PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.
PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.
| Position ? | Drug ? | Relevance ? |
Strength of Evidence ? |
||
|---|---|---|---|---|---|
Download a summary of all Clinical Annotations available.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs11568820 | VDR:Cdx2, g.10445851C>T, g.1270G>A |
C > T
|
Not Available | |||
| rs1540339 | c.277+1504G>A, g.10400632C>T, g.46489G>A |
C > T
|
Not Available | |||
| rs1544410 | VDR: BsmI, VDR:BsmI, c.1024+283G>A, g.10383141C>T, g.63980G>A |
C > T
|
Not Available | |||
| rs2228570 | VDR:FokI, c.2T>A, c.2T>C, c.2T>G, g.10416201A>C, g.10416201A>G, g.10416201A>T, g.30920T>A, g.30920T>C, g.30920T>G, p.Met1Arg, p.Met1Lys, p.Met1Thr |
A > T
A > C
A > G
|
Missense |
Met1Thr
Met1Lys
Met1Arg
|
||
| rs2239179 | VDR:rs2239179, c.277+1064A>G, g.10401072T>C, g.46049A>G |
T > C
|
Not Available | |||
| rs2239185 | c.756-3968C>T, g.10387865G>A, g.59256C>T |
G > A
|
Not Available | |||
| rs3782905 | c.146+6584C>G, g.10409473G>C, g.37648C>G |
G > C
|
Not Available | |||
| rs4516035 | g.10443132T>C, g.3989A>G |
T > C
|
Not Available | |||
| rs731236 | NM_000376.2:c.1056T>C, VDR: TaqI, VDR:Taq1 T>t, c.1056T>A, c.1056T>C, c.1056T>G, g.10382063A>C, g.10382063A>G, g.10382063A>T, g.65058T>A, g.65058T>C, g.65058T>G, p.Ile352Met |
A > G
|
Not Available |
Ile352Ile
|
||
| rs7975232 | VDR:ApaI, c.1025-49G>T, g.10382143C>A, g.64978G>T |
C > A
|
Not Available |
Overview
| Alternate Names: | 1,25-dihydroxyvitamin D3 receptor; nuclear receptor subfamily 1 group I member 1; vitamin D (1,25-dihydroxyvitamin D3) receptor; vitamin D receptor; vitamin D3 receptor |
|---|---|
| Alternate Symbols: | NR1I1 |
| PharmGKB Accession Id: | PA37301 |
Details
| Cytogenetic Location: | chr12 : q13.11 - q13.11 |
|---|---|
| GP mRNA Boundary†: | chr12 : 48235320 - 48298814 |
| GP Gene Boundary†: | chr12 : 48232320 - 48308814 |
| Strand: | minus |
| Product Name: | No data available |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Etoposide Pathway
Etoposide cellular disposition and effects.
External Pathways
Links to non-PharmGKB pathways.
- control of gene expression by vitamin d receptor - (BioCarta via Pathway Interaction Database)
- Regulation of nuclear SMAD2/3 signaling - (Pathway Interaction Database NCI-Nature Curated)
- Retinoic acid receptors-mediated signaling - (Pathway Interaction Database NCI-Nature Curated)
- RXR and RAR heterodimerization with other nuclear receptor - (Pathway Interaction Database NCI-Nature Curated)
Curated Information ?
| Evidence | Drug |
|---|---|
| 1,25-dihydroxyvitamin d3 | |
| alendronate | |
| calcitriol | |
| calcium | |
| clodronate | |
| conjugated estrogens | |
| etidronic acid | |
| medroxyprogesterone | |
| raloxifene | |
| zoledronate |
| Evidence | Drug Class |
|---|---|
| Bisphosphonates | |
| Calcium | |
| selective beta-2-adrenoreceptor agonists | |
| vitamin d and analogues |
Publications related to VDR: 29
Datasets
- Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia
- Pharmacokinetics of etoposide, catechol metabolite
- Identification of Genetic Variants Associated with Expression Differences between Populations
- Pharmacogenetics of Minimal Residual Disease Response in Children with B-Precursor Acute Lymphoblastic Leukemia (ALL): A Report from the Children's Oncology Group
LinkOuts
- UniProtKB:
- VDR_HUMAN (P11473)
- Ensembl:
- ENSG00000111424
- GenAtlas:
- VDR
- GeneCard:
- GC12M048247 (7421)
- MutDB:
- VDR
- ALFRED:
- LO010717Q