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; chr3:10183319-10195354 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human VHL

Alleles and phenotypes

All alleles(12) : Targeted(9) Gene trapped(3)
 

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 (2)    Alleles Annotated to Human Diseases(7)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	angiogenesis, blood vessel endothelial cell migration, ...
Component	cytoplasm, cytosol, ...
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 Type	Results
RNA in situ	71

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1576914, TC1668543
DoTS	DT.490812, DT.87042640
NIA Mouse Gene Index	U007278
Consensus CDS Project	CCDS20429.1
International Mouse Knockout Project Status	Vhl

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024147	VEGA Gene Model | MGI Sequence Detail	7675	C57BL/6J
transcript	OTTMUST00000059073	VEGA | MGI Sequence Detail	2792	Not Applicable
polypeptide	OTTMUSP00000028703	VEGA | MGI Sequence Detail	181	Not Applicable

All sequences(31) RefSeq(2) UniProt(2)

Polymorphisms

PCR(1) : SNPs within 2kb(109 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:194930 Takubo K, et al., Regulation of glycolysis by Pdk functions as a metabolic checkpoint for cell cycle quiescence in hematopoietic stem cells. Cell Stem Cell. 2013 Jan 3;12(1):49-61
All references(132)

Other accession IDs

MGD-MRK-24093