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von Hippel-Lindau tumor suppressor

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This 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. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a ...

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Data Correlations | 1,035 studies

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Tissues category icon Normal tissues
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Subdivision of nucle… 100 100
Locus ceruleus 100 100
Lateral nuclear grou… 98 98
Thyroid gland 98 98
Caudate nucleus 96 96
Cecum 96 96
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Compounds category icon Compounds
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Oxfendazole 100 100
Piperine 90 90
C14209 88 88
Gemcitabine 86 86
Molindone 85 85
Nystatin 84 84
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Diseases category icon Diseases
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Von Hippel-Lindau sy… 100 100
Hemangioma 99 99
Pheochromocytoma 99 99
Erythrocytosis 98 98
Neoplasm of kidney 98 98
Juvenile idiopathic … 72 72
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Individual Studies

  • Cancer census - gene mutations in cancer and other diseases

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    The Cancer Gene Census is an ongoing effort to catalogue those genes for which mutations have been causally implicated in cancer. The original census and analysis was published in Nature Reviews Cancer

    Authors: P Andrew Futreal, Lachlan Coin, Mhairi Marshall et al.

    Organization: Cancer Genome Project, Human Genome Anal…

  • Mouse Phenotypes - Multisystem disorder

    score: 100100 | Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving VHL.

View All Author iconAuthors
  • William G Kaelin
  • Wilhelm Krek
  • Gregg L Semenza
  • Judith Frydman
  • William Y Kim
View All Clinical trial sponsors icon Clinical Trials Sponsors
  • National Cancer Institute (NCI)
  • National Eye Institute (NEI)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • M.D. Anderson Cancer Center
  • Novartis Pharmaceuticals
View All Affiliations icon Organizations
  • Johns Hopkins University School of Medicine
  • Institute of Cell Biology
  • Stanford University
  • Dana-Farber Cancer Institute and Brigham and Women's Hospital
  • University of Pennsylvania School of Medicine

Community

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