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ZIRC
ZFIN ID: ZDB-GENE-070112-1042
Gene Name: von Hippel-Lindau tumor suppressor
Gene Symbol: vhl
Sequence Ontology ID : SO:0000704

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Previous Name: zgc:158722 (1)

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(Including Attributions)
Location: Chr: 6 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have ubiquitin protein ligase activity. Involved in several processes, including hemopoiesis; pronephric duct development; and regulation of vascular endothelial growth factor receptor  ...
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)
  • Targeting reagents:
    PHENOTYPE
    Data: 38 figures from 12 publications
    Observed in:
    DISEASE ASSOCIATED WITH vhl HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    familial erythrocytosis 2 Erythrocytosis, familial, 2 263400
    nonpapillary renal cell carcinoma Renal cell carcinoma, somatic 144700
    pheochromocytoma Pheochromocytoma 171300
    von Hippel-Lindau disease von Hippel-Lindau syndrome 193300
    Hemangioblastoma, cerebellar, somatic
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process angiogenesis (more)
    Cellular Component nucleus (more)
    Molecular Function ubiquitin protein ligase activity (more)
    GO Terms (all 12)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA vhl-201 (1) 1184
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM vhl No data available
    MARKER RELATIONSHIPS
    vhlContained in: [BAC] DKEY-28N18 (1) (order this)
    vhlEncodes: [cDNA] MGC:158722 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001080684 (1) 1165bp
    Genomic GenBank:BX936393 (1) 204873bp Blast at MegaBLAST
    Polypeptide UniProtKB:A1L296 (1) 175aa
    Sequence Clusters UniGene:90467 (1)
    Sequence Information (all 10)
    ORTHOLOGY for vhl (Chr: 6)
    CITATIONS (48)