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VWF Gene

protein-coding GIFtS: 72

GC12M005917

von Willebrand factor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: F8VWF)

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

Aliases
F8 ^⁵
F8VWF ^², ³
VWD ^²
vWF ^³

Descriptions
coagulation factor VIII VWF ^²
von Willebrand factor ^²

External Ids
HGNC: 12726¹
Entrez Gene: 7450²
UniProtKB: P04275³
Ensembl: ENSG00000110799⁷

Search outside databases for aliases for VWF gene

Previous GC identifers: GC12M005930 GC12M005928

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

EntrezGene summary for VWF:

The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a

platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis

process. Mutations in this gene or deficiencies in this protein result in von Willebrand's

disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq]

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the

sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and

platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII,

delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it

from premature clearance from plasma

Gene Wiki entry for VWF (Von_Willebrand_factor)

(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 VWF gene

Entrez Gene cytogenetic band: 12p13.3 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13.3

VWF 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 12 GeneLoc Exon Structure

GeneLoc location for GC12M005917: (about GC identifiers)

Start:	5,928,301 bp from pter
End:	6,104,097 bp from pter
Size:	175,797 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000012.10 NT_009759.15

(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: VWF_HUMAN, P04275 (See protein sequence)

Recommended Name: von Willebrand factor precursor

Size: 2813 amino acids; 309299 Da

Subunit: Multimeric. Interacts with F8

Subcellular location: Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized

to storage granules

PDB structures from and Proteopedia :

1AO3 (3D)

1ATZ (3D)

1AUQ (3D)

1FE8 (3D)

1FNS (3D)

1IJB (3D)

1IJK (3D)

1M10 (3D)

1OAK (3D)

1SQ0 (3D)

1U0N (3D)

1UEX (3D)

2ADF (3D)

3GXB (3D)

Secondary accessions: Q99806

Post-translational modifications:

All cysteine residues are involved in intrachain or interchain disulfide bonds¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000543.2

ENSEMBL proteins:

ENSP00000316900 ENSP00000261405

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Von Willebrand Factor)
	Human Recombinant Proteins from Abnova (VWF)

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

5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005634	nucleus	IDA	18029348
GO:0005730	NOT nucleolus	IDA	18029348
GO:0005737	cytoplasm	IDA	18029348

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Antibodies for VWF:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of VWF
	Sigma-Aldrich Antibodies for VWF
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Von Willebrand Factor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (VWF)
	Novus Biologicals Antibodies for VWF

Assays for VWF:

	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)
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Graphical View of Domain Structure for InterPro Entry P04275

ProtoNet protein and cluster: P04275

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

IPB001007 von Willebrand factor

IPB001839 Transforming growth factor beta (TGFb)

IPB001846 Von Willebrand factor

IPB002035 Von Willebrand factor type A domain signature

IPB002919 Trypsin inhibitor-like

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Domain: The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting

to storage granules

Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain

Similarity: Contains 4 TIL (trypsin inhibitory-like) domains

Similarity: Contains 3 VWFA domains

Similarity: Contains 3 VWFC domains

Similarity: Contains 4 VWFD domains

(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 (VWF)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (VWF)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000552

Applied Biosystems Silencer® siRNAs for VWF

Sigma-Aldrich siRNA and siRNA Panels for VWF

Sigma-Aldrich shRNA Panels and shRNA for VWF

Explore Sigma-Aldrich super-pooled esiRNAs

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

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000552
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000552
untagged cDNA clone in CMV expression vector: NM_000552

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000552

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the

sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and

platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII,

delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it

from premature clearance from plasma

Genatlas biochemistry entry for VWF:

coagulation factor VIII (von Willebrand factor),expressed in endothelial megakaryocytes,stored in

platelets alpha-granules and within the Weibel-Palade bodies of epitheliall cells and released

into the plasma forming disulfide-linked multimeric structure,assembled from dimers

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Vwf):

digestive/alimentary

hematopoietic system

homeostasis/metabolism

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IDA	16409464
GO:0002020	protease binding	IPI	12775718
GO:0005178	integrin binding	IPI	9079671
GO:0005518	collagen binding	IDA	2056120
GO:0019865	immunoglobulin binding	IDA	3121636

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

2 Sigma-Aldrich "Your Favorite Gene" Pathways for VWF (Your Favorite Gene powered by Ingenuity)

Coagulation System
Acute Phase Response Signaling

GeneDecks VWF for the pathways selected above

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

5/168 Interacting proteins for VWF (ENSP00000261405³ P04275^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 168 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ADAMTS13	Q76LX8¹	STRING (score=.999) EBI-981819, EBI-981764
GP1BA	P07359¹^,²	STRING (score=.999) EBI-981819, EBI-297082 MINT-17868 MINT-24838 EBI-981819, EBI-297082 MINT-17868 MINT-24838
GP1BA	P07359¹^,²	STRING (score=.999) EBI-981819, EBI-297082 MINT-17868 MINT-24838 EBI-981819, EBI-297082 MINT-17868 MINT-24838
ZNF512B	Q96KM6²	MINT-60830
F8	ENSP00000327895³	STRING (score=.999)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0001890	placenta development	IEA	--
GO:0009611	response to wounding	TAS	15029268
GO:0030168	platelet activation	NAS	12871509
GO:0031589	cell-substrate adhesion	IDA	9079671

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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

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for VWF
10/37 Novoseek chemical compound relationships for VWF gene (see all 37 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	87.00	900	17650077 (9), 17622488 (7), 15745313 (7), 9416937 (6) (see all 99)
crotalin	72.72	3	9473223 (2)
calin	66.71	5	9490916 (1), 9164855 (1), 7833474 (1), 10494781 (1)
aurintricarboxylic acid	66.63	39	1287886 (4), 18957047 (2), 7749846 (1), 9459348 (1) (see all 16)
adp	65.04	97	2154674 (3), 2401846 (3), 8051492 (3), 2346725 (2) (see all 52)
echicetin	53.50	8	10194440 (4), 8481512 (3)
dendroaspin	46.21	3	7529494 (2), 7505120 (1)
albolabrin	43.51	3	7529494 (2), 7505120 (1)
homocysteine	42.60	50	11093443 (4), 11673296 (4), 18394873 (3), 9812085 (2) (see all 31)
thromboxane a2	38.62	16	16706984 (2), 12764908 (1), 14734152 (1), 17100655 (1) (see all 8)

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1 PharmGKB drug compound relationship for VWF gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
heparin	CO	12724616

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 (VWF)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (VWF)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000552

Sigma-Aldrich siRNA and siRNA Panels for VWF

Sigma-Aldrich shRNA Panels and shRNA for VWF

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000552

REFSEQ mRNAs for VWF gene:

NM_000552.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000552

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000552
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000552
                                 untagged cDNA clone in CMV expression vector: NM_000552

Additional cDNA sequence:

AF086470.1 AK128487.1 AK292122.1 AK297600.1 AK298097.1 AK301216.1 BC022258.1 BC069030.1

K03028.1 M10321.1 M17588.1 U81237.1 X02672.1 X04146.1 X04385.1

22 DOTS entries:

DT.91762387 DT.95170468 DT.121129090 DT.121129141 DT.100788530 DT.121129143 DT.100788527 DT.121129166

DT.40121611 DT.97790477 DT.97846422 DT.121129157 DT.95170466 DT.99966582 DT.429976 DT.91713897

DT.91762385 DT.95170467 DT.95292632 DT.75146000 DT.91762382 DT.121129186

24/349 AceView cDNA sequences (see all 349 ):

AA683280 AI131038 BQ004477 BQ003750 CB266691 BC069030 BQ024352 CA427853

CB266865 BQ722193 M17588 BP339501 X02672 BM699079 AW516991 BQ882131

AL047255 BU077753 AU141516 AL549326 AA457534 BQ898017 CA393649 BM978014

highest scoring ESTs for VWF:

BG537426 M10321 M17588 T90707 BC022258 X04146 X04385 AA010711 AA010712 AA082107

Unigene Cluster for VWF:

Von Willebrand factor

Hs.440848 [show with all ESTs]

Unigene Representative Sequence: NM_000552

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for VWF (see all 6 )

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^
SP1:							-		-										-
SP2:
SP3:
SP4:
SP5:

ExUns:	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38a	·	38b	^	39a	·	39b	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47a	·
SP1:																																			-																-
SP2:
SP3:
SP4:
SP5:

ExUns:	47b	^	48	^	49a	·	49b	^	50a	·	50b	^	51	^	52	^	53
SP1:					-						-
SP2:
SP3:					-
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for VWF

2 Ensembl transcripts including schematic representations:

ENST00000321023 ENST00000261405

(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

VWF expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for VWF

¹ / ² / ³

6 probe-sets matching VWF 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
607_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.83	M10321	0.80	1.00	0.91	1
48871_at²^{, 3}	U95-B	1	0.94	1.00	0.99	1.17	T90707	0.80	1.00	0.91	1
233980_s_at²	U133-B	2	1.00	0.95	--	--	--	--	--	--	--
202112_at²^{, 3}	U133-A	1	0.91	1.00	--	--	NM_000552	0.40	1.00	0.76	1
233980_s_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
202112_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

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

About GeneDecksing

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Data from

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

CGAP SAGE TAG: TTCTGCTCTT

SOURCE GeneReport for Unigene cluster: Hs.440848
Expression variation in blood from EXPOLDB for VWF
UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
Tissue specificity: 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 VWF gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	VWF¹	--	von Willebrand factor	87.2(n) 86.21(a)	399544 NM_001002932.1 NP_001002932.1
chimpanzee (Pan troglodytes)	VWF¹	--	von Willebrand factor	99.16(n) 99.04(a)	451773 XM_508945.2 XP_508945.2
cow (Bos taurus)	VWF¹	--	von Willebrand factor	82.06(n) 79.29(a)	280958 XM_584169.3 XP_584169.3
rat (Rattus norvegicus)	Vwf¹	--	Von Willebrand factor homolog	82.62(n) 81.46(a)	116669 XM_342759.3 XP_342760.3
mouse (Mus musculus)	Vwf^{1, 5}	6 (60.80 cM)⁵	Von Willebrand factor homolog^{1, 5}	83.68(n)¹ 83.4(a)¹	22371¹ NM_011708.3¹ NP_035838.3¹ AF152417⁵ AF539800⁵ (see all 28)

About this table Species with no ortholog for VWF

ENSEMBL Gene Tree for VWF

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

Paralogs for VWF gene

MUC2² MUC6²

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

10/1713 NCBI SNPs in VWF are shown (see all 1713 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 405)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1800378^1,2	A,C,F,H,O	6042463(-)	`CCAGCA/GTACAG`	1	H/R	mis¹ ese³		12	NA EU EA WA	1036
	rs1063856^1,2	A,C,F,H,O	6023795(-)	`AGTGTA/GCCAAA`	1	T/A	mis¹		14	MN EU EA WA NA	1274
	rs7976955^1,2	A,C,F,H	5928238(+)	`GAACCG/AGTCTC`	1	--	ng5¹		8	EU EA WA	826
	rs216321^1,2	C,F,H,O	6014245(+)	`GGTCCC/TGACAG`	1	R/Q	mis¹ ese³		19	MN EA NA EU WA	3146
--	rs1800385^1,2	A,F,H,O	5998152(-)	`AGCGGT/GTGCGA`	1	L/V	mis¹ ese³		4	MN EU EA	350
	rs10849358^1,2	A,C,F,H	5927853(+)	`CAGTCG/ATCAGC`	1	--	ng5¹		4	EU EA WA	418
--	rs216311^1,2	A,C,F,H	5998704(-)	`GCATCG/ACCCTG`	1	A/T	mis¹		8	MN EU EA WA NA	730
	rs1990326^1,2	A,C,F,H	5928172(+)	`CCAGAA/GGTTGG`	1	--	ng5¹		19	NA EA EU WA	1647
	rs7962217^1,2	C,F,H	5931820(+)	`CACTCC/TCTCAG`	1	G/R	mis¹ ese³		9	EU EA WA NA	884
	rs16932374^1,2	C,F,H	6026211(+)	`CCACTC/TATGGT`	1	M/I	mis¹ ese³		12	NA EU EA WA	1038

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HapMap Linkage Disequilibrium images for VWF (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.)
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OMIM: 193400

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Defects in VWF are associated with various forms of von Willebrand disease (VWD)

[MIM:193400, 277480]. VWD is characterized by frequent bleeding (gingival, minor skin quantitative

lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by

normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes

(A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high

molecular weight multimers in plasma

10/96 Novoseek disease relationships for VWF gene (see all 96 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
von willebrand disease	97.82	624	8456322 (3), 8236134 (3), 9684782 (3), 1409710 (3) (see all 99)
purpura thrombotic thrombocytopenic	86.91	88	8438900 (4), 19190805 (2), 9535389 (1), 10227776 (1) (see all 67)
prolonged bleeding time	83.00	55	7750191 (2), 9881332 (1), 10583513 (1), 11601234 (1) (see all 36)
von willebrand disease, platelet-type	82.37	10	1911886 (1), 7660135 (1), 12637314 (1), 8486780 (1) (see all 7)
coagulopathy	80.70	111	8500791 (2), 18333911 (2), 9873810 (2), 8328650 (1) (see all 92)
hemophilia a	78.56	36	8500791 (2), 8490173 (2), 8634427 (2), 1566742 (1) (see all 23)
bleeding tendency	78.40	39	1284714 (2), 18055987 (2), 10595636 (1), 19085767 (1) (see all 25)
bernard-soulier syndrome	76.52	11	8000916 (1), 8770359 (1), 7900092 (1), 9885217 (1) (see all 9)
thrombosis	73.75	168	7823669 (4), 8490173 (4), 11380453 (2), 15870546 (2) (see all 99)
bleeding	72.33	449	8562836 (4), 15166918 (4), 9766795 (3), 12411289 (3) (see all 99)

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1 PharmGKB disease relationship for VWF gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
heparin-induced thrombocytopenia	CO	12724616

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Genatlas disease: VWF

Willebrand disease,types I,II A and II B and recessive form

GeneTests: VWF

von Willebrand Disease

Human Gene Mutation Database: VWF
Genetic Association Database: VWF
Human Genome Epidemiology Navigator: VWF (69 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

10/2081 PubMed articles for VWF gene (see all 2081 ):

A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. (PubMed id 10887119)^{1, 3, 4} Allen S.... Daly M.E. (2000)
von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PubMed id 10961880)^{1, 3, 4} Haberichter S.L.... Montgomery R.R. (2000)
The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)^{1, 3, 6} Tirado I....Fontcuberta J. (2005)
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. (PubMed id 1409710)^{1, 3, 4} Rabinowitz I.... Sadler J.E. (1992)
Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study. (PubMed id 14717782)^{1, 3, 6} van der Meer I.M....Gomez Garcia E.B. (2004)
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. (PubMed id 8622978)^{1, 3, 4} Schneppenheim R.... Ruggeri Z.M. (1996)
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. (PubMed id 7620154)^{1, 3, 4} Hilbert L.... Mazurier C. (1995)
Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. (PubMed id 8088787)^{1, 3, 4} Zhang Z.P.... Anvret M. (1994)
Impact of the Thr789Ala variant of the von Willebrand factor levels, on ristocetin co-factor and collagen binding capacity and its association with coronary heart disease in patients with diabetes mellitus type 2. (PubMed id 16320153)^{1, 3, 6} Klemm T....Paschke R. (2005)
von Willebrand factor, platelets and endothelial cell interactions. (PubMed id 12871266)^{1, 3, 4} Ruggeri Z.M. (2003)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7450	HGNC: 12726	AceView: VWF	Ensembl:ENSG00000110799	euGenes: HUgn7450
ECgene: VWF	H-InvDB: VWF

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
vWF	http://www.vwf.group.shef.ac.uk/
GeneReviews	http://www.genetests.org/query?gene=VWF
Wikipedia	http://en.wikipedia.org/wiki/Von_Willebrand_factor

Licensable Technologies for VWF
(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 VWF:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

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Antibodies for VWF

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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

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VWF Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for VWF

Summaries
for VWF

Genomic Location
for VWF

Proteins
for VWF

Protein Domains/
Families
for VWF

Gene Function
for VWF

Pathways & Interactions
for VWF

Drugs & Compounds
for VWF

Transcripts
for VWF

Expression
for VWF

Orthologs
for VWF

Paralogs
for VWF

SNPs/Variants
for VWF

Disorders & Mutations
for VWF

Medical News
for VWF

Publications
for VWF

Search for VWF

Genome Databases showing VWF

Other Databases showing VWF

Specialized Databases showing VWF

Licensable Technologies
for VWF

Services
for VWF

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

VWF Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor VWF

Summariesfor VWF

Genomic Locationfor VWF

Proteinsfor VWF

Protein Domains/Familiesfor VWF

Gene Functionfor VWF

Pathways & Interactionsfor VWF

Drugs & Compoundsfor VWF

Transcriptsfor VWF

Expression for VWF

Orthologsfor VWF

Paralogsfor VWF

SNPs/Variantsfor VWF

Disorders & Mutationsfor VWF

Medical Newsfor VWF

Publicationsfor VWF

Search for VWF

Genome Databases showing VWF

Other Databases showing VWF

Specialized Databases showing VWF

Licensable Technologiesfor VWF

Servicesfor VWF

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 VWF

Summaries
for VWF

Genomic Location
for VWF

Proteins
for VWF

Protein Domains/
Families
for VWF

Gene Function
for VWF

Pathways & Interactions
for VWF

Drugs & Compounds
for VWF

Transcripts
for VWF

Expression
for VWF

Orthologs
for VWF

Paralogs
for VWF

SNPs/Variants
for VWF

Disorders & Mutations
for VWF

Medical News
for VWF

Publications
for VWF

Licensable Technologies
for VWF

Services
for VWF