VDR (vitamin D receptor)

2007-02-01  

Identity

HGNC
VDR
LOCATION
12q13.11
LOCUSID
7421
ALIAS
NR1I1,PPP1R163
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
365200942024Association of vitamin D receptor polymorphisms with cardiometabolic conditions in Pakistani population.0
374102652024Evolution of Vitamin D Status and Vitamin D Receptor Gene Expression Among Professional Handball Athletes During a Competitive Period. Relationship with Body Composition, Calcium, Magnesium and Phosphorous.0
374964292024Genetic association of vitamin D receptor gene with female infertility.0
375300482024Correlation of vitamin D receptor genotypes, specific IgE levels and other variables with asthma control in children.0
378243702024Frequency of Healthy Control Genotype of VDR Gene Polymorphisms in the Saudi Population of the Ha'il Region: A Comparative Study with Worldwide Population.1
381674742024Long pentraxin 3 and vitamin D receptor mRNA expression pattern of cumulus granulosa cells isolated from PCOS oocytes at different stages of nuclear maturation.0
382190642024Expression analysis of vitamin D receptor-associated long noncoding RNAs in patients with relapsing-remitting multiple sclerosis.0
382270182024Hypermethylation and down-regulation of vitamin D receptor (VDR) as contributing factors for polycystic ovary syndrome (PCOS): a case-control study from Kashmir, North India.1
382337972024The effect of BsmI (rs1544410) single nucleotide polymorphism of vitamin D receptor (VDR) on insulin resistance in healthy children and adolescents: a cross-sectional study.0
382583182024Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS.0
383069132024Association between vitamin D receptor gene variants and neonatal sepsis: A systematic review and meta-analysis.0
383233522024BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort.0
383399242024Relationship between vitamin D receptor genotypes (FOK1rs2228570) and IL18 gene expression in sample of multiple sclerosis Iraqi patients.0
383484982024Clinical and genetic determinants of vitamin D receptor expression in cutaneous melanoma patients.0
383974492024The Association of Vitamin D Receptor Gene Polymorphisms with Vitamin D, Total IgE, and Blood Eosinophils in Patients with Atopy.0

Citation

Dessen P

VDR (vitamin D receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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