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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for VDR (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7421
Official gene symbolVDR
Full namevitamin D (1,25- dihydroxyvitamin D3) receptor
Aliases,NR1I1,
Gene summaryThis 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 the same protein. [provided by RefSeq]
LocationChromosome: 12   Locus: 12q13.11
Gene position48298814 - 48235320  Map Viewer
Gene orientationminus
Gene size63495 bp
Gene sequence
OMIM ID601769