Harmonizome 3.0

von Willebrand factor

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]

Modifier of von Willebrand factor

von Willebrand factor A domain containing 8

Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 7

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 2

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

von Willebrand factor A domain containing 1

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]

von Willebrand factor A domain containing 3B

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]

von Willebrand factor A domain containing 3A

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]

von Willebrand factor D and EGF domains

Predicted to enable signaling receptor binding activity. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

von Hippel-Lindau tumor suppressor-like

Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010]

von Willebrand factor A domain containing 5B2 pseudogene

von Willebrand factor C domain containing 2

This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

von Willebrand factor C domain containing protein 2-like

Predicted to be involved in negative regulation of BMP signaling pathway. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region and synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 5B2

von Willebrand factor A domain containing 5B1

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor pseudogene 1

von Hippel-Lindau binding protein 1

The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015]

von Willebrand factor C and EGF domains

Predicted to enable calcium ion binding activity. Predicted to be involved in cellular response to virus. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 9

Predicted to be involved in snRNA 3'-end processing. Located in cytoplasm. Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 5A

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain-containing protein 3A