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Vhl
Gene Detail
 Symbol
Name
ID
Vhl
von Hippel-Lindau tumor suppressor
MGI:103223
Synonyms pVHL, Vhlh
Feature Type protein coding gene
Genetic Map
Chromosome 6
52.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr6:113623959-113631633 bp, + strand
From VEGA annotation of GRCm38

  7675 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:465  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: von Hippel-Lindau disease tumor suppressor protein
Gene Tree: Vhl

Human
homologs
Human Homolog VHL, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
NCBI Gene ID 7428
neXtProt AC  NX_P40337
Human Synonyms  HRCA1, pVHL, RCA1, VHL1
Human Chr (Location)  3p25.3; chr3:10141635-10153670 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human VHL
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(3) Targeted(10)
 
Inactivation of this locus leads to defects similar to those seen in patients with von Hippel-Lindau disease. Abnormalities observed include hepatic and vasculature defects. Homozygozity for null mutations results in embryonic lethality.
 
Human Diseases Modeled Using Mouse Vhl (3)    Alleles Annotated to Human Diseases(7)    Phenotype Images(4)
Interactions
Vhl interacts with 213 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process angiogenesis, blood vessel endothelial cell migration, ...
Component cilium, cytoplasm, ...
Function enzyme binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (71)    Tissues (60)    Images (4)
Theiler Stages: 17, 21, 24, 28
Assay TypeResults
RNA in situ 71
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(6) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000024147 (Evidence)
Ensembl Gene ModelENSMUSG00000033933 (Evidence)
Entrez Gene22346 (Evidence)
DFCITC1576914, TC1668543
DoTSDT.490812, DT.87042640
NIA Mouse Gene IndexU007278
PDB1HV2
Consensus CDS ProjectCCDS20429.1
International Mouse Knockout Project StatusVhl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024147 VEGA Gene Model | MGI Sequence Detail 7675 C57BL/6J ±  kb
transcript OTTMUST00000059073 VEGA | MGI Sequence Detail 2792 Not Applicable 
polypeptide OTTMUSP00000028703 VEGA | MGI Sequence Detail 181 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(2) UniProt(2)
Polymorphisms PCR(1) : SNPs within 2kb(109 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002714 Tumour suppressor protein, von Hippel-Lindau disease
InterPro IPR024048 von Hippel-Lindau disease tumor suppressor, alpha domain
InterPro IPR024053 von Hippel-Lindau disease tumor suppressor, beta domain
InterPro IPR022772 von Hippel-Lindau disease tumour suppressor, beta/alpha domain
Protein Ontology PR:000017294 von Hippel-Lindau disease tumor suppressor
References (Earliest) J:22926 Gao J, et al., Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene. Cancer Res. 1995 Feb 15;55(4):743-7
(Latest) J:209149 Hell MP, et al., miR-28-5p Promotes Chromosomal Instability in VHL-Associated Cancers by Inhibiting Mad2 Translation. Cancer Res. 2014 May 1;74(9):2432-43
All references(146)
Disease annotation references (11)
Other
accession IDs
MGD-MRK-24093

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory