Overview

Location [1]
3p25.3
Protein [2]
von Hippel-Lindau disease tumor suppressor
Synonyms [1]
pVHL, HRCA1, RCA1, VHL1

Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) is a gene that encodes a member of a protein complex with ubiquitin ligase activity. The protein functions in ubiquitination and degradation of a transcription factor that regulates gene expression. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as intestinal cancer, kidney cancer, and cancer of the paratesticular tissues.

VHL is altered in 1.33% of all cancers with clear cell renal cell carcinoma, renal cell carcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

VHL GENIE Cases - Top Diseases

The most common alterations in VHL are VHL Mutation (1.77%), VHL Amplification (0.13%), VHL Deletion (0.08%), VHL Loss (0.03%), and VHL F148Lfs*11 (0.03%) [3].

VHL GENIE Cases - Top Alterations

Significance of VHL in Diseases

Renal Cell Carcinoma +

Malignant Solid Tumor +

Von Hippel-Lindau Syndrome +

Adrenal Gland Pheochromocytoma +

Pancreatic Neuroendocrine Neoplasm +

Bladder Carcinoma +

Melanoma +

Colorectal Carcinoma +

Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Malignant Uterine Neoplasm +

Ovarian Carcinoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cerebellar Hemangioblastoma +

Cervical Carcinoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Multiple Myeloma +

Paraganglioma +

Retinal Hemangioblastoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.