VWF - von Willebrand factor Gene
Also Known as VWD; F8VWF
Species: Homo sapiens
About VWF
This gene has 9 transcripts (splice variants), 196 orthologues, 19 paralogues and is associated with 9 phenotypes. Broad expression in fat (RPKM 93.4), lung (RPKM 58.7) and 16 other tissues.
Summary
This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
VWF Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000552.5 | NP_000543.3 | von Willebrand factor preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables collagen binding |
IDA
IDA: Inferred from direct assay
|
2056120 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
10887119 | GOA |
| enables immunoglobulin binding |
IDA
IDA: Inferred from direct assay
|
3121636 | GOA |
| enables integrin binding |
IPI
IPI: Inferred from physical interaction
|
9079671 | GOA |
| enables protease binding |
IDA
IDA: Inferred from direct assay
|
15824096 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
12775718 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
2839553 | GOA |
| enables protein-folding chaperone binding |
IDA
IDA: Inferred from direct assay
|
10887119 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in blood coagulation |
IMP
IMP: Inferred from mutant phenotype
|
16409464 | GOA |
| involved in cell adhesion |
IDA
IDA: Inferred from direct assay
|
10764791 | GOA |
| involved in cell-substrate adhesion |
IDA
IDA: Inferred from direct assay
|
9079671 | GOA |
| involved in hemostasis |
IMP
IMP: Inferred from mutant phenotype
|
10887119 | GOA |
| involved in platelet activation |
IDA
IDA: Inferred from direct assay
|
8565074 | GOA |
| involved in positive regulation of intracellular signal transduction |
IDA
IDA: Inferred from direct assay
|
14656219 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Weibel-Palade body |
IDA
IDA: Inferred from direct assay
|
3082891 | GOA |
| located in collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
6754744 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
6754744 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
10887119 | GOA |
VWF Protein Structure
VWD: von Willebrand factor type D domain (35 - 179)
C8: C8 domain (221 - 292)
TIL: Trypsin Inhibitor like cysteine rich domain (295 - 348)
VWD: von Willebrand factor type D domain (388 - 540)
C8: C8 domain (579 - 649)
TIL: Trypsin Inhibitor like cysteine rich domain (652 - 707)
TIL: Trypsin Inhibitor like cysteine rich domain (787 - 827)
VWD: von Willebrand factor type D domain (867 - 1011)
C8: C8 domain (1056 - 1127)
TIL: Trypsin Inhibitor like cysteine rich domain (1145 - 1196)
VWA: von Willebrand factor type A domain (1277 - 1452)
VWA: von Willebrand factor type A domain (1498 - 1644)
VWA: von Willebrand factor type A domain (1691 - 1857)
VWD: von Willebrand factor type D domain (1950 - 2102)
C8: C8 domain (2136 - 2200)
TIL: Trypsin Inhibitor like cysteine rich domain (2203 - 2254)
VWC: von Willebrand factor type C domain (2431 - 2494)
VWC: von Willebrand factor type C domain (2582 - 2644)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 2813 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
von Willebrand factor |
|
VWF Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
VWF | P04275 | P00451-PRO_0000002967 | Homo sapiens | P00451-PRO_0000002967 | 8562925 | |
|
Intra
|
VWF | P04275 | GP1BA | Homo sapiens | P07359 | 15039442 | |
|
Intra
|
VWF | P04275 | ADAMTS13 | Homo sapiens | Q76LX8 | 18492805 | |
|
Intra
|
VWF | P04275 | ADAMTS13 | Homo sapiens | Q76LX8 | 25512528 | |
|
Intra
|
VWF | P04275 | ADAMTS13 | Homo sapiens | Q76LX8 | 16221672 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 21857647 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 21857647 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 18182488 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 18182488 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 21857647 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 21857647 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 18492805 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 18182488 | |
|
Intra
|
VWF | P04275 | VWF | Homo sapiens | P04275 | 17895385 |
Recombinant VWF Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73541 | Von Willebrand Factor/vWF Protein, Human (CHO, His) | AAB59458.1 (A23-K2813) | ≥ 90%, as determined by reducing SDS-PAGE. |
VWF Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82661 | von Willebrand Factor Antibody (YA2406) | WB, IHC-P | Rat |
| HY-P82661A | von Willebrand Factor Antibody (YA2406)(PBS only) | WB, IHC-P | Rat |
| HY-P86402 | von Willebrand Factor Antibody (YA6094) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Von Willebrand Disease, Type 1 |
|
|
| Von Willebrand Disease, Type 2 |
|
|
| Von Willebrand Disease, Type 3 |
|
|
| Von Willebrand'S Disease |
|
|
| Thrombocytopenia |
|
|
| Angiodysplasia |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Peripheral Vascular Disease |
|
|
| Hemophilia A |
|
|
| Intermittent Claudication |
|
|
| Qualitative Platelet Defect |
|
|
| Pseudo-Von Willebrand Disease |
|
|
| Blood Platelet Disease |
|
|
| Hypertensive Retinopathy |
|
|
| Bernard-Soulier Syndrome |
|
|
| Hemophilia |
|
|
| Hemorrhagic Disease |
|
|
| Acquired Von Willebrand Syndrome |
|
|
| Eisenmenger Syndrome |
|
|
| Glanzmann Thrombasthenia 1 |
|
|
| Blood Coagulation Disease |
|
|
| Afibrinogenemia, Congenital |
|
|
| Factor Viii Deficiency |
|
|
| Venous Insufficiency |
|
|
| Uremia |
|
|
| Hemolytic-Uremic Syndrome |
|
|
| Thrombophilia |
|
|
| Hemarthrosis |
|
|
| Thrombosis |
|
|
| Purpura |
|
|
| Platelet Aggregation, Spontaneous |
|
|
| Malignant Hypertension |
|
|
| Antiphospholipid Syndrome |
|
|
| Gray Platelet Syndrome |
|
|
| Vascular Disease |
|
|
| Essential Thrombocythemia |
|
|
| Vasculitis |
|
|
| Intracranial Thrombosis |
|
|
| Hellp Syndrome |
|
|
| Coronary Thrombosis |
|
|
| Carotid Stenosis |
|
|
| Thrombophilia Due To Activated Protein C Resistance |
|
|
| Varicose Veins |
|
|
| Disseminated Intravascular Coagulation |
|
|
| Pulmonary Embolism |
|
|
| Raynaud Disease |
|
|
| Hepatopulmonary Syndrome |
|
|
| Microcephaly 4, Primary, Autosomal Recessive |
|
|
| Thrombophilia Due To Thrombin Defect |
|
|
| Coronary Stenosis |
|
|
| Acute Myocardial Infarction |
|
|
| Hyperhomocysteinemia |
|
|
| Atrial Fibrillation |
|
|
| Brachydactyly, Type D |
|
|
| Collagen Disease |
|
|
| Cardiovascular System Disease |
|
|
| Active Peptic Ulcer Disease |
|
|
| Factor Xii Deficiency |
|
|
| Stroke, Ischemic |
|
|
| Vascular Cancer |
|
|
| Hemolytic Anemia |
|
|
| Retinal Vein Occlusion |
|
|
| Myocardial Infarction |
|
|
| Pulmonary Artery Disease |
|
|
| Impotence |
|
|
| Thrombocytosis |
|
|
| Pre-Eclampsia |
|
|
| Diabetes Insipidus |
|
|
| Atherosclerosis Susceptibility |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Splenic Sequestration |
|
|
| Hyaline Fibromatosis Syndrome |
|
|
| Hypothyroidism |
|
|
| Nonbacterial Thrombotic Endocarditis |
|
|
| Malaria |
|
|
| Alcoholic Hepatitis |
|
|
| Angiosarcoma |
|
|
| Hyperthyroidism |
|
|
| Hypertension, Essential |
|
|
| Arthritis |
|
|
| Hemangioma |
|
|
| Hydronephrosis |
|
|
| Factor Xiii Deficiency |
|
|
| Congestive Heart Failure |
|
|
| Carotid Artery Thrombosis |
|
|
| Polycythemia Vera |
|
|
| Post-Thrombotic Syndrome |
|
|
| Factor Xi Deficiency |
|
|
| Lymphangiosarcoma |
|
|
| Myeloproliferative Neoplasm |
|
|
| Heart Disease |
|
|
| Factor V Deficiency |
|
|
| Hepatic Vascular Disease |
|
|
| Limb Ischemia |
|
|
| Factor X Deficiency |
|
|
| Intracranial Embolism |
|
|
| Generalized Atherosclerosis |
|
|
| Vein Disease |
|
|
| Aortic Valve Insufficiency |
|
|
| Systemic Lupus Erythematosus |
|
|
| Portal Vein Thrombosis |
|
|
| Medulloadrenal Hyperfunction |
|
|
| Deafness, Autosomal Recessive 110 |
|
|
| Endocardium Disease |
|
|
| Bleeding Disorder, Platelet-Type, 11 |
|
|
| Aortic Valve Disease 1 |
|
|
| Infective Endocarditis |
|
|
| Carotid Artery Disease |
|
|
| Temporal Arteritis |
|
|
| Kidney Disease |
|
|
| Primary Thrombocytopenia |
|
|
| Glycogen Storage Disease |
|
|
| Chronic Venous Insufficiency |
|
|
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
|
| Thrombophlebitis |
|
|
| Hemophilia B |
|
|
| Diarrhea |
|
|
| Arteriovenous Malformation |
|
|
| Aortic Valve Disease 2 |
|
|
| Autoimmune Disease Of Cardiovascular System |
|
|
| Capillary Lymphangioma |
|
|
| Mitral Valve Stenosis |
|
|
| Deafness, Autosomal Dominant 9 |
|
|
| Thrombocytopenia Due To Platelet Alloimmunization |
|
|
| Heart Valve Disease |
|
|
| Peripheral Artery Disease |
|
|
| Hemolytic Uremic Syndrome, Atypical 1 |
|
|
| Intermediate Coronary Syndrome |
|
|
| Long Covid |
|
|
| Severe Covid-19 |
|
|
| Diabetic Angiopathy |
|
|
| Transient Cerebral Ischemia |
|
|
| Cavernous Hemangioma |
|
|
| Peptic Ulcer Disease |
|
|
| Blood Protein Disease |
|
|
| Coronavirus Infectious Disease |
|
|
| Autoimmune Disease Of Blood |
|
|
| Aortic Disease |
|
|
| Mitral Valve Disease |
|
|
| Infiltrating Angiolipoma |
|
|
| Pyogenic Granuloma |
|
|
| Diabetes Mellitus |
|
|
| Chronic Kidney Disease |
|
|
| Scoliosis |
|
|
| Budd-Chiari Syndrome |
|
|
| Patent Foramen Ovale |
|
|
| Complement Component 2 Deficiency |
|
|
| Heart Conduction Disease |
|
|
| Sickle Cell Anemia |
|
|
| Moyamoya Disease 1 |
|
|
| Respiratory Failure |
|
|
| Stickler Syndrome, Type I |
|
|
| Intracranial Berry Aneurysm |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Atrial Heart Septal Defect |
|
|
| Deficiency Anemia |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Behcet Syndrome |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Nervous System Disease |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | VWF | RGD | RGD:621759 |
| Canis familiaris | VWF | VGNC | VGNC:48329 |
| Mus musculus | VWF | MGD | MGI:98941 |
| Bos taurus | VWF | VGNC | VGNC:36860 |
| Felis catus | VWF | VGNC | VGNC:97686 |
| Macaca mulatta | VWF | VGNC | VGNC:78778 |
| Others | VWF | NCBI |