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FLASH GENE
Symbol VDR contributors: mct/npt/pgu - updated : 01-10-2017
HGNC name vitamin D (1,25- dihydroxyvitamin D3) receptor
HGNC id 12679
ASSOCIATED DISORDERS
corresponding disease(s) VDRA , VDDR2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in colorectal cancer with poor differentiation
constitutional     --low  
in lungs of patients with chronic obstructive pulmonary disease (COPD)
constitutional   deletion    
leads to premature emphysema/COPD by increased matrix metalloproteinases and lymphoid aggregates formation
Susceptibility
  • to osteoporosis
  • to higher adult height
  • to lower circulating vitamin D and lower height in adolescent girl
  • to idiopathic short stature
  • to obstructive sleep apnea syndrome (OSAS)
  • Variant & Polymorphism SNP , other
  • A>G at intron 8 associated with higher adult height
  • T>C at exon 9 associated with higher adult height
  • homozygous 1521C/1012G associated with lower circulating vitamin D and lower height in adolescent girl
  • SNP associated to idiopathic short stature
  • VDR mutations were found highly related with OSAS
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    therapy target for colorectal cancer
    immunologyautoimmune 
    VDR/MED1 interaction is of potential therapeutic interest
    ANIMAL & CELL MODELS
  • VDR null mice exhibit abnormal cutaneous barrier function with altered lipid composition
  • significant increase in infiltration of macrophages into the lung interstitium of VDR-/- mice, but not in WT