Details for: VWF

Gene ID: 7450

Symbol: VWF

Ensembl ID: ENSG00000110799

Description: von Willebrand factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 113.2790
    Cell Significance Index: -17.6200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 69.1128
    Cell Significance Index: -17.5300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 40.4301
    Cell Significance Index: -16.4300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.2088
    Cell Significance Index: -16.4300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.2909
    Cell Significance Index: -17.6200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 13.1027
    Cell Significance Index: 188.4500
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 9.5057
    Cell Significance Index: 33.0700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 6.9531
    Cell Significance Index: 78.9900
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 6.7197
    Cell Significance Index: 48.2600
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 5.3534
    Cell Significance Index: 33.5200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 5.3169
    Cell Significance Index: 276.9500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 3.3645
    Cell Significance Index: 59.4600
  • Cell Name: vein endothelial cell of respiratory system (CL4033008)
    Fold Change: 2.7142
    Cell Significance Index: 17.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.6648
    Cell Significance Index: 53.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.2304
    Cell Significance Index: 11.3300
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 1.1948
    Cell Significance Index: 10.1100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9541
    Cell Significance Index: 20.6700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.7763
    Cell Significance Index: 4.6900
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.6529
    Cell Significance Index: 3.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4987
    Cell Significance Index: 94.9100
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: 0.4166
    Cell Significance Index: 5.7100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2781
    Cell Significance Index: 251.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2625
    Cell Significance Index: 25.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1778
    Cell Significance Index: 35.2800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1361
    Cell Significance Index: 22.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1086
    Cell Significance Index: 8.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1017
    Cell Significance Index: 20.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0636
    Cell Significance Index: 7.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0541
    Cell Significance Index: 5.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0472
    Cell Significance Index: 29.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0102
    Cell Significance Index: 0.3600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0102
    Cell Significance Index: 18.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0067
    Cell Significance Index: 12.5600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0032
    Cell Significance Index: 0.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0021
    Cell Significance Index: 0.3800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0021
    Cell Significance Index: 3.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0018
    Cell Significance Index: -1.3600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0032
    Cell Significance Index: -0.6700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0042
    Cell Significance Index: -5.7200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0085
    Cell Significance Index: -1.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0094
    Cell Significance Index: -5.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0186
    Cell Significance Index: -14.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0206
    Cell Significance Index: -7.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0216
    Cell Significance Index: -13.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0216
    Cell Significance Index: -3.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0222
    Cell Significance Index: -0.6400
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: -0.0226
    Cell Significance Index: -0.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0230
    Cell Significance Index: -1.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0238
    Cell Significance Index: -17.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0274
    Cell Significance Index: -12.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0333
    Cell Significance Index: -18.2000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0373
    Cell Significance Index: -16.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0466
    Cell Significance Index: -3.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0512
    Cell Significance Index: -2.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0559
    Cell Significance Index: -16.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0602
    Cell Significance Index: -6.1500
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.0626
    Cell Significance Index: -0.7700
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.0816
    Cell Significance Index: -1.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0947
    Cell Significance Index: -13.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1001
    Cell Significance Index: -13.7400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1128
    Cell Significance Index: -12.8800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1204
    Cell Significance Index: -7.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1258
    Cell Significance Index: -16.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1378
    Cell Significance Index: -5.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1471
    Cell Significance Index: -16.8500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1488
    Cell Significance Index: -3.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1605
    Cell Significance Index: -16.7100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1610
    Cell Significance Index: -3.3400
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: -0.1846
    Cell Significance Index: -2.0100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1939
    Cell Significance Index: -13.0400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2192
    Cell Significance Index: -16.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2287
    Cell Significance Index: -18.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2310
    Cell Significance Index: -14.2000
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.2674
    Cell Significance Index: -3.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2926
    Cell Significance Index: -13.7500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2976
    Cell Significance Index: -19.2000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3005
    Cell Significance Index: -6.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3166
    Cell Significance Index: -17.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3344
    Cell Significance Index: -14.7900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3501
    Cell Significance Index: -6.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3581
    Cell Significance Index: -18.8000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3586
    Cell Significance Index: -5.1400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3643
    Cell Significance Index: -5.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3853
    Cell Significance Index: -14.5900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3873
    Cell Significance Index: -20.1200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4091
    Cell Significance Index: -14.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4305
    Cell Significance Index: -20.0700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4590
    Cell Significance Index: -9.3400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4675
    Cell Significance Index: -14.8900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4704
    Cell Significance Index: -15.4000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4833
    Cell Significance Index: -17.7400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4923
    Cell Significance Index: -14.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4962
    Cell Significance Index: -13.2500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4975
    Cell Significance Index: -9.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5087
    Cell Significance Index: -13.6300
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.5167
    Cell Significance Index: -5.8700
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: -0.5238
    Cell Significance Index: -5.5200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5286
    Cell Significance Index: -18.3700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.5409
    Cell Significance Index: -7.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5608
    Cell Significance Index: -8.2800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** VWF is a large protein, composed of approximately 2,500 amino acids, and is characterized by its unique structure, which includes a type D domain, a type C domain, and a type A domain. The type D domain is responsible for binding to the platelet surface receptor glycoprotein Ib-IX-V, while the type C domain is involved in binding to collagen and von Willebrand factor. VWF is also highly glycosylated, with multiple repeats of the A domain, which are essential for its binding properties. **Pathways and Functions** VWF is involved in several key pathways, including: 1. **Blood coagulation**: VWF plays a critical role in the intrinsic pathway of hemostasis, facilitating platelet adhesion and aggregation at the site of injury. 2. **Cell-substrate adhesion**: VWF interacts with integrins to facilitate cell-substrate adhesion, which is essential for various cellular processes, including migration, proliferation, and differentiation. 3. **Cell adhesion**: VWF binds to collagen and von Willebrand factor, facilitating platelet adhesion to exposed collagen at the site of injury. 4. **Signaling pathways**: VWF interacts with various cell surface receptors, including integrins, to activate signaling pathways, including the MAPK and PI3K/AKT pathways. **Clinical Significance** VWF plays a critical role in maintaining hemostasis, and its dysfunction is associated with several bleeding disorders, including von Willebrand disease (VWD) and hemophilia A. VWD is the most common inherited bleeding disorder, affecting approximately 1 in 50 individuals, while hemophilia A is a rare genetic disorder affecting approximately 1 in 10,000 individuals. The clinical significance of VWF lies in its ability to regulate platelet function, cell adhesion, and signaling pathways, making it a critical component of the hemostatic response. **Significantly Expressed Cells and Proteins** VWF is expressed in various cell types, including: 1. **Alveolar capillary type 1 endothelial cells** 2. **Endothelial cells of vascular tree** 3. **Pulmonary artery endothelial cells** 4. **Cerebral cortex endothelial cells** 5. **Endocardial cells** 6. **Lung endothelial cells** 7. **Lung microvascular endothelial cells** 8. **Prostate gland microvascular endothelial cells** 9. **Blood vessel endothelial cells** The protein VWF_HUMAN is the primary protein associated with VWF. **Conclusion** In conclusion, VWF is a multifaceted protein that plays a critical role in hemostasis, cell adhesion, and signaling pathways. Its dysfunction is associated with several bleeding disorders, including von Willebrand disease and hemophilia A. Understanding the structure, function, and clinical significance of VWF is essential for developing effective treatments for these disorders.

Genular Protein ID: 3863210788

Symbol: VWF_HUMAN

Name: von Willebrand factor

UniProtKB Accession Codes:

P04275 Q8TCE8 Q99806

Database IDs:

ABCD 1 AGR 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 12 DrugCentral 1 ELM 1 EMBL 55 EMDB 15 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 22 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MEROPS 2 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 40 PDBsum 40 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 6 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 23 RefSeq 1 SASBDB 1 SIGNOR 1 SMART 6 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3489923

Title: Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

PubMed ID: 3489923

DOI: 10.1093/nar/14.17.7125

PubMed ID: 2584182

Title: Structure of the gene for human von Willebrand factor.

PubMed ID: 2584182

DOI: 10.1016/s0021-9258(19)47144-5

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3019665

Title: Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.

PubMed ID: 3019665

DOI: 10.1002/j.1460-2075.1986.tb04435.x

PubMed ID: 2828057

Title: The human von Willebrand factor gene. Structure of the 5' region.

PubMed ID: 2828057

DOI: 10.1111/j.1432-1033.1988.tb13757.x

PubMed ID: 3495266

Title: Evolution of human von Willebrand factor: cDNA sequence polymorphisms, repeated domains, and relationship to von Willebrand antigen II.

PubMed ID: 3495266

DOI: 10.1016/s0006-291x(87)80016-5

PubMed ID: 3524673

Title: Amino acid sequence of human von Willebrand factor.

PubMed ID: 3524673

DOI: 10.1021/bi00359a015

PubMed ID: 2864688

Title: Cloning and characterization of two cDNAs coding for human von Willebrand factor.

PubMed ID: 2864688

DOI: 10.1073/pnas.82.19.6394

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 3488076

Title: cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms.

PubMed ID: 3488076

DOI: 10.1021/bi00359a014

PubMed ID: 1988024

Title: Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.

PubMed ID: 1988024

DOI: 10.1021/bi00215a036

PubMed ID: 9373253

Title: Activation of human platelets by the membrane-expressed A1 domain of von Willebrand factor.

PubMed ID: 9373253

PubMed ID: 3874428

Title: Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

PubMed ID: 3874428

DOI: 10.1126/science.3874428

PubMed ID: 3873280

Title: Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method.

PubMed ID: 3873280

DOI: 10.1016/0092-8674(85)90060-1

PubMed ID: 3875078

Title: Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene.

PubMed ID: 3875078

DOI: 10.1093/nar/13.13.4699

PubMed ID: 3496594

Title: Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site.

PubMed ID: 3496594

DOI: 10.1073/pnas.84.13.4393

PubMed ID: 10961880

Title: von Willebrand factor storage and multimerization: 2 independent intracellular processes.

PubMed ID: 10961880

PubMed ID: 3502076

Title: Identification of disulfide-bridged substructures within human von Willebrand factor.

PubMed ID: 3502076

DOI: 10.1021/bi00399a013

PubMed ID: 3089784

Title: Primary structure of a new tetraantennary glycan of the N-acetyllactosaminic type isolated from human factor VIII/von Willebrand factor.

PubMed ID: 3089784

DOI: 10.1111/j.1432-1033.1986.tb09750.x

PubMed ID: 9218428

Title: The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.

PubMed ID: 9218428

DOI: 10.1074/jbc.272.29.18007

PubMed ID: 14760718

Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.

PubMed ID: 14760718

DOI: 10.1002/pmic.200300556

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 9553097

Title: Crystal structure of the von Willebrand factor A1 domain and implications for the binding of platelet glycoprotein Ib.

PubMed ID: 9553097

DOI: 10.1074/jbc.273.17.10396

PubMed ID: 9331419

Title: Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding.

PubMed ID: 9331419

DOI: 10.1016/s0969-2126(97)00266-9

PubMed ID: 9312128

Title: The von Willebrand factor A3 domain does not contain a metal ion-dependent adhesion site motif.

PubMed ID: 9312128

DOI: 10.1074/jbc.272.40.25162

PubMed ID: 12871266

Title: von Willebrand factor, platelets and endothelial cell interactions.

PubMed ID: 12871266

DOI: 10.1046/j.1538-7836.2003.00260.x

PubMed ID: 2786201

Title: Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

PubMed ID: 2786201

DOI: 10.1073/pnas.86.10.3723

PubMed ID: 1673047

Title: Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

PubMed ID: 1673047

PubMed ID: 1832934

Title: Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

PubMed ID: 1832934

DOI: 10.1111/j.1365-2141.1991.tb04480.x

PubMed ID: 1761120

Title: An Arg545-->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.

PubMed ID: 1761120

DOI: 10.1111/j.1600-0609.1991.tb01858.x

PubMed ID: 2010538

Title: Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.

PubMed ID: 2010538

DOI: 10.1172/jci115122

PubMed ID: 1672694

Title: The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

PubMed ID: 1672694

DOI: 10.1172/jci115123

PubMed ID: 2011604

Title: Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.

PubMed ID: 2011604

DOI: 10.1073/pnas.88.7.2946

PubMed ID: 1906179

Title: Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A.

PubMed ID: 1906179

DOI: 10.1073/pnas.88.14.6377

PubMed ID: 1729889

Title: Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

PubMed ID: 1729889

PubMed ID: 1420817

Title: Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.

PubMed ID: 1420817

PubMed ID: 1419803

Title: Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.

PubMed ID: 1419803

DOI: 10.1111/j.1365-2141.1992.tb04594.x

PubMed ID: 1419804

Title: Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.

PubMed ID: 1419804

DOI: 10.1111/j.1365-2141.1992.tb04595.x

PubMed ID: 1429668

Title: Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.

PubMed ID: 1429668

DOI: 10.1016/s0021-9258(18)50078-8

PubMed ID: 1409710

Title: von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.

PubMed ID: 1409710

DOI: 10.1073/pnas.89.20.9846

PubMed ID: 8338947

Title: Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.

PubMed ID: 8338947

PubMed ID: 8435341

Title: Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.

PubMed ID: 8435341

DOI: 10.1111/j.1365-2141.1993.tb04637.x

PubMed ID: 8348943

Title: Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.

PubMed ID: 8348943

PubMed ID: 8376405

Title: Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.

PubMed ID: 8376405

DOI: 10.1016/s0021-9258(20)80753-4

PubMed ID: 8486782

Title: von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

PubMed ID: 8486782

DOI: 10.1172/jci116443

PubMed ID: 8123843

Title: Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.

PubMed ID: 8123843

PubMed ID: 8123844

Title: Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.

PubMed ID: 8123844

PubMed ID: 8088787

Title: 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

DOI: 10.1006/geno.1994.1241

PubMed ID: 7989040

Title: Genetic heterogeneity of severe von Willebrand disease type III in the German population.

PubMed ID: 7989040

DOI: 10.1007/bf00206958

PubMed ID: 8011991

Title: Investigation of type IIC von Willebrand disease.

PubMed ID: 8011991

PubMed ID: 7620154

Title: 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

PubMed ID: 7734373

Title: A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.

PubMed ID: 7734373

DOI: 10.1111/j.1365-2141.1995.tb08383.x

PubMed ID: 8547152

Title: Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.

PubMed ID: 8547152

DOI: 10.1111/j.1365-2141.1995.tb05423.x

PubMed ID: 7789955

Title: Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.

PubMed ID: 7789955

DOI: 10.1007/bf00209487

PubMed ID: 8622978

Title: Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.

PubMed ID: 8622978

DOI: 10.1073/pnas.93.8.3581

PubMed ID: 10887119

Title: A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.

PubMed ID: 10887119

PubMed ID: 11698279

Title: Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.

PubMed ID: 11698279

DOI: 10.1182/blood.v98.10.2973

PubMed ID: 12406074

Title: Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.

PubMed ID: 12406074

DOI: 10.1046/j.1365-2141.2002.03819.x

PubMed ID: 15755288

Title: The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.

PubMed ID: 15755288

DOI: 10.1111/j.1365-2141.2005.05375.x

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 21592258

Title: C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

PubMed ID: 21592258

DOI: 10.1111/j.1365-2516.2011.02569.x

Sequence Information:

  • Length: 2813
  • Mass: 309265
  • Checksum: D5C1C78360917C29
  • Sequence:
    • MIPARFAGVL LALALILPGT LCAEGTRGRS STARCSLFGS DFVNTFDGSM YSFAGYCSYL 
LAGGCQKRSF SIIGDFQNGK RVSLSVYLGE FFDIHLFVNG TVTQGDQRVS MPYASKGLYL 
ETEAGYYKLS GEAYGFVARI DGSGNFQVLL SDRYFNKTCG LCGNFNIFAE DDFMTQEGTL 
TSDPYDFANS WALSSGEQWC ERASPPSSSC NISSGEMQKG LWEQCQLLKS TSVFARCHPL 
VDPEPFVALC EKTLCECAGG LECACPALLE YARTCAQEGM VLYGWTDHSA CSPVCPAGME 
YRQCVSPCAR TCQSLHINEM CQERCVDGCS CPEGQLLDEG LCVESTECPC VHSGKRYPPG 
TSLSRDCNTC ICRNSQWICS NEECPGECLV TGQSHFKSFD NRYFTFSGIC QYLLARDCQD 
HSFSIVIETV QCADDRDAVC TRSVTVRLPG LHNSLVKLKH GAGVAMDGQD VQLPLLKGDL 
RIQHTVTASV RLSYGEDLQM DWDGRGRLLV KLSPVYAGKT CGLCGNYNGN QGDDFLTPSG 
LAEPRVEDFG NAWKLHGDCQ DLQKQHSDPC ALNPRMTRFS EEACAVLTSP TFEACHRAVS 
PLPYLRNCRY DVCSCSDGRE CLCGALASYA AACAGRGVRV AWREPGRCEL NCPKGQVYLQ 
CGTPCNLTCR SLSYPDEECN EACLEGCFCP PGLYMDERGD CVPKAQCPCY YDGEIFQPED 
IFSDHHTMCY CEDGFMHCTM SGVPGSLLPD AVLSSPLSHR SKRSLSCRPP MVKLVCPADN 
LRAEGLECTK TCQNYDLECM SMGCVSGCLC PPGMVRHENR CVALERCPCF HQGKEYAPGE 
TVKIGCNTCV CQDRKWNCTD HVCDATCSTI GMAHYLTFDG LKYLFPGECQ YVLVQDYCGS 
NPGTFRILVG NKGCSHPSVK CKKRVTILVE GGEIELFDGE VNVKRPMKDE THFEVVESGR 
YIILLLGKAL SVVWDRHLSI SVVLKQTYQE KVCGLCGNFD GIQNNDLTSS NLQVEEDPVD 
FGNSWKVSSQ CADTRKVPLD SSPATCHNNI MKQTMVDSSC RILTSDVFQD CNKLVDPEPY 
LDVCIYDTCS CESIGDCACF CDTIAAYAHV CAQHGKVVTW RTATLCPQSC EERNLRENGY 
ECEWRYNSCA PACQVTCQHP EPLACPVQCV EGCHAHCPPG KILDELLQTC VDPEDCPVCE 
VAGRRFASGK KVTLNPSDPE HCQICHCDVV NLTCEACQEP GGLVVPPTDA PVSPTTLYVE 
DISEPPLHDF YCSRLLDLVF LLDGSSRLSE AEFEVLKAFV VDMMERLRIS QKWVRVAVVE 
YHDGSHAYIG LKDRKRPSEL RRIASQVKYA GSQVASTSEV LKYTLFQIFS KIDRPEASRI 
TLLLMASQEP QRMSRNFVRY VQGLKKKKVI VIPVGIGPHA NLKQIRLIEK QAPENKAFVL 
SSVDELEQQR DEIVSYLCDL APEAPPPTLP PDMAQVTVGP GLLGVSTLGP KRNSMVLDVA 
FVLEGSDKIG EADFNRSKEF MEEVIQRMDV GQDSIHVTVL QYSYMVTVEY PFSEAQSKGD 
ILQRVREIRY QGGNRTNTGL ALRYLSDHSF LVSQGDREQA PNLVYMVTGN PASDEIKRLP 
GDIQVVPIGV GPNANVQELE RIGWPNAPIL IQDFETLPRE APDLVLQRCC SGEGLQIPTL 
SPAPDCSQPL DVILLLDGSS SFPASYFDEM KSFAKAFISK ANIGPRLTQV SVLQYGSITT 
IDVPWNVVPE KAHLLSLVDV MQREGGPSQI GDALGFAVRY LTSEMHGARP GASKAVVILV 
TDVSVDSVDA AADAARSNRV TVFPIGIGDR YDAAQLRILA GPAGDSNVVK LQRIEDLPTM 
VTLGNSFLHK LCSGFVRICM DEDGNEKRPG DVWTLPDQCH TVTCQPDGQT LLKSHRVNCD 
RGLRPSCPNS QSPVKVEETC GCRWTCPCVC TGSSTRHIVT FDGQNFKLTG SCSYVLFQNK 
EQDLEVILHN GACSPGARQG CMKSIEVKHS ALSVELHSDM EVTVNGRLVS VPYVGGNMEV 
NVYGAIMHEV RFNHLGHIFT FTPQNNEFQL QLSPKTFASK TYGLCGICDE NGANDFMLRD 
GTVTTDWKTL VQEWTVQRPG QTCQPILEEQ CLVPDSSHCQ VLLLPLFAEC HKVLAPATFY 
AICQQDSCHQ EQVCEVIASY AHLCRTNGVC VDWRTPDFCA MSCPPSLVYN HCEHGCPRHC 
DGNVSSCGDH PSEGCFCPPD KVMLEGSCVP EEACTQCIGE DGVQHQFLEA WVPDHQPCQI 
CTCLSGRKVN CTTQPCPTAK APTCGLCEVA RLRQNADQCC PEYECVCDPV SCDLPPVPHC 
ERGLQPTLTN PGECRPNFTC ACRKEECKRV SPPSCPPHRL PTLRKTQCCD EYECACNCVN 
STVSCPLGYL ASTATNDCGC TTTTCLPDKV CVHRSTIYPV GQFWEEGCDV CTCTDMEDAV 
MGLRVAQCSQ KPCEDSCRSG FTYVLHEGEC CGRCLPSACE VVTGSPRGDS QSSWKSVGSQ 
WASPENPCLI NECVRVKEEV FIQQRNVSCP QLEVPVCPSG FQLSCKTSAC CPSCRCERME 
ACMLNGTVIG PGKTVMIDVC TTCRCMVQVG VISGFKLECR KTTCNPCPLG YKEENNTGEC 
CGRCLPTACT IQLRGGQIMT LKRDETLQDG CDTHFCKVNE RGEYFWEKRV TGCPPFDEHK 
CLAEGGKIMK IPGTCCDTCE EPECNDITAR LQYVKVGSCK SEVEVDIHYC QGKCASKAMY 
SIDINDVQDQ CSCCSPTRTE PMQVALHCTN GSVVYHEVLN AMECKCSPRK CSK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.