VHL von Hippel-Lindau tumor suppressor
Gene ID: 7428, updated on 28-Oct-2024Gene type: protein coding
Also known as: RCA1; VHL1; pVHL; HRCA1
- See all available tests in GTR for this gene
- Go to complete Gene record for VHL
- Go to Variation Viewer for VHL variants
Summary
This gene encodes a component of a ubiquitination complex. The encoded 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. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chuvash polycythemia | not available |
| Nonpapillary renal cell carcinoma | not available |
| Pheochromocytoma | not available |
| Von Hippel-Lindau syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-05-11) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 3p25.3
- Sequence:
- Chromosome: 3; NC_000003.12 (10141778..10153667)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VHL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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