VHL Back

von Hippel-Lindau tumor suppressor

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of VHL
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 target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Community Annotation of VHL Add / Edit VHL: Annotations

No community annotations yet for VHL.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

VHL is highly significantly mutated in
Kidney clear cell
KIRC
228 patients (54%)
combined cohort
PanCan
235 patients (4%)
VHL is significantly mutated in
VHL is near significance in

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for VHL