VDR Chromosome 12
Vitamin D receptor
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What This Gene Does
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]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Nuclear receptor subfamily 1 group I"
Locus Type
gene with protein product
Location
12q13.11
Ensembl
ENSG00000111424
Associated Conditions (7)
Vitamin D-dependent rickets type II with alopecia
VDR-related disorder
Familial adenomatous polyposis 2
Inborn genetic diseases
Periodontitis
Hepatocellular carcinoma
Rickets
Key Variants
RS114678556
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, VDR-related disorder, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS11574107
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS11574115
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS11574116
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, VDR-related disorder, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS11574117
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS1164008328
Conflicting classifications of pathogenicity
Familial adenomatous polyposis 2, Vitamin D-dependent rickets type II with alopecia, Familial adenomatous polyposis 2
Health Risk
RS121909793
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS121909802
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS12721365
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS140864473
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS144756403
Conflicting classifications of pathogenicity
Vitamin D-dependent rickets type II with alopecia, Inborn genetic diseases, Vitamin D-dependent rickets type II with alopecia
Health Risk
RS145002466
Conflicting classifications of pathogenicity
VDR-related disorder, VDR-related disorder
Health Risk
Related Biomarkers (1)
Vitamin D (25-OH)
monitor
moderate
Related Supplements (1)
Vitamin D3 may support
moderate
VDR FokI — may need higher vitamin D intake
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1592107753 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS1945288336 | Health Risk | Pathogenic | — |
| RS201106427 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS2539963351 | Health Risk | Pathogenic | — |
| RS2539965571 | Health Risk | Pathogenic | — |
| RS2539969247 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS2539985015 | Health Risk | Pathogenic | — |
| RS2539996264 | Health Risk | Pathogenic | — |
| RS776088779 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS886037890 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS919014520 | Health Risk | Pathogenic | — |
| RS980041568 | Health Risk | Pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS121909791 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS121909796 | Health Risk | Pathogenic/Likely pathogenic | Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia, Rickets |