von Hippel-Lindau tumor suppressor (VHL)
Name: VHL
Description: von Hippel-Lindau tumor suppressor
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 3
GeneticSource: genomic
MapLocation: 3p26-p25
OtherAliases: HRCA1, RCA1, VHL1
OtherDesignations: elongin binding protein
NomenclatureSymbol: VHL
NomenclatureName: von Hippel-Lindau tumor suppressor
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 91632
Summary: Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant 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, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression 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]
ChrSort: 03
ChrStart: 10183318
UniProtein db: VHL UniProt protein knowledge database
Ensembl db: VHL Ensembl genome database
Real-time quantitative PCR and RT-PCR primer sets for VHL
PATTYN, F., SPELEMAN, F., DE PAEPE A. & VANDESOMPELE, J. (2003). RTPrimerDB: the Real-Time PCR primer and probe database. Nucleic Acids Research, 31(1): 122-123.
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: CGCCGCATCCACAGCTA
Reverse primer: GGCTTCAGACCGTGCTATCG
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: CAATGTTGACGGACAGCCTATTT
Reverse primer: GTCTATCCTGTACTTACCACAACAACCT
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: GACCTGGAGCGGCTGACA
Reverse primer: TACCATCAAAAGCTGAGATGAAACA
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL Gene Expression Quantification/Detection SYBR Green I PCR
Forward primer: CTGCCCGTATGGCTCAACTT
Reverse primer: GTGTGTCCCTGCATCTCTGAAG
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: TCCCAGGTCATCTTCTGCAAT
Reverse primer: GCTCGCCGTCGAAGTTGA
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: GGTCACCTTTGGCTCTTCAGA
Reverse primer: TGAGAGATGGCACAAATAATTCAGT
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: AGAGCGATGCCTCCAGGTT
Reverse primer: CTGACGATGTCCAGTCTCCTGTAAT
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: CATCGTCAGGTCGCTCTACGA
Reverse primer: GTCAGCCGCTCCAGGTCTT
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: GGACATCGTCAGGTCGCTCTA
Reverse primer: CTTCAATCTCCCATCCGTTGA
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: GCCTCGGCCTCCCAAA
Reverse primer: ATCGGGACAAGCAAAGGTTGT
Probe:
Amplicon:
Annealing temperature: 60
Application: VHL DNA Copy Number Quantification/Detection SYBR Green I PCR
Forward primer: CCGGAGGGCGGAGAACT
Reverse primer: GTCTTCTTCAGGGCCGTACTCTT
Probe:
Amplicon:
Annealing temperature: 60
Thu, 21 Jan 2010 12:20:10 -0500
The VHL gene is a tumor suppressor gene, which means it prevents cells from growing and dividing too rapidly ... The VHL gene provides instructions for making a protein that ...
Complete information for VHL gene (protein-coding), von Hippel-Lindau tumor suppressor
The Von Hippel–Lindau tumor suppressor protein is encoded by the VHL gene and when inactivated is associated with Von Hippel–Lindau disease. ...
Human gene symbol report page for 'VHL - von Hippel-Lindau tumor suppressor'
Tracking Down the VHL Gene. ... Where informative markers are present on both sides of the gene, the accuracy of the test is above 99%. This is the case in only about 44% of the ...
72% of VHL mutations will be detected by sequencing and 28 ... The detection of a pathogenic mutation in one copy of the VHL gene is considered a positive test result. ...
The VHL gene is the archetype of a tumor suppressor gene; a gene whose normal function is to regulate cell growth. ... Both copies of the gene must be lost for cancer to develop. ...
Molecular genetic testing of VHL, the only gene known to be associated with VHL syndrome, detects mutations in nearly 100% of affected individuals. Management. ...
The gene for Von-Hippel Lindau disease (VHL) is found on chromosome 3, and is inherited ... If the gene is lost or mutated, then its inhibitory affect on cell ...
Links to other gene databases. VHL Mutations Database (Universal ... VHL is a dominantly inherited syndrome associated with germline mutations of the VHL tumour suppressor gene ...
The VHL gene is a tumor suppressor gene, which means it keeps cells from growing ... Mutations in this gene prevent production of the VHL protein or lead to the ...
Exclusion of APC and VHL gene deletions by array based comparative hybridization in two patients with microscopically visible chromosomal aberrations. ...
Therefore, mutations in the VHL gene are closely associated with kidney cancer. ... A VHL patient has a 50-50 chance of passing a mutated form of the VHL gene to ...
Of the two proteins encoded by the VHL gene, the larger one contains 213 amino acids ... Mutation analysis of the VHL gene was performed as previously ...