VHL (von Hippel-Lindau disease tumour suppressor) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Neuroendocrine tumours, Breast cancer and 5 more. This dossier gathers the 0 products (0 approved), 0 trials, 0 pathways and 0 resistance routes in the corpus that involve it, with external identifiers so it can be joined to UniProt, ChEMBL, Open Targets and the rest of biology.
Biology
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2. Acts as a negative regulator of mTORC1 by promoting ubiquitination and degradation of RPTOR. Location: Cytoplasm; Cell membrane; Endoplasmic reticulum; Nucleus (UniProt). Locus 3p25.3 (HGNC).
- Renal cell carcinoma: Open Targets association 0.81 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease
- Neuroendocrine tumours: Open Targets association 0.77 with neuroendocrine neoplasm (MONDO_0019496)
- Breast cancer: CIViC evidence names this disease
- Pancreatic ductal adenocarcinoma: CIViC evidence names this disease
- Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)
- Clear cell renal cell carcinoma: CIViC evidence names this disease; IntOGen driver in 4 cohorts (CCRCC)
External identifiers
Built from HGNC, Ensembl, UniProt and ChEMBL idsProducts by modality and phase
Browse products →No product in the corpus is aimed at this target yet.
Trials
Evidence ranking →No trial in the corpus names this target or one of its products.
Resistance routes
Unaddressed routes →The resistance atlas has no route that names this target.
Pathways
Pathway-to-drug matrix →No pathway diagram carries this target as a node.
Companion diagnostics
Assay registry →No companion diagnostic in the registry measures this target.
Preclinical models
All models →No model entry for this target yet; check the cancer entries on the models page.
Open questions
All open questions →No open questions recorded for this target yet. Suggest one.
Literature
Preprints →Query for this target: (TITLE:"VHL" OR ABSTRACT:"VHL" OR TITLE:"von Hippel-Lindau tumor suppressor" OR ABSTRACT:"von Hippel-Lindau tumor suppressor" OR TITLE:"von Hippel-Lindau disease tumor suppressor" OR ABSTRACT:"von Hippel-Lindau disease tumor suppressor" OR TITLE:"VHL1" OR ABSTRACT:"VHL1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about VHL, not a curated reading list.
Export
The dossier as machine-readable JSON: identifiers from HGNC, Ensembl, UniProt and ChEMBL, products with status, trials, pathways, hotspots, open questions and assays. The full entity record is in the open API at /api/v1/entities/vhl.json. Licence CC BY-NC 4.0.