VHL

von Hippel-Lindau tumor suppressor

Ensembl:
ENSG00000134086
UniProt:
P40337
OMIM:
608537
Synonyms:
VHL1

Cilia effects upon perturbation of VHL

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
No effect

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.68) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.51) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
clear cell renal carcinoma; adrenal gland pheochromocytoma; nonpapillary renal cell carcinoma; renal cell carcinoma

Ciliopathy associations

  • Renal Cell Carcinoma

Subcellular localization

axoneme, basal body, cilia, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Transcription regulation

Function

MIM: 193300, MIM: 144700, MIM: 171300, MIM: 263400, Somatic i ctivation of VHL causes re l and pancreatic cysts associated with cilia loss. Stabilises microtubule dy mics in the axoneme (17450132). Interacts with KIF3A and kinesin.