VDR
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| vitamin D receptor | MIM:601769 | Ensembl:ENSG00000111424 | HGNC:HGNC:12679 | PA37301 | 12q13.11 |
GO terms in VDR
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000976 | transcription regulatory region sequence-specific DNA binding |
| MF | IBA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0001076 | transcription factor activity, RNA polymerase II transcription factor binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003707 | steroid hormone receptor activity |
| MF | IBA | GO:0004879 | nuclear receptor activity |
| MF | IBA | GO:0005499 | vitamin D binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008134 | transcription factor binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IBA | GO:0008434 | calcitriol receptor activity |
| MF | IDA | GO:0008434 | calcitriol receptor activity |
| MF | IMP | GO:0008434 | calcitriol receptor activity |
| MF | IBA | GO:0030374 | nuclear receptor transcription coactivator activity |
| MF | IDA | GO:0038186 | lithocholic acid receptor activity |
| MF | IDA | GO:0046965 | retinoid X receptor binding |
| MF | IPI | GO:0046965 | retinoid X receptor binding |
| MF | IBA | GO:0070644 | vitamin D response element binding |
| MF | IDA | GO:0070644 | vitamin D response element binding |
| MF | IBA | GO:0098531 | transcription factor activity, direct ligand regulated sequence-specific DNA binding |
| MF | IBA | GO:1902098 | calcitriol binding |
| MF | IDA | GO:1902098 | calcitriol binding |
| MF | IMP | GO:1902098 | calcitriol binding |
| MF | IDA | GO:1902121 | lithocholic acid binding |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0000902 | cell morphogenesis |
| BP | IEA | GO:0001501 | skeletal system development |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IEA | GO:0006816 | calcium ion transport |
| BP | IEA | GO:0006874 | cellular calcium ion homeostasis |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IBA | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0007595 | lactation |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IBA | GO:0009887 | animal organ morphogenesis |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0010839 | negative regulation of keratinocyte proliferation |
| BP | IDA | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IDA | GO:0038183 | bile acid signaling pathway |
| BP | TAS | GO:0042359 | vitamin D metabolic process |
| BP | IEA | GO:0043401 | steroid hormone mediated signaling pathway |
| BP | IMP | GO:0045618 | positive regulation of keratinocyte differentiation |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEP | GO:0046697 | decidualization |
| BP | IEA | GO:0050892 | intestinal absorption |
| BP | IEA | GO:0060058 | positive regulation of apoptotic process involved in mammary gland involution |
| BP | IBA | GO:0060429 | epithelium development |
| BP | ISS | GO:0060558 | regulation of calcidiol 1-monooxygenase activity |
| BP | IEA | GO:0060745 | mammary gland branching involved in pregnancy |
| BP | IDA | GO:0070561 | vitamin D receptor signaling pathway |
| BP | IMP | GO:0070561 | vitamin D receptor signaling pathway |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IBA | GO:0090575 | RNA polymerase II transcription factor complex |
| CC | IDA | GO:0090575 | RNA polymerase II transcription factor complex |
Gene expression in normal tissue: VDR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in VDR
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-196791 | Vitamin D (calciferol) metabolism |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-383280 | Nuclear Receptor transcription pathway |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4090294 | SUMOylation of intracellular receptors |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8957322 | Metabolism of steroids |
| pid | deltanp63pathway | Validated transcriptional targets of deltaNp63 isoforms |
| pid | p53downstreampathway | Direct p53 effectors |
| pid | retinoic_acid_pathway | Retinoic acid receptors-mediated signaling |
| pid | rxr_vdr_pathway | RXR and RAR heterodimerization with other nuclear receptor |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| pid | tap63pathway | Validated transcriptional targets of TAp63 isoforms |
| pharmgkb | PA2025 | Etoposide Pathway, Pharmacokinetics/Pharmacodynamics |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| kegg | hsa04961 | Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human) |
| kegg | hsa04978 | Mineral absorption - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| wikipathways | WP1531 | Vitamin D Metabolism |
| wikipathways | WP170 | Nuclear Receptors |
| wikipathways | WP2289 | Drug Induction of Bile Acid Pathway |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP299 | Nuclear Receptors in Lipid Metabolism and Toxicity |
| wikipathways | WP34 | Ovarian Infertility Genes |
| wikipathways | WP4141 | PI3K-AKT-mTOR - VitD3 Signalling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD341 | Triacsin c | 1 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD369 | TGX-115 | 3 |
| iGMDRD154 | NSC23766 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in VDR
CLASSFICATION
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