AlphaFold predicted structure
VDR · P11473
Mean pLDDT
83.6/ 100
Confident
427 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)8%
- Low(50–70)4%
- Very low(< 50)17%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
VDR
Chr 12q13.11vitamin D receptor
- Aliases:
- NR1I1, PPP1R163
- MANE:
- ENST00000549336.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalHypophosphataemia or rickets
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOsteogenesis imperfecta
Pigmentary skin disorders
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Disease associations (Open Targets)
Hypocalcemic vitamin D-resistant rickets
0.82psoriasis
0.63chronic kidney disease
0.62osteoporosis
0.61vitamin D deficiency
0.61secondary hyperparathyroidism
0.60psoriasis vulgaris
0.60Hypocalcemia
0.60hypoparathyroidism
0.58anemia (phenotype)
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Vitamin D3 receptor
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:10678179, PubMed:15728261, PubMed:16913708, PubMed:28698609, PubMed:37478846). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites (PubMed:12016314, PubMed:32354638)
Diseases associated with VDR
Curated MONDO disease pages that list VDR among their top associated genes.