VDR

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]

Description

Vitamin D receptor

Tissue specificity

Tissue enriched (parathyroid gland)

Subcell location

Nucleoplasm, Intermediate filaments, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Nuclear receptors
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors
Transporters

Chromosome

12 (47841537 - 47943048)

Ensembl ID

ENSG00000111424  (ver. 103.38)

Orthologs

Mouse Vdr: ENSMUSG00000022479

UniProt

P11473

neXtProt

NX_P11473

Human splice variants
Mouse splice variants

Protein structure