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    VDR

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    For Research Use Only. Not For Clinical Use.


    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.
    Protein class

    Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Transcription factors, Transporters

    Predicted location

    Intracellular

    Single cell type specificity

    Cell type enhanced (Distal enterocytes, Proximal enterocytes, Undifferentiated cells)

    Immune cell specificity

    Group enriched (non-classical monocyte, neutrophil, intermediate monocyte, myeloid DC, classical monocyte, eosinophil)

    Cell line specificity

    Cell line enhanced (HBEC3-KT, HDLM-2, U-937)

    Interaction

    Homodimer in the absence of bound vitamin D3 (PubMed:11980721). Heterodimer with RXRA after vitamin D3 binding (PubMed:15225774, PubMed:11980721, PubMed:10678179). Interacts with MED1, NCOA1, NCOA2, NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes (PubMed:10866662, PubMed:15728261, PubMed:28698609, PubMed:9267036). Interacts with the corepressor NCOR1 (PubMed:28698609). Interacts with SNW1 (PubMed:9632709). Interacts with IRX4, the interaction does not affect its transactivation activity (PubMed:22323358). Interacts with CRY1 (By similarity). Interacts with CRY2 in a ligand-dependent manner (By similarity).

    Molecular function

    DNA-binding, Receptor

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