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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4691
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar hemangioblastoma Pathogenic rs5030826, rs1575932266 RCV000626711
RCV000855722
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
RCV001383594
RCV001389890
RCV001381653
RCV001383309
RCV003771754
RCV003771867
RCV001854559
RCV001929631
RCV002034406
RCV001972698
RCV002002254
RCV002007406
RCV001956145
RCV000703889
RCV000627745
RCV000791367
RCV000627746
RCV000466046
RCV000698407
RCV000684783
RCV001851578
RCV000475973
RCV005222659
RCV000002317
RCV000002318
RCV001231697
RCV000002323
RCV001851579
RCV000698471
RCV001052383
RCV001059327
RCV003775806
RCV005213662
RCV003765009
RCV001389259
RCV001382230
RCV001382231
RCV000817709
RCV001850279
RCV001072084
RCV000687350
RCV000456958
RCV001388392
RCV001388793
RCV003774614
RCV003097354
RCV000796988
RCV002651638
RCV002651639
RCV002651640
RCV003765094
RCV002797091
RCV002863461
RCV002877178
RCV002908478
RCV002996158
RCV003017971
RCV001064921
RCV003057752
RCV003054800
RCV000204033
RCV000456132
RCV001036535
RCV001213116
RCV001389820
RCV001382227
RCV001218191
RCV000805326
RCV000803184
RCV000631258
RCV000537014
RCV001035237
RCV001218807
RCV001379601
RCV002517414
RCV001204150
RCV000631262
RCV003765349
RCV001044454
RCV001034627
RCV001221660
RCV001379374
RCV000801501
RCV000687965
RCV000469600
RCV000631281
RCV000692586
RCV000706591
RCV001387330
RCV001853329
RCV002515564
RCV000824251
RCV001853330
RCV001061348
RCV000226031
RCV000792769
RCV005396678
RCV000805034
RCV001377065
RCV003765350
RCV001382229
RCV005216015
RCV001859534
RCV005216033
RCV001859684
RCV003466537
RCV003782866
RCV003783043
RCV003780996
RCV003780998
RCV003781000
RCV003781001
RCV003781002
RCV003781367
RCV003792213
RCV003806974
RCV003805279
RCV003800520
RCV003800681
RCV003801970
RCV003817926
RCV003813709
RCV003815631
RCV003807570
RCV003812589
RCV003807263
RCV000462489
RCV000474557
RCV000474133
RCV000803035
RCV001201718
RCV002525827
RCV005222956
RCV000631269
RCV000801496
RCV000705307
RCV000631291
RCV000558602
RCV001384431
RCV000538803
RCV001034657
RCV000816283
RCV005222710
RCV000533687
RCV001858152
RCV001224534
RCV001046833
RCV001853983
RCV005223019
RCV000631289
RCV000631292
RCV002530908
RCV001060967
RCV001044333
RCV003767339
RCV000631284
RCV000631271
RCV000631264
RCV000631276
RCV001219547
RCV001379599
RCV000763091
RCV000631280
RCV001067480
RCV002513389
RCV002531399
RCV000704506
RCV000707314
RCV000707336
RCV000688156
RCV000685144
RCV000690034
RCV001222557
RCV001855883
RCV001382402
RCV001869052
RCV001220559
RCV000821822
RCV003768302
RCV002533922
RCV002536594
RCV002536595
RCV001039507
RCV001068352
RCV000812797
RCV000822511
RCV000804483
RCV000792121
RCV001007627
RCV001216349
RCV003467657
RCV001051596
RCV001069048
RCV001061553
RCV001042529
RCV001220866
RCV001221169
RCV001224455
RCV001205532
RCV001248335
RCV001246640
RCV001034687
RCV001227827
RCV000818637
Clear cell carcinoma of kidney Pathogenic; Likely pathogenic rs869025657, rs730882032, rs869025637, rs5030826, rs5030816, rs5030817, rs1575927648, rs5030814 RCV005925360
RCV005888583
RCV005928672
RCV005893810
RCV005893811
RCV005893812
RCV005893816
RCV005893814
RCV005893815
RCV005927708
RCV005901651
Familial infantile myasthenia Pathogenic rs5030818 RCV001280922
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute leukemia of ambiguous lineage Conflicting classifications of pathogenicity rs28940298 RCV000722031
Acute myeloid leukemia Benign; Likely benign rs61758376 RCV005888814
Au-Kline syndrome Uncertain significance rs5030824 RCV003330076
Cervical cancer Benign; Likely benign rs61758376 RCV005888815
Associations from Text MiningDisease 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