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Vhl Gene Detail
Summary
  • Symbol
    Vhl
  • Name
    von Hippel-Lindau tumor suppressor
  • Synonyms
    pVHL, Vhlh
  • Feature Type
    protein coding gene
  • IDs
    MGI:103223
    NCBI Gene: 22346
Location & Maps
more
  • Sequence Map
    Chr6:113623959-113631633 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7675 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 52.81 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    VHL, von Hippel-Lindau tumor suppressor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    VHL, von Hippel-Lindau tumor suppressor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HRCA1, pVHL, RCA1, VHL1
  • Links
    NCBI Gene ID: 7428
    neXtProt AC: NX_P40337

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

Human Diseases
more
  • Diseases
    3 with Vhl mouse models; 4 with human VHL associations

Human Disease Mouse Models
       Erythrocytosis, Familial, 2; ECYT2   OMIM: 263400 View 1 model
Von Hippel-Lindau Syndrome; VHL   OMIM: 193300 View 16 models
       Sudden Infant Death Syndrome   OMIM: 272120 View 1 model
       Pheochromocytoma   OMIM: 171300
Renal Cell Carcinoma, Nonpapillary; RCC   OMIM: 144700
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    132 phenotypes from 9 alleles in 24 genetic backgrounds
    36 phenotypes from multigenic genotypes
    4 images
    127 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    10
  • Genomic Mutations
    1 involving Vhl
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    109 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000017294 von Hippel-Lindau disease tumor suppressor
  • PDB
  • InterPro Domains
    IPR024048 von Hippel-Lindau disease tumour suppressor, alpha domain
    IPR022772 von Hippel-Lindau disease tumour suppressor, beta/alpha domain
    IPR024053 von Hippel-Lindau disease tumour suppressor, beta domain
    IPR002714 Von Hippel-Lindau tumour suppressor protein
Molecular
Reagents
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  • All nucleic 24
    Genomic 6
    cDNA 16
    Primer pair 1
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-24093
References
more
  • Summaries
    All 168
    Developmental Gene Expression 10
    Diseases 13
    Gene Ontology 13
    Phenotypes 127
  • 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:234716 Segura I, et al., The Oxygen Sensor PHD2 Controls Dendritic Spines and Synapses via Modification of Filamin A. Cell Rep. 2016 Mar 22;14(11):2653-67

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory