Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7428
Gene name Gene Name - the full gene name approved by the HGNC.
Von Hippel-Lindau tumor suppressor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VHL
Synonyms (NCBI Gene) Gene synonyms aliases
HRCA1, RCA1, VHL1, pVHL
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 thi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs5030622 C>A,G Pathogenic, uncertain-significance, likely-pathogenic Coding sequence variant, stop gained, 3 prime UTR variant, missense variant
rs5030648 TCT>- Pathogenic Coding sequence variant, inframe deletion
rs5030802 G>A,T Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic Coding sequence variant, stop gained, missense variant
rs5030804 A>C,G,T Pathogenic, uncertain-significance, likely-pathogenic Coding sequence variant, missense variant
rs5030805 G>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007006 hsa-miR-23b-3p SNB19 22649212
MIRT023372 hsa-miR-122-5p Microarray 17612493
MIRT030519 hsa-miR-24-3p Microarray 19748357
MIRT053028 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR 23353819
MIRT054398 hsa-miR-21-5p Immunofluorescence, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot 24012640
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 12205091;15962286;17140440
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11641274
GO:0000902 Process Cell morphogenesis NAS 12169691
GO:0001666 Process Response to hypoxia IEA
GO:0003711 Function Transcription elongation factor activity IDA 7660122
GO:0004842 Function Ubiquitin-protein transferase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608537 12687 ENSG00000134086
Protein
UniProt ID P40337
Protein name von Hippel-Lindau disease tumor suppressor (Protein G7) (pVHL)
Protein function 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 c
PDB 1LM8 , 1LQB , 1VCB , 3ZRC , 3ZRF , 3ZTC , 3ZTD , 3ZUN , 4AJY , 4AWJ , 4B95 , 4B9K , 4BKS , 4BKT , 4W9C , 4W9D , 4W9E , 4W9F , 4W9G , 4W9H , 4W9I , 4W9J , 4W9K , 4W9L , 4WQO , 5LLI , 5N4W , 5NVV , 5NVW , 5NVX , 5NVY , 5NVZ , 5NW0 , 5NW1 , 5NW2 , 5T35 , 6BVB , 6FMI , 6FMJ , 6FMK , 6GFX , 6GFY , 6GFZ , 6GMN , 6GMQ , 6GMR , 6GMX , 6HAX , 6HAY , 6HR2 , 6I7Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01847 VHL 63 144 VHL beta domain Domain
PF17211 VHL_C 156 204 VHL box domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the adult and fetal brain and kidney.
Sequence
Sequence length 213
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  HIF-1 signaling pathway
Ubiquitin mediated proteolysis
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
SUMOylation of ubiquitinylation proteins
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pheochromocytoma pheochromocytoma rs864321641, rs864321642, rs5030821, rs104893826, rs864321640, rs5030820, rs5030808, rs864321643 N/A
Von Hippel-Lindau Syndrome von hippel-lindau syndrome rs397516444, rs1553619993, rs5030823, rs869025657, rs869025619, rs1559428164, rs1559429736, rs730882032, rs5030833, rs5030809, rs869025666, rs869025625, rs869025634, rs869025646, rs5030805
View all (146 more)
N/A
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma rs193922610 N/A
Myasthenia Gravis familial infantile myasthenia rs5030818 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
AU-KLINE Syndrome au-kline syndrome N/A N/A ClinVar
Bullous Pemphigoid Bullous pemphigoid N/A N/A GWAS
Enchondromatosis enchondromatosis N/A N/A ClinVar
Erythrocytosis Congenital Erythrocytosis N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Inhibit 24149047
Abnormalities Drug Induced Associate 36480544
Adenocarcinoma Associate 23478628
Adenoma Associate 11141506
Adenoma Oxyphilic Associate 31773698, 34767027
Adenomatous Polyposis Coli Associate 23867514
Anemia Associate 21606165
Anemia Sickle Cell Associate 24515990
Angiomyolipoma Associate 34767027
Astrocytoma Associate 15367334