VDR (Vitamin D Receptor) Gene
Nuclear receptor mediating vitamin D signaling and calcium homeostasis
Gene Information Card
| Symbol | VDR |
|---|---|
| Full Name | Vitamin D Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 7421 ncbi.nlm.nih.gov/gene/7421 |
| Ensembl ID | ENSG00000111424 |
| UniProt ID | P11473 |
| OMIM ID | 601769 |
| HGNC ID | 12679 |
| Aliases | NR1I1, PPP1R163 |
Description
The VDR gene encodes the vitamin D receptor, a nuclear receptor that mediates the effects of 1,25-dihydroxyvitamin D3. Upon ligand binding, VDR heterodimerizes with the retinoid X receptor and regulates transcription of target genes involved in calcium and phosphate homeostasis, bone mineralization, immune modulation, and cell differentiation. Mutations in VDR cause hereditary vitamin D-resistant rickets (HVDRR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary vitamin D-resistant rickets (HVDRR) | Loss-of-function mutations in VDR impair vitamin D signaling, leading to hypocalcemia, hypophosphatemia, and severe rickets despite normal vitamin D levels. | OMIM #277440; ClinVar |
| Osteoporosis | Polymorphisms in VDR (e.g., FokI, BsmI) are associated with altered bone mineral density and fracture risk. | NCBI Gene; multiple GWAS studies |
| Psoriasis | VDR agonists (calcipotriol) are used topically; VDR expression is altered in psoriatic skin. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 10.8 | Medium |
| Bone | 6.2 | Low |
| Skin | 4.1 | Low |
| Liver | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in recombinant systems |
| Caco-2 | 8.7 | Intestinal epithelial model |
| MG-63 | 5.4 | Osteosarcoma cell line |
| HaCaT | 3.8 | Keratinocyte model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152G>A (p.Arg51Gln) | Missense | <0.01% | Loss of DNA-binding; causes HVDRR |
| c.191G>A (p.Arg64Gln) | Missense | <0.01% | Impaired heterodimerization; HVDRR |
| c.1024C>T (p.Arg342*) | Nonsense | <0.01% | Truncated protein; HVDRR |
| rs2228570 (FokI) | SNP | ~40% | Alters start codon; associated with osteoporosis |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in the DNA-binding or ligand-binding domains abolish transcriptional activity, leading to HVDRR.
Gain of Function (GOF)
Not well documented; some polymorphisms may increase receptor activity but clinical significance is unclear.
Dominant Negative (DN)
Rare; certain missense mutants can interfere with wild-type VDR function in vitro.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vitamin D receptor pathway (Reactome: R-HSA-196791)
• Vitamin D metabolism and signaling (KEGG: hsa04975)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
The vitamin D receptor (VDR) is a 427-amino-acid nuclear receptor with an N-terminal DNA-binding domain containing two zinc fingers, a hinge region, and a C-terminal ligand-binding domain. It binds 1,25-dihydroxyvitamin D3 with high affinity, heterodimerizes with RXR, and activates transcription of genes such as CYP24A1, TRPV6, and SPP1. VDR is expressed in kidney, intestine, bone, and immune cells, and its dysfunction leads to rickets and is implicated in osteoporosis, cancer, and autoimmune diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VDR Knockout HEK293 Cell Line | EDJ-KQ2441 | Human | 7421 | Details Get a Quote |
| VDR Knockout HeLa Cell Line | EDJ-KQ18130 | Human | 7421 | Details Get a Quote |
| VDR Knockout HCT 116 Cell Line | EDJ-KQ22953 | Human | 7421 | Details Get a Quote |
| VDR Knockout A-549 Cell Line | EDJ-KQ21635 | Human | 7421 | Details Get a Quote |
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