VHL Gene
protein-coding GIFtS: 67
GCID: GC03P010185
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von Hippel-Lindau tumor suppressor, E3 ubiquitin protein...(Previous names: von Hippel-Lindau syndrome, von Hippel-Lindau tumor suppressor...)
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Aliases
for VHL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase1 2 | | Von Hippel-Lindau Tumor Suppressor1 | | VHL11 2 | | HRCA12 | | Protein G72 3 | | RCA12 | | PVHL1 | | Elongin Binding Protein2 | | Von Hippel-Lindau Syndrome1 | | Von Hippel-Lindau Disease Tumor Suppressor2 |
Export aliases for VHL gene to outside databasesPrevious GC identifers: GC03P010112 GC03P010175 GC03P010158 GC03P010183 GC03P010119 |
Summaries
for VHL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for VHL:
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety ofmalignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome.The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, andcullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradationof hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of geneexpression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein.Alternatively spliced transcript variants encoding distinct isoforms have been observed. (provided by RefSeq, Jul2008)
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337Function: Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindauubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruitshydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression throughinteraction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2
Gene Wiki entry for VHL (Von Hippelâ€"Lindau tumor suppressor)
|
Genomic Views
for VHL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the VHL gene promoter:
HOXA9 HOXA9B FAC1 p53 MIF-1 Ik-1 C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for VHL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VHL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p25.3 Ensembl cytogenetic band: 3p25.3 HGNC cytogenetic band: 3p25.3VHL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P010185: view genomic region
(about GC identifiers)
Start:
|
10,182,692 bp from pter |
End:
|
10,193,904 bp from pter |
Size:
|
11,213 bases |
Orientation:
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plus strand |
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Proteins
for VHL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337 (See
protein sequence)Recommended Name: Von Hippel-Lindau disease tumor suppressor Size: 213 amino acids; 24153 Da
Subunit: Component of the VCB (VHL-Elongin BC-CUL2) complex; this complex acts as a ubiquitin-ligase E3 and directsproteasome-dependent degradation of targeted proteins. Interacts with CUL2; this interaction is dependent on theintegrity of the trimeric VBC complex. Interacts (via the beta domain) with HIF1A (via the NTAD domain); thisinteraction mediates degradation of HIF1A in normoxia and, in hypoxia, prevents ubiqitination and degradation of HIF1Aby mediating hypoxia-induced translocation to the nucleus, a process which requires a hypoxia-dependent regulatorysignal. Interacts with ADRB2; the interaction, in normoxia, is dependent on hydroxylation of ADRB2 and the subsequentVCB-mediated ubiquitination and degradation of ADRB2. Under hypoxia, hydroxylation, interaction with VHL,ubiquitination and subsequent degradation of ADRB2 are dramatically decreased. Interacts with RNF139, USP33 and PHF17.Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Isoform 1 and isoform 3 interact with LIMD1(via LIM zinc-binding 2), AJUBA (via LIM domains) and WTIP (via LIM domains). Interacts with EPAS1
Subcellular location: Isoform 1: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=Found predominantly inthe cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane
Subcellular location: Isoform 3: Cytoplasm. Nucleus. Note=Equally distributed between the nucleus and the cytoplasm butnot membrane-associated
Developmental stage: At 4-10 weeks pc, strong expression in the developing central nervous system, kidneys, testis andlung. Differentially expressed within renal tubules
6/12 PDB 3D structures from  and Proteopedia  for VHL (see all 12):1LM8 (3D)
1LQB (3D)
1VCB (3D)
3ZRC (3D)
3ZRF (3D)
3ZTC (3D)
Secondary accessions: B2RE45 Q13599 Q6PDA9Alternative splicing, Alternative initiation: 3 isoforms: P40337-1 P40337-2 P40337-3 (Produced by alternative initiation at Met-54 of isoform 1)Explore the universe of human proteins at neXtProt for VHL: NX_P40337
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P40337
VHL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000542.1 NP_937799.1
ENSEMBL proteins: ENSP00000256474 ENSP00000344757 Reactome Protein details: P40337
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
VHL for ontologies About GeneDecksing
VHL Antibody Products:
Assay Products for VHL: |
Protein
Domains /
Families
for VHL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
VHL for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P40337ProtoNet protein and cluster: P40337 UniProtKB/Swiss-Prot: VHL_HUMAN, P40337Domain: The Elongin BC complex binding domain is also known as BC-box with the consensus [APST]-L-x(3)-C-x(3)-[AILV] |
Function
for VHL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337Function: Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindauubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruitshydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression throughinteraction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2 Genatlas biochemistry entry for VHL:Tumor suppressor protein,complexing with CUL2,elongin B,elongin C Rbx/ROC1 and an ubiquitin conjugating enzyme otherthan CDC34,either UBE2B,2D1,L6 or others to form an active E3 ubiquitin ligase complex named the VCB-CUL2complex,targetting and regulating the hypoxia inducible protein HIF in normoxic conditions,also involved in cell cycleregulation exit of cell cycle upon serum withdrawal and in extracellular matrix formation through interaction withfibronectin may be an inhibitor of the transcriptor elongation factor B (SIII) through competition to binding TCEB1and TCEBD
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHL (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): VHL (NM_000551) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VHL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VHL |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VHL |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
VHL for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for VHL:
Animal Models:
Mouse knock-outs for VHL: Vhltm1.1Lss Vhltm1.1Jae Vhltm1Wml Vhltm1Bjg
15/20 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Vhl) (see all 20):
VHL for phenotypes About GeneDecksing
|
Pathways & Interactions
for VHL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha | | | 2 | Antigen processing: Ubiquitination & Proteasome degradation | | | 3 | Immune System | | | 4 | Protein Stability | | | 5 | Neuroscience | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for VHL
3 
Cell Signaling Technology (CST) Pathways for VHL
3  BioSystems Pathways for VHL
5/11 
Reactome Pathways for VHL (see all 11)
3 
Kegg Pathways (Kegg details for VHL):
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337Pathway: Protein modification; protein ubiquitination
VHL for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VHL
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/350 Interacting proteins for VHL (P403371, 2, 3 ENSP000002564744) via UniProtKB, MINT, STRING, and/or I2D (see all 350)
About this table
Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table
VHL for ontologies About GeneDecksing
|
Drugs & Compounds
for VHL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
VHL for compounds About GeneDecksing
 Browse Tocris compounds for VHL
10/35 Novoseek chemical compound relationships for VHL gene (see all 35) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| vegf |
68.8 |
129 |
19755989 (7), 10475065 (5), 9271438 (5), 8625303 (4) (see all 54) |
| succinate |
58.1 |
8 |
18334619 (1), 15988378 (1), 20130071 (1), 18001193 (1) (see all 7) |
| ehen |
54.8 |
1 |
9290699 (1) |
| fumarate |
54.5 |
7 |
17255292 (2), 17699843 (1), 19285230 (1) |
| oxygen |
50.3 |
67 |
11336512 (3), 11175344 (2), 12507560 (2), 15181450 (2) (see all 46) |
| proline |
49 |
11 |
11504942 (2), 19584355 (1), 19470762 (1), 11823643 (1) (see all 10) |
| cobalt chloride |
38.7 |
1 |
18305400 (1) |
| sunitinib |
33.1 |
1 |
19402069 (1) |
| trichloroethylene |
28.3 |
10 |
15177666 (3), 19473641 (2), 10852497 (2), 10714214 (1) (see all 5) |
| deferoxamine |
28.1 |
2 |
15878351 (1) |
Search CenterWatch for drugs/clinical trials and news about VHL
|
Transcripts
for VHL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for VHL gene (2 alternative transcripts): NM_000551.3 NM_198156.2 Unigene Cluster for VHL: Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Hs.517792 [show with all ESTs]Unigene Representative Sequence: NM_0005513 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000256474(uc003bvc.3 uc003bvd.3) ENST00000345392 ENST00000477538
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHL (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): VHL (NM_000551) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VHL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VHL |
Additional cDNA sequence: AF088066.1 AK304002.1 AK309560.1 AK315799.1 BC027957.1 BC058831.1 L15409.1 13 DOTS entries: DT.101982322 DT.87016137 DT.120922749 DT.95353470 DT.120922689 DT.100749785 DT.452953 DT.87015079 DT.92046146 DT.97778760 DT.100707708 DT.120922748 DT.92439090 24/115 AceView cDNA sequences (see all 115): R26242 BQ893536 NM_198156 BC027957 NM_000551 BV189052 BP340519 BG914051 BE902579 BE786327 BI767841 BX956555 AI080062 BM564781 BG753018 BM975139 R79504 L15409 BG548629 BG288777 BQ082340 AI254340 BG422255 AA302681
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for VHL About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 |
|---|
|
| SP1: | | | | | | | - | | | | | | |
| SP2: | | | | | | | - | | - | | | | |
| SP3: | | | | | | | | | | | | |
ECgene alternative splicing isoforms for VHL
|
Expression
for VHL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| VHL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See VHL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for VHL
SOURCE GeneReport for Unigene cluster: Hs.517792
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337Tissue specificity: Expressed in the adult and fetal brain and kidney
SABiosciences Expression via Pathway-Focused PCR Arrays including VHL:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VHL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VHL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VHL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VHL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VHL |
Orthologs
for VHL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for VHL gene from 6/14 species (see all 14) About this table
ENSEMBL Gene Tree for VHL (if available)
TreeFam Gene Tree for VHL (if available) |
Paralogs
for VHL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for VHL gene
- VHLL2
1 SIMAP similar gene for VHL using alignment to 5 protein entries: VHL_HUMAN (see all proteins):VHLL
VHL for paralogs About GeneDecksing
|
Genomic Variants
for VHL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for VHL (10182692 - 10193904 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for VHL: --
Human Gene Mutation Database (HGMD): VHL
Locus Specific Mutation Databases (LSDB): VHL
| 5/19 SABiosciences Cancer Mutation PCR Assays for VHL (see all 19): |
| 4 SABiosciences Cancer Mutation PCR Arrays containing VHL: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VHL |
|
Disorders
/ Diseases
for VHL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
VHL for disorders About GeneDecksing
OMIM gene information: 608537
OMIM disorders: 193300 144700 171300 263400
UniProtKB/Swiss-Prot: VHL_HUMAN, P40337
Defects in VHL are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producingtumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting theincreased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent Defects in VHL are the cause of von Hippel-Lindau disease (VHLD) [MIM:193300]. VHLD is a dominantly inheritedfamilial cancer syndrome characterized by the development of retinal angiomatosis, cerebellar and spinalhemangioblastoma, renal cell carcinoma (RCC), phaeochromocytoma and pancreatic tumors. VHL type 1 is withoutpheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma,retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma,retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). VHL type 2C refers to patientswith isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. The estimated incidence is 3/100000births per year and penetrance is 97% by age 60 years Defects in VHL are the cause of familial erythrocytosis type 2 (ECYT2) [MIM:263400]; also called VHL-dependentpolycythemia or Chuvash type polycythemia. ECYT2 is an autosomal recessive disorder characterized by an increase inserum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serumlevels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis andcerebrovascular events Defects in VHL are a cause of renal cell carcinoma (RCC) [MIM:144700]. Renal cell carcinoma is a heterogeneousgroup of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It issubclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophoberenal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cellcarcinoma
20/122  diseases for VHL (see all 122): About MalaCardsvon hippel-lindau disease peutz-jeghers syndrome vhl-related pheochromocytoma hemangioblastoma, cerebellar, somatic
multiple endocrine neoplasia multiple endocrine neoplasia type 2a renal cell carcinoma central nervous system hemangioblastoma
endolymphatic sac tumor familial adenomatous polyposis hypoxia acute mountain sickness
renal cell carcinoma, somatic hemangioblastoma renal clear cell carcinoma non-small cell lung carcinoma
congenital diaphragmatic hernia collecting duct carcinoma nonpapillary renal cell carcinoma angiomatosis
3 diseases from the University of Copenhagen DISEASES database for VHL:Renal cell carcinoma Hemangioma Vascular cancer 10/82 Novoseek disease relationships for VHL gene (see all 82) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| renal clear cell carcinoma |
93.2 |
86 |
18660794 (5), 15062033 (3), 17255293 (3), 18464292 (2) (see all 52) |
| von hippel-lindau disease |
93 |
82 |
11309459 (3), 9156047 (2), 10567493 (2), 12584999 (2) (see all 61) |
| carcinoma renal cell |
89.9 |
239 |
11792959 (7), 19933033 (3), 10475065 (3), 15386385 (3) (see all 99) |
| hemangioblastoma |
88.1 |
45 |
9458097 (4), 9787178 (3), 9370235 (3), 16869749 (2) (see all 23) |
| renal cancer |
85.1 |
46 |
12169691 (2), 18389622 (2), 9820032 (1), 15180922 (1) (see all 33) |
| pheochromocytoma |
83.8 |
142 |
12673678 (7), 19215943 (5), 15883705 (4), 17102081 (4) (see all 67) |
| cancer syndromes hereditary |
83 |
13 |
11331612 (1), 10823831 (1), 12209156 (1), 16585181 (1) (see all 9) |
| paraganglioma |
79.8 |
27 |
16001332 (1), 16098460 (1), 15988378 (1), 19825962 (1) (see all 17) |
| erythrocytosis, familial |
74 |
1 |
19494350 (1) |
| tumors |
72.9 |
633 |
12359370 (5), 15771820 (5), 10852497 (5), 12937142 (4) (see all 99) |
GeneTests: VHL
Von Hippel-Lindau Syndrome
Genetic Association Database (GAD): VHL
Human Genome Epidemiology (HuGE) Navigator: VHL (50 documents)
Tumor Gene Database (TGDB): VHL
Export disorders for VHL gene to outside databases
|
Publications
for VHL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for VHL gene, integrated from 9 sources (see all 954):
(articles sorted by number of sources associating them with VHL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. (PubMed id 12844285)1, 2, 4, 9 Pastore Y.D.... Prchal J.T. (2003)
- Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2002)
- A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor. (PubMed id 9671762)1, 2, 3, 9 Schoenfeld A.... Burk R.D. (1998)
- Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. (PubMed id 8730290)1, 2, 9 Maher E.R.... Moore A.T. (1996)
- The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1. (PubMed id 12169691)1, 2, 9 Zhou M.I.... Cohen H.T. (2002)
- Hypertension, antihypertensives and mutations in the Von Hippel-Lindau gene in renal cell carcinoma: results from the Netherlands Cohort Study. (PubMed id 16208141)1, 4, 9 Schouten L.J....van den Brandt P.A. (2005)
- Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein. (PubMed id 11739384)1, 2, 9 Li Z.... Wu G. (2002)
- Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. (PubMed id 7660130)1, 2, 9 Kibel A.... Kaelin W.G. Jr. (1995)
- Oxygen-regulated beta(2)-adrenergic receptor hydroxyl ation by EGLN3 and ubiquitylation by pVHL. (PubMed id 19584355)1, 2, 9 Xie L....Stamler J.S. (2009)
- Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. (PubMed id 14726398)1, 4, 9 Gordeuk V.R....Polyakova L.A. (2004)
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External Searches for VHL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing VHL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing VHL gene
(According to HUGE)
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Specialized Databases showing VHL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for VHL | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for VHL | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VHL |
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| Patent Information for VHL gene:
Search GeneIP for patents involving VHL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for VHL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for VHL | | OriGene shRNA RFP for VHL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VHL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VHL | | | OriGene Protein Over-expression Lysate for VHL | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for VHL | | OriGene 3'-UTR Clone for VHL | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VHL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VHL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for VHL | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VHL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VHL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VHL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VHL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VHL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VHL |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VHL |
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