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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: VHL
Protein SuperFamily: von Hippel-Lindau disease tumor suppressor protein
Gene Tree: Vhl

Human
homologs
VHL, von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 7428
neXtProt AC: NX_P40337

Human Synonyms: HRCA1, pVHL, RCA1, VHL1

Human Chr (Location): 3p25.3; chr3:10141635-10153670 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human VHL

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(3) Spontaneous(1) Targeted(10)
Genomic Mutations involving Vhl (1)
Incidental mutations (data from CvDC )
 
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 in Mice Using Vhl (3)    Mutations 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: (49 annotations)
Process angiogenesis, blood vessel endothelial cell migration, ...
Component cell, cilium, ...
Function enzyme binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (71)    Tissues (60)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 71
cDNA source data(16)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase vhl ; ZFIN vhl    NEW 
Molecular
reagents
All nucleic(24) Genomic(6) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000024147 (Evidence)
Ensembl Gene Model ENSMUSG00000033933 (Evidence)
Entrez Gene 22346 (Evidence)
DFCI TC1668543, TC1576914
DoTS DT.87042640, DT.490812
NIA Mouse Gene Index U007278
PDB 1HV2
Consensus CDS Project CCDS20429.1
International Mouse Phenotyping Consortium Status Vhl
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:218958 Zhang LF, et al., Osteoblast-secreted factors promote proliferation and osteogenic differentiation of bone marrow stromal cells via VEGF/heme-oxygenase-1 pathway. PLoS One. 2014;9(6):e99946
All references(150)
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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory