VDR (vitamin D receptor)

2007-02-01  

Identity

HGNC
LOCATION
12q13.11
LOCUSID
ALIAS
NR1I1,PPP1R163
FUSION GENES

Other Information

Locus ID:

NCBI: 7421
MIM: 601769
HGNC: 12679
Ensembl: ENSG00000111424

Variants:

dbSNP: 7421
ClinVar: 7421
TCGA: ENSG00000111424
COSMIC: VDR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111424ENST00000229022P11473
ENSG00000111424ENST00000395324P11473
ENSG00000111424ENST00000395324F1D8P8
ENSG00000111424ENST00000546653F8VRJ4
ENSG00000111424ENST00000547065F8VXQ9
ENSG00000111424ENST00000548664F8VPF8
ENSG00000111424ENST00000549336P11473
ENSG00000111424ENST00000549336F1D8P8
ENSG00000111424ENST00000550314F8VVY8
ENSG00000111424ENST00000550325P11473

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10239clodronateChemicalClinicalAnnotationassociatedPD10692979, 12162507, 12608943, 15739035, 18443790, 19020788
PA134687887selective beta-2-adrenoreceptor agonistsChemicalClinicalAnnotationassociatedPD15282200
PA164712563BisphosphonatesChemicalClinicalAnnotationassociatedPD10692979, 12162507, 12608943, 15739035, 18443790, 19020788
PA164712582calciumChemicalClinicalAnnotation, VipGeneassociatedPD15739035, 15861036, 17274004, 21418277, 9933478, 10692979, 10707958, 12162507, 12608943, 15739035, 15861036, 18443790, 19020788
PA164749390peginterferon alfa-2aChemicalClinicalAnnotationassociatedPD25713999
PA164754789conjugated estrogensChemicalClinicalAnnotationassociatedPD9860300
PA164760843deferasiroxChemicalClinicalAnnotationassociatedPD30651574
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD
PA165948902boceprevirChemicalMultilinkAnnotationassociated25836019
PA166128365bone densityDiseaseVipGeneassociated15040830, 8970884, 10367030
PA166154500rs731236VariantVipGeneassociated15739035, 17274004, 21418277, 9933478, 10707958
PA166154516rs1544410VariantVipGeneassociated14685227, 16210379, 18470879, 20500803, 21651652, 9933478, 11450701
PA166154531rs2228570VariantVipGeneassociated15739035, 15861036, 15864137, 17763859, 19647104, 20500803, 20716226, 21651652, 15295697
PA166154592rs4516035VariantVipGeneassociated15864137, 15883634, 10320522
PA166154608rs7975232VariantVipGeneassociated
PA166154640rs11568820VariantVipGeneassociated15864137, 15883634, 18827005, 20727239, 10320522
PA166159389cryoglobulinemiaDiseaseVariantAnnotationassociatedPD27139837
PA443250Acquired Immunodeficiency SyndromeDiseaseVipGeneassociated15225772, 11679916
PA443450AsthmaDiseaseClinicalAnnotation, VipGeneassociatedPD15282200, 15282199, 15282200
PA443560Breast NeoplasmsDiseaseVipGeneassociated15328186, 16214913, 10680726
PA443888Diabetes Mellitus, Type 1DiseaseVipGeneassociated10868975, 10792336
PA444445Hepatitis CDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25713999, 27139837
PA445019Myocardial InfarctionDiseaseVipGeneassociated
PA445172Osteitis DeformansDiseaseClinicalAnnotationassociatedPD10692979, 12162507, 12608943, 15739035, 18443790, 19020788
PA445190OsteoporosisDiseaseClinicalAnnotation, VipGeneassociatedPD8782780, 10692979, 11204438, 12162507, 12608943, 15739035, 18443790, 19020788
PA445425Prostatic NeoplasmsDiseaseVipGeneassociated
PA445451PsoriasisDiseaseVipGeneassociated
PA445566RicketsDiseaseVipGeneassociated
PA445941TuberculosisDiseaseVipGeneassociated15141734, 15478069, 10696983
PA446108Colorectal NeoplasmsDiseaseClinicalAnnotationassociatedPK
PA446432beta-ThalassemiaDiseaseClinicalAnnotationassociatedPD30651574
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD
PA448082alendronateChemicalClinicalAnnotation, VipGeneassociatedPD14685227, 16210379, 18470879, 20500803, 21651652, 9933478, 10692979, 11450701, 12162507, 12608943, 15739035, 18443790, 19020788
PA448714calcipotriolChemicalVipGeneassociated15295697, 15739035, 15861036, 15864137, 17274004, 17763859, 19647104, 20500803, 20716226, 21418277, 21651652, 9933478, 10707958
PA448717calcitriolChemicalVipGeneassociated10707958, 11450701, 14685227, 15295697, 15739035, 15861036, 15864137, 15883634, 16210379, 17274004, 17763859, 18470879, 18827005, 19647104, 20500803, 20716226, 20727239, 21418277, 21651652, 333287, 9933478, 10320522
PA449247dexamethasoneChemicalVipGeneassociated15864137, 15883634, 18827005, 20727239, 10320522
PA449548etidronic acidChemicalClinicalAnnotationassociatedPD10692979, 12162507, 12608943, 15739035, 18443790, 19020788
PA450085irinotecanChemicalClinicalAnnotationassociatedPK
PA450344medroxyprogesteroneChemicalClinicalAnnotationassociatedPD9860300
PA450496midazolamChemicalClinicalAnnotationassociatedPK
PA451221raloxifeneChemicalClinicalAnnotationassociatedPD10692979, 12162507, 12608943, 15739035, 18443790, 19020788
PA451241ribavirinChemicalClinicalAnnotation, VariantAnnotationassociatedPD25713999, 27139837
PA451899vitamin d and analoguesChemicalVipGeneassociated15739035, 15861036, 15864137, 17763859, 19647104, 20500803, 20716226, 21651652, 15295697
PA451906warfarinChemicalClinicalAnnotationassociatedPD29298995
PA451999interferonsChemicalVariantAnnotationassociatedPD27139837

References

Pubmed IDYearTitleCitations
186949802008Vitamin D and human health: lessons from vitamin D receptor null mice.367
155896992005Distribution of the vitamin D receptor and 1 alpha-hydroxylase in human brain.299
207362302010A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.281
120163142002Vitamin D receptor as an intestinal bile acid sensor.243
179623552008Novel role of the vitamin D receptor in maintaining the integrity of the intestinal mucosal barrier.184
218727972011Vitamin D receptor (VDR)-mediated actions of 1α,25(OH)₂vitamin D₃: genomic and non-genomic mechanisms.135
199963412010Vitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene.133
169460072006Minireview: vitamin D receptor: new assignments for an already busy receptor.126
195038392009Convergence of IL-1beta and VDR activation pathways in human TLR2/1-induced antimicrobial responses.111
2174688220111,25-dihydroxyvitamin D(3) ameliorates Th17 autoimmunity via transcriptional modulation of interleukin-17A.111

Citation

Dessen P

VDR (vitamin D receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45741/vdr