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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

VWF Gene

protein-coding GIFtS: 73
GCID: GC12M006058

von Willebrand factor

(Previous symbol: F8VWF)

Explore 259 diseases affiliated with
VWF 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
Von Willebrand Factor¹ ²
F8VWF¹ ² ³
VWD²
Coagulation Factor VIII VWF²
VWF¹
F8⁵

External Ids:	HGNC: 12726¹	Entrez Gene: 7450²	Ensembl: ENSG00000110799⁷	OMIM: 613160⁵	UniProtKB: P04275³

Export aliases for VWF gene to outside databases

Previous GC identifers: GC12M005930 GC12M005928 GC12M005917

(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 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, Jul 2008)

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 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_000012.11 NC_018923.1 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the VWF gene promoter:
AML1a Chx10 MyoD GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VWF promoter sequence

Search SABiosciences Chromatin IP Primers for VWF

Epigenetics:

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

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

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)
VWF gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M006058: view genomic region (about GC identifiers)

Start:	6,058,040 bp from pter	End:	6,233,936 bp from pter
Size:	175,897 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: VWF_HUMAN, P04275 (See protein sequence)

Recommended Name: von Willebrand factor precursor

Size: 2813 amino acids; 309265 Da

Subunit: Multimeric. Interacts with F8

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

Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown

origin in the N-terminal part;

6/22 PDB 3D structures from and Proteopedia for VWF (see all 22):

1AO3 (3D)

1ATZ (3D)

1AUQ (3D)

1FE8 (3D)

1FNS (3D)

1IJB (3D)

Secondary accessions: Q99806

Explore the universe of human proteins at neXtProt for VWF: NX_P04275

Post-translational modifications:

All cysteine residues are involved in intrachain or interchain disulfide bonds¹

N- and O-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04275

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

REFSEQ proteins: NP_000543.2

ENSEMBL proteins:

ENSP00000261405 ENSP00000461331 ENSP00000459134 ENSP00000461318

Reactome Protein details: P04275
Human Recombinant Protein Products:

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	Novus Biologicals VWF Protein Novus Biologicals VWF Lysates
	Sino Biological Recombinant Protein for VWF
	ProSpec Recombinant Protein for VWF
	Uscn Proteins for VWF

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005783	endoplasmic reticulum	IDA	6754744
GO:0009897	external side of plasma membrane	IEA	--
GO:0031012	extracellular matrix	IDA	6754744

VWF for ontologies About GeneDecksing

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Assay Products for VWF:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for VWF

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

VWF for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR014853 Unchr_dom_Cys-rich

IPR012011 VWF

IPR002919 TIL_dom

IPR006207 Cys_knot_C

IPR001007 VWF_C

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

Function Summary:

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VWF
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		hsa-miR-4265 hsa-miR-4296
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VWF (see all 4) OriGene shRNA RFP: VWF OriGene siRNA: VWF
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for VWF

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

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:0005515	protein binding	IPI	16221672
GO:0005518	collagen binding	IDA	2056120

VWF for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for VWF:

Cell cycle / mitosis defect

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

Animal Models:
Mouse knock-out Vwf^tm1Wgr for VWF
8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Vwf):

cardiovascular system	cellular	digestive/alimentary	hematopoietic system	homeostasis/metabolism
immune system	mortality/aging	nervous system

VWF for phenotypes About GeneDecksing

(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 - 5/12 super-pathways (see all 12) 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 Coagulation Signaling Pathways	0.51
	Intrinsic Pathway	0.59			Blood Clotting Cascade	0.36

GP1b signaling involves c-Src

	GP1b signaling involves c-Src	1.00			Platelet Adhesion to exposed collagen	0.36
	GP1b-IX-V activation signalling	0.60

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Integrin alphaIIb beta3 signaling

Integrin alphaIIb beta3 signaling

1.00

Platelet Aggregation (Plug Formation)

0.73

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for VWF

Selected targets of C/EBPbeta

1 R&D Systems Pathway for VWF

Blood Coagulation Signaling Pathways

3 BioSystems Pathways for VWF

	Blood Clotting Cascade
	Focal Adhesion
	Complement and Coagulation Cascades

5/15 Reactome Pathways for VWF (see all 15)

	Hemostasis
	Platelet Adhesion to exposed collagen
	Integrin cell surface interactions
	GP1b-IX-V activation signalling
	Intrinsic Pathway

1 PharmGKB Pathway for VWF

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for VWF):

	Focal adhesion
	ECM-receptor interaction
	Complement and coagulation cascades

VWF for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/37 Interacting proteins for VWF (P04275^{1, 2, 3} ENSP00000261405⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZNF512B	Q96KM6²^,³	MINT-60830 I2D: score=2
GP1BA	P07359¹^,²^,³, ENSP00000329380⁴	EBI-981819,EBI-297082 MINT-17868 MINT-24838 I2D: score=3 STRING: ENSP00000329380
ADAMTS13	Q76LX8¹^,³, ENSP00000360997⁴	EBI-981819,EBI-981764 I2D: score=3 STRING: ENSP00000360997
CALR	P27797³, ENSP00000320866⁴	I2D: score=3 STRING: ENSP00000320866
COL1A1	P02452³, ENSP00000225964⁴	I2D: score=3 STRING: ENSP00000225964

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0001890	placenta development	IEA	--
GO:0002576	platelet degranulation	TAS	--
GO:0006950	response to stress	--	--
GO:0007155	cell adhesion	IDA	10764791

VWF 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

VWF for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for VWF

1 DrugBank Compound for VWF About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Antihemophilic Factor	AHF (see all 3)	--	target	binder	2942172 2128855 14750934 11858481 10938981

10/135 Novoseek chemical compound relationships for VWF gene (see all 135) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ristocetin	97.1	956	7887899 (6), 19694940 (5), 17977030 (5), 14757772 (4) (see all 99)
desmopressin	91.1	630	11992235 (10), 7690994 (6), 17164493 (6), 2108732 (6) (see all 99)
fibrinogen	87.2	964	17650077 (9), 17622488 (7), 15745313 (7), 9416937 (6) (see all 99)
crotalin	72.1	3	9473223 (2)
calin	66	5	9490916 (1), 9164855 (1), 7833474 (1), 10494781 (1)
aurintricarboxylic acid	65.6	39	1287886 (4), 18957047 (2), 7749846 (1), 9459348 (1) (see all 16)
adp	64.9	103	2154674 (3), 2401846 (3), 8051492 (3), 2346725 (2) (see all 56)
kogenate	63.9	9	7639276 (2), 18078401 (2), 7483501 (1), 11122270 (1) (see all 6)
koate-hp	63.7	2	11563592 (1), 8191394 (1)
rfviii	61.2	15	10456452 (2), 8199023 (1), 8652394 (1), 18983499 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about VWF

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 VWF gene:

NM_000552.3

Unigene Cluster for VWF:

Von Willebrand factor

Hs.440848 [show with all ESTs]

Unigene Representative Sequence: NM_000552

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

ENST00000261405(uc001qnn.1 uc010set.1) ENST00000538635 ENST00000539641

ENST00000321023 ENST00000538563 ENST00000545906 ENST00000540192 ENST00000572068(uc001qno.1)

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		hsa-miR-4265 hsa-miR-4296
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VWF

Additional cDNA sequence:

AF086470.1 AK128487.1 AK292122.1 AK297600.1 BC022258.1 BC069030.1 K03028.1 M10321.1

M17588.1 U81237.1 X02672.1 X04146.1 X04385.1

21 DOTS entries:

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

DT.97790477 DT.97846422 DT.121129157 DT.40121611 DT.95170466 DT.99966582 DT.429976 DT.91762385

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

349 AceView cDNA sequences (see top 24):

BX457215 AA683280 BQ029045 BM992949 CA434711 BX506171 BU077753 BC022258

BM931624 AU140697 BU732004 CB265720 AA304286 BQ941759 CB267322 BQ898017

BQ004477 BQ933496 AW516991 BM955958 BQ722193 CA393649 AU141516 AA304187

BQ003750 AW006466 CB266691 AW088268 X04385 BQ882131 AL047255 CD517637

BM978014 T27768 AU140314 AI131038 AL549326 AU158381 CA427853 BQ024352

BC069030 BM699079 AI193992 X02672 AA457534 BM999024 CB266865 BQ709973

CA426966 BQ002446 BP339501 AA323834 AW015780 M17588 AL119583 AL133966

CD743187 BX327180 AU140989 CB270717 R09280 AU142074 AI949505 AA977265

AA301964 CA407485 M10321 W73631 AA994808 AA634187 AA304547 AA317618

AJ346789 CA396861 CD608949 AL045525 BU682587 BF922202 BQ709738 R54658

AF086470 BP368103 AA416823 BM991142 AU140198 AU158360 AA827276 AJ346179

BP340610 AA303603 AA977793 BU145673 BV204920 BM008126 BM993375 BM685612

BF989079 CK005069 AI352482 AA302021 BF446255 AU140411 AL038892 AL039749

AI354607 AA775051 AU140239 AU140585 AL573601 AI144543 BQ018831 AU140638

AU140542 AA911740 CB270836 AJ346199 CA435359 NM_000552 BI767618 AL549477

BM708156 BF437136 AJ571848 CA406142 AL600546 BI490763 AU140168 BQ574942

AU140767 CA391667 AA359696 AL138030 AL549503 F01368 AU137787 BF922266

AA368591 BV174274 CD171982 AU140984 AA010711 AA147908 BQ712309 BM708543

AU140205 BQ716272 CA449291 CA395834 AU140938 AA417370 F05119 AW811712

AA550826 U81237 AI972463 BQ716176 AU140944 BQ711187 BQ028745 CB268793

CD608960 CD608936 AI868124 R17627 AU141370 K03028 X04146 AA573227

CD608947 CD608962 AA147852 AI285524 AI580356 AA301734 AA188310 AA527438

AA487787 AA187549 BF222531 AI830435 AA457630 AI679648 CD608926 CD608945

AA775204 CD608938 AA604487 AA186675 AW080525 CD608954 BP345208 W73679

AA687493 BM689155 AA968442 AI024247 BF773382 AI623840 AI969871 BF992729

R54854 BX327181 CD608919 AA622720 AW963013 AW516239 AA984782 AA303586

BG537426 AA193212 AI868782 BF922387 AL039405 CD608924 AA304000 BP378722

H64571 AA359736 BQ926687 AA302169 AW381237 CD608944 CD359495 AI299576

AW418853 CD608941 CD608952 CD608956 AA359162 AA193211 BQ712338 AW181931

AI242112 AU158951 BF340738 CD690980 CD608930 AW131353 N75461 AI160564

AL572255 AI913446 BF922256 AW196072 CB051605 AA303286 AI937831 CD608933

BF922268 AW380784 AA132052 AW130670 BF922201 CD608931 BF922318 AA911815

BF901177 AA181933 D59022 AI373146 CD701923 AI970659 AA181088 BF922338

CA393079 AA665618 BF879592 AW192754 BF922208 W05270 AV696888 BF922190

AU158577 AA187845 BF922343 AA303375 AU158548 BF814649 AU158480 C03205

AU158614 CB268149 BF851335 R43348 AI499955 AA775344 AA485883 AA082107

AA335538 AI364395 AA148277 CD608939 AA702591 BM716796 CD608922 CD608918

AI597904 BE710579 AW571804 CD608958 BM932065 AL547229 AI866222 BF850124

BF759431 H27229 AA148276 R09176 BE932375 W81442 BQ361135 AA335543

BF740323 AA983590 AI961168 BP343964 BF922181 AA130516 CD608927 BU147004

AA721546 BG677984 AI907285 AI003411 BP345654 AW955872 AA327192 AI581435

AI694842 AA996285 R73939 BX329057 BF740838 BQ361433 BQ329321 BI051123

T90707 BQ301486 CD608913 AW955871 BQ888783 AA992712 CD608915 CD608907

CD608905 CD608909 T61561 BF922325 CD608911

GeneLoc Exon Structure

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

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:

ECgene alternative splicing isoforms for VWF

(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

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

About this image

VWF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pericytes

Endocardial Tube Cells

Endocardium

Ovary

Ovigerous Cord

Ovarian Somatic Cells

Ovary

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Myoblasts

Skeletal Muscle

Heart

Heart Tube

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/22 LifeMap Cells (see all 22)

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

Endothelial progenitor cells (Adult Stem / Progenitor Cell)

Endothelium

Human umbilical vein endothelial cells (HUVEC) (Primary Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Endothelial-like cells (Generation of hemato...)

Brain microvascular endothelial cells (Derivation of blood-...)

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

SOURCE GeneReport for Unigene cluster: Hs.440848

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Tissue specificity: Plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including VWF:

Cell Surface Markers in human mouse rat

Endothelial Cell Biology in human mouse rat

Atherosclerosis in human mouse rat

Mesenchymal Stem Cell in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VWF Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat VWF
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF

(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 VWF gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	VWF¹	von Willebrand factor	61.76(n) 56.69(a)		419031 XM_417223.3 XP_417223.3
lizard (Anolis carolinensis)	Reptilia	VWF⁶	--	55(a)	1 ↔ 1	5(81821509-82020084)
zebrafish (Danio rerio)	Actinopterygii	vwf¹	von Willebrand factor	56.16(n) 47.86(a)		570643 XM_002665310.2 XP_002665356.2

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

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

Paralogs for VWF gene

MUC5AC² TECTA² OTOG² MUC2² OTOGL² MUC6² MUC5B² MUC19²

FCGBP² BMPER²

2 SIMAP similar genes for VWF using alignment to 5 protein entries: VWF_HUMAN (see all proteins):

COL21A1 MG1

VWF for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for VWF
PGOHUM00000246202

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800382^1,2	C,F	non-pathogenic	5980396(-)	`TGTCCG/ACTACG`	2	/H /R	mis¹		2		NA EU	5867
rs61751310^1,2	C	pathogenic	5910269(-)	`GCTCCC/TGCTGC`	2	R C	mis¹		0	--	--	--	--
rs61751296^1,2	C	pathogenic	5930464(-)	`GTGTCC/TGAGTG`	2	R *	stg¹		1		NA	4552
rs61750630^1,2	C	pathogenic	5943051(-)	`AGCCTG/TCAGGA`	2	C F	mis¹		0	--	--	--	--
rs61750612^1,2	C	pathogenic	5974719(-)	`TCCAGC/TGAATC`	2	R *	stg¹		0	--	--	--	--
rs61750595^1,2	C	pathogenic	5979617(-)	`TCCCCC/TGAGAG`	2	R *	stg¹		0	--	--	--	--
rs61750584^1,2	C	pathogenic	5979709(-)	`GCCCAC/TTGGAG`	2	T I	mis¹		0	--	--	--	--
rs61750581^1,2	C	pathogenic	5979755(-)	`CTGCCC/TCTGAT`	2	P S	mis¹		0	--	--	--	--
rs61750579^1,2	C	pathogenic	5979772(-)	`CATGGA/TCACCG`	2	D V	mis¹		0	--	--	--	--
rs61750117^1,2	C	pathogenic	5979803(-)	`GTGACC/G/TGGGAG`	3	R G W	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for VWF (6058040 - 6233936 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for VWF
1 CNV: 71446
Human Gene Mutation Database (HGMD): VWF

Locus Specific Mutation Databases (LSDB): VWF

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for VWF

(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

VWF for disorders           About GeneDecksing

OMIM gene information: 613160
OMIM disorders: 613554  193400  277480
UniProtKB/Swiss-Prot: VWF_HUMAN, P04275

Defects in VWF are the cause of von Willebrand disease type 1 (VWD1) [MIM:193400]. A common hemorrhagic

disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von

Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor,

that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as

epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma

Defects in VWF are the cause of von Willebrand disease type 2 (VWD2) [MIM:613554]. A hemorrhagic disorder due

to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease

type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in

different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are

defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to

bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged

bleeding after surgery or trauma

Defects in VWF are the cause of von Willebrand disease type 3 (VWD3) [MIM:277480]. A severe hemorrhagic

disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also

leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include

epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses

20/259 diseases for VWF (see all 259): About MalaCards

von willebrand's disease von willibrand disease, type 3 qualitative platelet defect african tick-bite fever

bernard-soulier syndrome factor xii deficiency monoclonal gammopathy of undetermined significance hemolytic-uremic syndrome

glycogen storage disease type ia bombay phenotype glanzmann's thrombasthenia type 3 von willebrand disease

type 1 von willebrand disease intermittent claudication paroxysmal nocturnal hemoglobinuria acquired von willebrand syndrome

retinal vein occlusion hermansky-pudlak syndrome central retinal vein occlusion factor xi deficiency

14 diseases from the University of Copenhagen DISEASES database for VWF:

Von Willebrand's disease Thrombophilia Vascular disease Bernard-Soulier syndrome

Thrombocytopenia Heart disease Glanzmann's thrombasthenia Diabetes mellitus

Brain disease Anemia Cancer Kidney failure

Connective tissue disease Hypersensitivity reaction type II disease

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
von willebrand disease	97.8	680	8456322 (3), 8236134 (3), 9684782 (3), 1409710 (3) (see all 99)
purpura thrombotic thrombocytopenic	87.5	100	8438900 (4), 19190805 (2), 9535389 (1), 10227776 (1) (see all 77)
prolonged bleeding time	82.7	61	7750191 (2), 9881332 (1), 10583513 (1), 11601234 (1) (see all 38)
von willebrand disease, platelet-type	82.2	11	19951970 (1), 1911886 (1), 7660135 (1), 12637314 (1) (see all 8)
coagulopathy	81	122	8500791 (2), 18333911 (2), 9873810 (2), 8328650 (1) (see all 99)
hemophilia a	78.4	41	8500791 (2), 8490173 (2), 8634427 (2), 19506355 (2) (see all 25)
bleeding tendency	78	41	1284714 (2), 18055987 (2), 19506363 (1), 10595636 (1) (see all 27)
bernard-soulier syndrome	76.3	12	8000916 (1), 8770359 (1), 20462086 (1), 7900092 (1) (see all 10)
thrombosis	74.2	185	7823669 (4), 8490173 (4), 11380453 (2), 15870546 (2) (see all 99)
bleeding	72.3	511	20008188 (5), 8562836 (4), 15166918 (4), 9766795 (3) (see all 99)

Genatlas disease: VWF

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

GeneTests: VWF

von Willebrand Disease

Genetic Association Database (GAD): VWF
Human Genome Epidemiology (HuGE) Navigator: VWF (99 documents)

Export disorders for VWF 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 VWF gene, integrated from 9 sources (see all 2673):
(articles sorted by number of sources associating them with VWF)

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

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, 2, 9} Allen S.... Daly M.E. (2000)
von Willebrand factor storage and multimerization: 2 independent intracellular processes. (PubMed id 10961880)^{1, 2, 9} 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, 4, 9} Tirado I....Fontcuberta J. (2005)
The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke. (PubMed id 11755948)^{1, 4, 9} Dai K....Ruan C. (2001)
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. (PubMed id 1409710)^{1, 2, 9} 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, 4, 9} 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, 2, 9} 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, 2, 9} 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, 2, 9} 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, 4, 9} Klemm T....Paschke R. (2005)

(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: 7450	HGNC: 12726	AceView: VWF	Ensembl:ENSG00000110799	euGenes: HUgn7450
ECgene: VWF	Kegg: 7450	H-InvDB: VWF

(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 VWF	Pharmacogenomics, SNPs, Pathways
vWF	http://www.vwf.group.shef.ac.uk/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VWF
Wikipedia	http://en.wikipedia.org/wiki/Von_Willebrand_factor

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

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Patent Information for VWF gene:
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GeneCards and IP:
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Category			VWF (GIFTS: 73) von Willebrand factor
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von Willebrand factor

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PT PROLONGED
Microalbuminuria
Intermittent Claudication
Collagen Diseases
ABNORMAL PLATELETS
Hemorrhagic diseases
Raynauds Phenomenon
Peripheral Vascular Diseases
essential hypertension
UREMIC SYNDROME
Angiodysplasia
Anemia Hemolytic
coagulopathy
Acute myocardial infarction
Monoclonal Gammopathies Benign
Purpura Thrombotic Thrombocytopenic
Atherosclerosis
PLATELET AGGREGATION, SPONTANEOUS
VON WILLEBRAND DISEASE, PLATELET-TYPE
Neovascularization
Antiphospholipid Syndrome
platelet disorder
Hypofibrinogenemia
cell damage
Thrombocytopenia
Monoclonal gammopathy
Cerebral Thrombosis
RENAL DISEASE
Myeloproliferative Disorders
Cerebral Infarction
ARTERIAL THROMBOSIS
Inflammation
Factor XII Deficiency
Diabetic Nephropathies
Microangiopathy Diabetic
Coronary Thrombosis
SICKLE CELL DISEASE
Hyperhomocysteinemia
Bernard-Soulier Syndrome
Cardiovascular Diseases
HELLP Syndrome
Thrombosis
PULMONARY HYPERTENSION SECONDARY
Necrosis
Vascular Neoplasms
SUBCUTANEOUS HEMATOMA
Preeclampsia
Coronary Heart Disease
Thrombocytosis
Blood Loss Surgical
APC Resistance
Purpura Thrombocytopenic
Angiosarcoma
Vasculitis
Eisenmenger Syndrome
Venous Thrombosis
atherosclerotic plaque
Systemic Inflammatory Response Syndrome
Atrial Fibrillation
retinopathy
Hypothyroidism
Hemarthrosis
Arterial Occlusive Diseases
VENOUS OCCLUSION
BLEEDING TENDENCY
Inherited Coagulation Disorders
Qualitative platelet defects
Uremia
Albuminuria
Myocardial Infarction
Coronary Artery Disease
von Willebrand Disease
Hemolytic-Uremic Syndrome
Response Acute Phase
Insulin Resistance
Hemophilia A
Bleeding
Coronary atheroma
Afibrinogenemia
Menorrhagia
Postpartum Hemorrhage
associated conditions
Glanzmann Thrombasthenia
STROKE
Thrombophilia
PROLONGED BLEEDING TIME
Vascular Diseases
Thrombocythemia Essential
reactive hyperemia
NIDDM
platelet dysfunction
Sclerosis Systemic
Granuloma Pyogenic
Lupus Erythematosus Systemic
Thromboembolism
Renal Failure Chronic

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VWF Gene

von Willebrand factor

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Publications
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Intellectual Property
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Products
for VWF gene