VHL
Summary: 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. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:608537 Ensembl IDEnsembl:ENSG00000134086 HGNC IDHGNC:HGNC:12687 PHARMGKB IDPA37307 Map Location3p25.3 | |||||
GO terms in VHL
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IBA | GO:0061630 | ubiquitin protein ligase activity |
| MF | IDA | GO:0061630 | ubiquitin protein ligase activity |
Gene expression in normal tissue: VHL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in VHL
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1234174 | Regulation of Hypoxia-inducible Factor (HIF) by oxygen |
| reactome | R-HSA-1234174 | Regulation of Hypoxia-inducible Factor (HIF) by oxygen |
| reactome | R-HSA-1234176 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha |
| reactome | R-HSA-1234176 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168256 | Immune System |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in VHL
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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