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
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 53 figures from 17 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
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 |
---|---|---|---|---|---|---|---|
UniProtKB:A1L296
|
175 |
Interactions and Pathways
No data available
Plasmids
No data available