AlphaFold predicted structure
VHL · P40337
Mean pLDDT
84.4/ 100
Confident
213 residues
Confidence breakdown
- Very high(≥ 90)70%
- Confident(70–90)3%
- Low(50–70)14%
- Very low(< 50)13%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
VHL
Chr 3p25.3von Hippel-Lindau tumor suppressor
- Aliases:
- VHL1
- MANE:
- ENST00000256474.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Additional findings health related
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdditional findings health related - children
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdditional findings health related - CNV analysis children
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
von Hippel-Lindau disease
0.89Chuvash polycythemia
0.78pheochromocytoma
0.76hereditary pheochromocytoma-paraganglioma
0.73Chuvash erythrocytosis
0.72clear cell renal carcinoma
0.65nonpapillary renal cell carcinoma
0.59hereditary neoplastic syndrome
0.57Inherited cancer-predisposing syndrome
0.57renal cell carcinoma
0.54
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
von Hippel-Lindau disease tumor suppressor
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:17981124). Ubiquitinates, in an oxygen-responsive manner, ADRB2 (PubMed:19584355). Acts as a negative regulator of mTORC1 by promoting ubiquitination and degradation of RPTOR (PubMed:34290272)
Diseases associated with VHL
Curated MONDO disease pages that list VHL among their top associated genes.