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FLASH GENE
Symbol VHL contributors: mct/shn - updated : 13-07-2018
HGNC name von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
HGNC id 12687
ASSOCIATED DISORDERS
corresponding disease(s) VHL , RCC1 , ECYT2
related resource VonHippel-Lindau disease
von Hippel-Lindau disease germline mutation database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in pheochromocytomas (in VHL, not sporadic)
tumoral     --low  
leading to constitutively elevated cyclin D1 and abnormal proliferation
tumoral somatic mutation      
in clear cell renal carcinoma associated with end-stage renal disease/acquired cystic disease
tumoral       loss of function
in kidney carcinoma, disrupting iron homeostasis in renal carcinoma cells
tumoral somatic mutation      
confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma
tumoral       loss of function
central role of VHL inactivation in the molecular pathogenesis of both familial and sporadic hemangioblastomas
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • extracellular fibronectin matrix assembly by VHL-/- mouse embryos and mouse embryo fibroblasts (MEFs)was grossly impaired (
  • loss of DVhl in Drosophila resulted in an ventral midline defect (
  • deletion of the Von Hippel-Lindau gene (Vhlh) from intrinsic glomerular cells of mice is sufficient to initiate a necrotizing crescentic glomerulonephritis and the clinical features that accompany rapidly progressive glomerulonephritis (
  • murine embryonic depletion of Vhlh within the pancreatic epithelium causes postnatal lethality due to severe hypoglycemia
  • mice homozygous for the R200W mutation developed polycythemia (
  • Vhlh-deficient mice exhibited diminished glucose-stimulated changes in cytoplasmic Ca(2+) concentration, electrical activity, and insulin secretion, which culminate in impaired systemic glucose tolerance (
  • Vhl(2B/2B) mice displayed mid-gestational embryonic lethality, whereas adult Vhl(2B/+) mice exhibited susceptibility to carcinogen-promoted renal neoplasia (
  • pVHL-deficient RCC 786-O cells were multinucleated and polyploid (