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VDR (NM_000376) - vitamin D receptor

Vitamin D3 Receptor Isoform Vdra

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of VDR protein. View all 3 isoforms
VDR: vitamin D3 receptor isoform VDRA
Description:

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
27.63% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 7421
UniProt
Ensembl