Gene Gene information from NCBI Gene database.
Entrez ID 7428
Gene name Von Hippel-Lindau tumor suppressor
Gene symbol VHL
Synonyms (NCBI Gene)
HRCA1RCA1VHL1pVHL
Chromosome 3
Chromosome location 3p25.3
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 thi
SNPs SNP information provided by dbSNP.
222
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.
1395
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 assayqRT-PCR 23353819
MIRT054398 hsa-miR-21-5p ImmunofluorescenceImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot 24012640
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIF1A Unknown 12205091;15962286;17140440
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608537 12687 ENSG00000134086
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
67
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar hemangioblastoma Pathogenic rs5030826, rs1575932266 RCV000626711
RCV000855722
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chuvash polycythemia Likely pathogenic; Pathogenic rs1487408934, rs1696266503, rs869025667, rs5030805, rs2125125103, rs2125125105, rs2125125269, rs2125128363, rs2125130543, rs2125128327, rs1214305423, rs587780077, rs869025616, rs2125128340, rs869025657
View all (154 more)
RCV001322991
RCV001317824
RCV001377066
RCV001382228
RCV001384689
View all (204 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney Pathogenic; Likely pathogenic rs869025657, rs730882032, rs869025637, rs5030826, rs5030816, rs5030817, rs1575927648, rs5030814 RCV005925360
RCV005888583
RCV005928672
RCV005893810
RCV005893811
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial infantile myasthenia Pathogenic rs5030818 RCV001280922
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute leukemia of ambiguous lineage Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Au-Kline syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE SECONDARY POLYCYTHEMIA NOT ASSOCIATED WITH VHL GENE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Leukemia of Ambiguous Lineage Leukemia Of Ambiguous Lineage CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12899712
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10415852, 12518864, 18607865
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18162774
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of ampulla of Vater Adenocarcinoma GENOMICS_ENGLAND_DG 27899189
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 25715769
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21556796
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 11493766, 16387411, 19733897, 24629521
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma CTD_human_DG 16061637
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 8617456, 9171996, 9258657, 9327728, 9744312
★☆☆☆☆
Found in Text Mining only