Aliases for VDR Gene
External Ids for VDR Gene
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the 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. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]
GeneCards Summary for VDR Gene
VDR (Vitamin D (1,25- Dihydroxyvitamin D3) Receptor) is a Protein Coding gene. Diseases associated with VDR include vitamin d-dependent rickets type ii and rickets, vitamin d-resistant, type iia. Among its related pathways are Retinoic acid receptors-mediated signaling and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is NR1I2.
UniProtKB/Swiss-Prot for VDR Gene
Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis.
Vitamin D receptors (VDRs) are members of the NR1I family, which also includes pregnane X (PXR) and constitutive androstane (CAR) receptors, that form heterodimers with members of the retinoid X receptor family. VDR is expressed in the intestine, thyroid and kidney and has a vital role in calcium homeostasis. VDRs repress expression of 1alpha-hydroxylase (the proximal activator of 1,25(OH)2D3) and induce expression of the 1,25(OH)2D3 inactivating enzyme CYP24. Also, it has recently been identified as an additional bile acid receptor alongside FXR and may function to protect gut against the toxic and carcinogenic effects of these endobiotics. Inherited mutations in the VDR gene leads to rickets, which is characterized by muscle weakness, growth retardation, bone deformity and secondary hyperparathyroidism. The human gene encoding the vitamin D receptor has been localized to chromosome 12q12-q14.