VDR
LOCUS ID7421
GENE_SYMBOLVDR
GENE NAMEvitamin D (1,25- dihydroxyvitamin D3) receptor
SYNONYMNSNR1I1, PPP1R163
CHROMOSOME12
HOMOLOGENE ID37297
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Comparison of DN group and healthy subjects identified statistically significant difference for the FokI polymorphism in VDR gene (P<10-4) and also for the BstBI polymorphism in PTH gene (P=0,023).22777106
Cardiovascular1. An association between the vitamin D receptor (VDR) GAT haplotype and coronary artery disease (CAD) in type-2 diabetes has recently been described26724524
Retinopathy1. VDR rs2228570 might be good candidate biomarker of DR in Han Chinese T2DM patients.25899017
Tuberculosis1. Results showed that DM2 group has lower VDR and AMPs expression levels. When Monocytes Derived Macrophages (MDM) from DM2 patients with low VDR expression were supplemented with vitamin D, MDMs eliminate efficiently M. tuberculosis. This preliminary study suggests the use of vitamin D as prophylaxis for tuberculosis in high DM2 endemic countries25016144