Gene

vhl

ID
ZDB-GENE-070112-1042
Name
von Hippel-Lindau tumor suppressor
Symbol
vhl Nomenclature History
Previous Names
  • zgc:158722 (1)
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Involved in several processes, including hemopoiesis; pronephric duct development; and regulation of vascular endothelial growth factor receptor signaling pathway. Predicted to localize to VCB complex and nucleus. Used to study clear cell renal cell carcinoma; familial erythrocytosis 2; and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including pancreatic cancer (multiple); pheochromocytoma; polycythemia (multiple); renal cell carcinoma; and von Hippel-Lindau disease. Is expressed in several structures, including lateral mesoderm; liver; nervous system; otic vesicle; and pleuroperitoneal region. Orthologous to human VHL (von Hippel-Lindau tumor suppressor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
52 figures from 16 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With vhl Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial erythrocytosis 2 Alliance Erythrocytosis, familial, 2 263400
nonpapillary renal cell carcinoma Alliance Renal cell carcinoma, somatic 144700
pheochromocytoma Alliance Pheochromocytoma 171300
von Hippel-Lindau disease Alliance von Hippel-Lindau syndrome 193300
Hemangioblastoma, cerebellar, somatic
Associated With vhl Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR022772 von Hippel-Lindau disease tumour suppressor, beta/alpha domain
Domain IPR024048 von Hippel-Lindau disease tumour suppressor, alpha domain
Domain IPR024053 von Hippel-Lindau disease tumour suppressor, beta domain
Family IPR002714 von Hippel-Lindau tumour suppressor protein
Homologous_superfamily IPR036208 VHL superfamily
Homologous_superfamily IPR037139 von Hippel-Lindau disease tumour suppressor, alpha domain superfamily
Homologous_superfamily IPR037140 von Hippel-Lindau disease tumour suppressor, beta domain superfamily
Domain Details Per Protein
Protein Length VHL superfamily von Hippel-Lindau disease tumour suppressor, alpha domain von Hippel-Lindau disease tumour suppressor, alpha domain superfamily von Hippel-Lindau disease tumour suppressor, beta/alpha domain von Hippel-Lindau disease tumour suppressor, beta domain von Hippel-Lindau disease tumour suppressor, beta domain superfamily von Hippel-Lindau tumour suppressor protein
UniProtKB:F1QY17 175
UniProtKB:A1L296 175
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-vhl monoclonal Mouse
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations