Protein Name vitamin D receptor
Organism Homo sapiens
Gene ID 7421
Gene Symbol


UniProt P11473 (VDR_HUMAN), F1D8P8 (F1D8P8_HUMAN)
Relationships Total Number of functionally related compound(s) : 878
Total Number of Articles : 3430

vitamin D receptor

Gene Summary

This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]

  • vitamin D3 receptor
  • 1,25-dihydroxyvitamin D3 receptor
  • nuclear receptor subfamily 1 group I member 1
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