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Vdr Gene Detail
Summary
  • Symbol
    Vdr
  • Name
    vitamin D receptor
  • Synonyms
    Nr1i1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103076
    NCBI Gene: 22337
  • Gene Overview
    MyGene.info: VDR
Location & Maps
more
  • Sequence Map
    Chr15:97854425-97910630 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      56206 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 53.85 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    VDR, vitamin D (1,25- dihydroxyvitamin D3) receptor
  • Vertebrate Orthologs
    11
  • Human Ortholog
    VDR, vitamin D (1,25- dihydroxyvitamin D3) receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NR1I1, PPP1R163
  • Links
    NCBI Gene ID: 7421
    neXtProt AC: NX_P11473

  • Chr Location
    12q13.11; chr12:47841537-47905031 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Vdr mouse models; 2 with human VDR associations

Human Disease Mouse Models
       Osteoporosis   OMIM: 166710 View 1 model
Vitamin D-Dependent Rickets, Type 2A; VDDR2A   OMIM: 277440 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    148 phenotypes from 10 alleles in 16 genetic backgrounds
    36 phenotypes from multigenic genotypes
    3 images
    200 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
    16
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    12
  • Transgenic
    1
  • Genomic Mutations
    3 involving Vdr
  • Incidental Mutations
Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026431 VEGA Gene Model | MGI Sequence Detail 56206 C57BL/6J ±  kb
transcript OTTMUST00000065367 VEGA | MGI Sequence Detail 4370 Not Applicable  
polypeptide OTTMUSP00000032572 VEGA | MGI Sequence Detail 422 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    796 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000017283 vitamin D3 receptor
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR000324 Vitamin D receptor
    IPR013088 Zinc finger, NHR/GATA-type
    IPR001628 Zinc finger, nuclear hormone receptor-type
Molecular
Reagents
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  • All nucleic 20
    Genomic 2
    cDNA 11
    Primer pair 6
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-23940
References
more
  • Summaries
    All 263
    Developmental Gene Expression 23
    Diseases 6
    Gene Ontology 12
    Phenotypes 200
  • Earliest
    J:23756 Huang YC, et al., Effect of hormones and development on the expression of the rat 1,25-dihydroxyvitamin D3 receptor gene. Comparison with calbindin gene expression. J Biol Chem. 1989 Oct 15;264(29):17454-61
  • Latest
    J:233883 Wilson RL, et al., Vitamin D Receptor Gene Ablation in the Conceptus Has Limited Effects on Placental Morphology, Function and Pregnancy Outcome. PLoS One. 2015;10(6):e0131287

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
09/27/2016
MGI 6.05
The Jackson Laboratory