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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. VHL, Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Sequence ID:NM_000551
NM_198156
RefSeqGene ID:NG_008212
Entrez Gene ID:7428
Ensembl ID:ENSG00000134086

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ERYTHROCYTOSIS, FAMILIAL, 2 
PHEOCHROMOCYTOMAGDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
TMEM127
RENAL CARCINOMA, CHROMOPHOBE, SOMATICDIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VON HIPPEL-LINDAU DISEASE, MODIFICATION OFCCND1

Cytogenetic Location (from UniGene)

Cytogenetic Location:3p25.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 10193473 - 10194799

 Exon Info From UCSC:
NM_000551
NM_198156

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6457060Full LengthBC058831von Hippel-Lindau tumor suppressor

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000542  NP_937799  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000551 NP_000542 P40337 VHL
NM_198156 NP_937799   VHL

Related Sequences

 
mRNAGenPeptSwissProt
BC027957 AAH27957 A0PJF6
BC058831 AAH58831 P40337
AK315799 BAG38142 P40337
AK304002 BAG64919 B4E1V7

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens VHL NP_000542 M.musculus Vhl 22346 Gene Info NP_033533 89
R.norvegicus Vhl 24874   NP_434688 89

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta