Version: 8.0.0Date: Tue Jan 28 2025
Gene
VDR
- Species
- Homo sapiens
- Symbol
- VDR
- Name
- vitamin D receptor
- Synonyms
- 1,25-dihydroxyvitamin D3 receptor
- NR1I1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including bile acid nuclear receptor activity; nuclear retinoid X receptor binding activity; and steroid binding activity. Contributes to DNA-binding transcription factor activity and vitamin D response element binding activity. Involved in several processes, including decidualization; nuclear receptor-mediated signaling pathway; and regulation of transcription by RNA polymerase II. Acts upstream of or within negative regulation of DNA-templated transcription. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex and receptor complex. Is active in chromatin and nucleus. Implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); liver disease (multiple); lung disease (multiple); and melanoma (multiple). Biomarker of several diseases, including autosomal recessive limb-girdle muscular dystrophy type 2B; carcinoma (multiple); cholangitis (multiple); gestational diabetes; and metabolic dysfunction-associated steatotic liver disease.
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24082
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:47841537...47943048 - (101.51 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.