VDR (NM_000376) - vitamin D receptor
Vitamin D3 Receptor Isoform Vdra
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Protein
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PTM Interaction Network Visualisation
Protein summary
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].
- Strand
- -
- Chromosome
- 12
- Protein
- 427 residues
- All mutations
- 89
- PTM sites
- 11
- CDS
- 48,238,528 - 48,272,896
- Transcription
- 48,235,319 - 48,298,814
Usage summary
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Kinase, PTM site or protein
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