ZFIN ID: ZDB-GENE-070112-1042
Gene Name: von Hippel-Lindau tumor suppressor
Gene Symbol: vhl    Nomenclature History

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Previous Name: zgc:158722 (1)

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(Including Attributions)
Gene 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. Is expressed in several structures, including lateral mesoderm; liver; nervous system; otic vesicle; and pleuroperitoneal region. 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. Orthologous to human VHL (von Hippel-Lindau tumor suppressor).
Genome Resources: Alliance (1),  Gene:791202 (1),  Ensembl(GRCz11):ENSDARG00000070617 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hu2081 Point Mutation Unknown Premature Stop ENU
hu2117 Point Mutation Unknown Premature Stop ENU
ihb2015001 Small Deletion Exon 1 Unknown TALEN
ihb2015002 Insertion Exon 1 Unknown TALEN
sa40757 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-vhl N/A 2
    MO2-vhl N/A 3
    MO3-vhl N/A 1
    TALEN1-vhl 1
    PHENOTYPE
    Data: 39 figures from 13 publications
    Observed in:
    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
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process angiogenesis (more)
    Cellular Component nucleus (more)
    GO Terms (all 12)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA vhl-201 (1)    Ensembl 1184
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-vhl monoclonal Mouse WB 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM vhl No data available
    MARKER RELATIONSHIPS
    vhl Contained in: [BAC] DKEY-28N18 (1) (order this)
    vhl Encodes: [cDNA] MGC:158722 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001080684 (1) 1165 nt
    Genomic GenBank:BX936393 (1) 204873 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A1L296 (1) 175 aa
    Sequence Information (all 9)
    ORTHOLOGY for vhl ( Chr: 6 )
    CITATIONS (50)