminated Intravascular Coagulation
Retinal vascular occlusion
Shock Septic
Budd-Chiari Syndrome
Foramen Ovale Patent
APC Resistance
Critically Ill
Venous Thrombosis
Placental infarction
Systemic Inflammatory Response Syndrome
Abruptio Placentae
INFARCT
Factor X Deficiency
QUEBEC PLATELET DISORDER
Intrauterine death
Obstetrical Complication
hereditary protein C deficiency
Purpura Fulminans
Miscarriage Recurrent
VENOUS OCCLUSION
VEIN THROMBOSIS MESENTERIC
Ovarian Hyperstimulation Syndrome
HOMOCYSTEINEMIA
BLEEDING TENDENCY
Dysfibrinogenemia
Factor XI Deficiency
Intrauterine Growth Retardation
Inherited Coagulation Disorders
Myocardial Infarction
Inflammatory Bowel Diseases
Multiple Organ Failure
Hypoprothrombinemias
Portal vein thrombosis
von Willebrand Disease
Protein S Deficiency
Stillbirth
Hemophilia A
Bleeding
Thromboembolism Pulmonary
BEHCET DISEASE
Homocystinuria
Afibrinogenemia
Acute respiratory distress
STROKE
Thrombophilia
Vascular Diseases
HYPERCORTISONISM
Central retinal vein occlusion
Pulmonary Embolism
Sagittal Sinus Thrombosis
Postphlebitic Syndrome
Pregnancy Complications
Thromboembolism

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F5 Gene

coagulation factor V (proaccelerin, labile factor)

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