VHL von Hippel-Lindau tumor suppressor

Gene ID: 7428, updated on 5-May-2024
Gene type: protein coding
Also known as: RCA1; VHL1; pVHL; HRCA1

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 MedGen: C1837915OMIM: 263400GeneReviews: Not available	See labs
Nonpapillary renal cell carcinoma MedGen: CN074294OMIM: 144700GeneReviews: Not available	See labs
Pheochromocytoma MedGen: C0031511OMIM: 171300GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes	See labs
Von Hippel-Lindau syndrome MedGen: C0019562OMIM: 193300GeneReviews: Von Hippel-Lindau Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-05-11) ClinGen Genome Curation Page Haploinsufficency 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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