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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:113624021-113631633 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 52.81 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    108 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103223
protein coding gene Chr6:113623959-113631633 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031133
protein coding gene Chr6:116161583-116170918 (+)
A/J MGP_AJ_G0031102
protein coding gene Chr6:111702658-111710345 (+)
AKR/J MGP_AKRJ_G0031033
protein coding gene Chr6:114703933-114711610 (+)
BALB/cJ MGP_BALBcJ_G0031113
protein coding gene Chr6:111648000-111655603 (+)
C3H/HeJ MGP_C3HHeJ_G0030595
protein coding gene Chr6:69588701-69596372 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031572
protein coding gene Chr6:119154871-119162545 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028736
protein coding gene Chr6:108727351-108736470 (+)
CAST/EiJ MGP_CASTEiJ_G0030220
protein coding gene Chr6:115157778-115165802 (+)
CBA/J MGP_CBAJ_G0030799
protein coding gene Chr6:123864970-123872642 (+)
DBA/2J MGP_DBA2J_G0030952
protein coding gene Chr6:110784601-110792266 (+)
FVB/NJ MGP_FVBNJ_G0030906
protein coding gene Chr6:109786298-109795318 (+)
LP/J MGP_LPJ_G0031032
protein coding gene Chr6:116188348-116195921 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030940
protein coding gene Chr6:128118327-128125997 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031599
protein coding gene Chr6:114719834-114727498 (+)
PWK/PhJ MGP_PWKPhJ_G0029936
protein coding gene Chr6:109738553-109746225 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029764
protein coding gene Chr6:113526527-113535283 (+)
WSB/EiJ MGP_WSBEiJ_G0030304
protein coding gene Chr6:115094843-115102513 (+)



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
    UniProt: P40337

  • Chr Location
    3p25.3; chr3:10141635-10153670 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 16 models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    12 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
    157 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22346 NCBI Gene Model | MGI Sequence Detail 7613 C57BL/6J ±  kb
    transcript NM_009507 RefSeq | MGI Sequence Detail 2758 C57BL/6  
    polypeptide P40338 UniProt | EBI | MGI Sequence Detail 181 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000017294 von Hippel-Lindau disease tumor suppressor
    • PDB
    • InterPro Domains
      IPR036208 VHL superfamily
      IPR024048 von Hippel-Lindau disease tumour suppressor, alpha domain
      IPR037139 von Hippel-Lindau disease tumour suppressor, alpha domain superfamily
      IPR022772 von Hippel-Lindau disease tumour suppressor, beta/alpha domain
      IPR024053 von Hippel-Lindau disease tumour suppressor, beta domain
      IPR037140 von Hippel-Lindau disease tumour suppressor, beta domain superfamily
      IPR002714 von Hippel-Lindau tumour suppressor protein
    Molecular
    Reagents
    less
    • All nucleic 25
      Genomic 6
      cDNA 17
      Primer pair 1
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-24093
    References
    more
    • Summaries
      All 211
      Developmental Gene Expression 11
      Diseases 12
      Gene Ontology 15
      Phenotypes 157
    • 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:263758 Kuwahara Y, et al., High Frequency of Ovarian Cyst Development in Vhl(2B/+);Snf5(+/-) Mice. Am J Pathol. 2018 Jul;188(7):1510-1516

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory