Details for: VDR

Gene ID: 7421

Symbol: VDR

Ensembl ID: ENSG00000111424

Description: vitamin D receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 52.2678
    Cell Significance Index: -8.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.1317
    Cell Significance Index: -8.1500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 20.1596
    Cell Significance Index: -8.1900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 12.4884
    Cell Significance Index: -8.3800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.5939
    Cell Significance Index: -8.1300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.3970
    Cell Significance Index: -9.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.2231
    Cell Significance Index: 86.3700
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 3.0800
    Cell Significance Index: 3.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.0252
    Cell Significance Index: 209.2100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.8299
    Cell Significance Index: 81.5400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 2.1650
    Cell Significance Index: 21.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 2.1540
    Cell Significance Index: 32.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.1083
    Cell Significance Index: 95.5600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.0755
    Cell Significance Index: -8.1900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.0241
    Cell Significance Index: -4.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5673
    Cell Significance Index: 254.9100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4268
    Cell Significance Index: 155.1900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.1109
    Cell Significance Index: 27.7700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0994
    Cell Significance Index: 15.0000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.9967
    Cell Significance Index: 20.6800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9910
    Cell Significance Index: 21.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.9490
    Cell Significance Index: 20.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8405
    Cell Significance Index: 23.4900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8252
    Cell Significance Index: 58.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7427
    Cell Significance Index: 38.5800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.7154
    Cell Significance Index: 10.7200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6916
    Cell Significance Index: 305.8000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6589
    Cell Significance Index: 594.9200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5019
    Cell Significance Index: 95.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4328
    Cell Significance Index: 20.3400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.3859
    Cell Significance Index: 0.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3581
    Cell Significance Index: 41.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3074
    Cell Significance Index: 10.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2732
    Cell Significance Index: 8.7500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.2441
    Cell Significance Index: 27.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2425
    Cell Significance Index: 6.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2217
    Cell Significance Index: 39.9700
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.2027
    Cell Significance Index: 1.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1808
    Cell Significance Index: 22.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1769
    Cell Significance Index: 22.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1712
    Cell Significance Index: 16.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1679
    Cell Significance Index: 33.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1624
    Cell Significance Index: 20.9800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1088
    Cell Significance Index: 2.0100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1053
    Cell Significance Index: 0.9700
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0890
    Cell Significance Index: 0.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0820
    Cell Significance Index: 44.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0573
    Cell Significance Index: 4.2700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0439
    Cell Significance Index: 0.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0265
    Cell Significance Index: 4.5300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0054
    Cell Significance Index: 0.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0051
    Cell Significance Index: 3.8900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0034
    Cell Significance Index: 0.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0012
    Cell Significance Index: 0.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0010
    Cell Significance Index: 0.2100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0009
    Cell Significance Index: 0.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0014
    Cell Significance Index: -1.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0015
    Cell Significance Index: -2.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0019
    Cell Significance Index: -1.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0024
    Cell Significance Index: -4.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0040
    Cell Significance Index: -6.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0049
    Cell Significance Index: -0.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0050
    Cell Significance Index: -2.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0055
    Cell Significance Index: -7.4400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0069
    Cell Significance Index: -0.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.2700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0105
    Cell Significance Index: -1.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0110
    Cell Significance Index: -3.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0123
    Cell Significance Index: -2.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0173
    Cell Significance Index: -7.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0179
    Cell Significance Index: -5.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0343
    Cell Significance Index: -4.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0374
    Cell Significance Index: -4.2900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0406
    Cell Significance Index: -0.3100
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: -0.0407
    Cell Significance Index: -0.3500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0429
    Cell Significance Index: -1.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0583
    Cell Significance Index: -8.0000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0594
    Cell Significance Index: -0.8500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0732
    Cell Significance Index: -4.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0735
    Cell Significance Index: -5.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0758
    Cell Significance Index: -7.9000
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.0919
    Cell Significance Index: -0.5700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0980
    Cell Significance Index: -7.5200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0994
    Cell Significance Index: -5.0200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1045
    Cell Significance Index: -6.7400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1172
    Cell Significance Index: -7.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1196
    Cell Significance Index: -2.0500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1211
    Cell Significance Index: -4.4500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1263
    Cell Significance Index: -1.0300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1323
    Cell Significance Index: -8.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1373
    Cell Significance Index: -8.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1496
    Cell Significance Index: -7.8000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1552
    Cell Significance Index: -8.7100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1566
    Cell Significance Index: -4.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1599
    Cell Significance Index: -3.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1635
    Cell Significance Index: -7.2300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.1657
    Cell Significance Index: -1.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1665
    Cell Significance Index: -8.7400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1671
    Cell Significance Index: -7.2700
  • Cell Name: precursor cell (CL0011115)
    Fold Change: -0.1681
    Cell Significance Index: -1.2800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure:** VDR is a member of the nuclear receptor superfamily, consisting of four cysteine-rich domains (A, B, C, and D) that facilitate ligand binding and DNA recognition. 2. **Ligand Binding:** VDR is activated by the hydroxylated metabolites of vitamin D, including 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) and 24,25-dihydroxyvitamin D3 (24,25(OH)2D3). 3. **DNA Binding:** VDR binds to specific DNA sequences, known as vitamin D response elements (VDREs), which are located in the promoter regions of target genes. 4. **Transcriptional Regulation:** VDR modulates the expression of target genes by recruiting coactivators and corepressors, which influence chromatin structure and transcriptional activity. **Pathways and Functions:** 1. **Calcium Homeostasis:** VDR regulates the expression of genes involved in calcium homeostasis, including calcium-sensing receptors, parathyroid hormone receptors, and calbindin. 2. **Immune Function:** VDR modulates the expression of genes involved in immune responses, including cytokines, chemokines, and antimicrobial peptides. 3. **Cell Differentiation:** VDR regulates the expression of genes involved in cell differentiation, including those involved in bone formation, adipogenesis, and keratinocyte differentiation. 4. **Apoptosis:** VDR modulates the expression of genes involved in apoptosis, including those involved in the regulation of pro-apoptotic and anti-apoptotic proteins. **Clinical Significance:** Dysregulation of VDR has been implicated in various diseases, including: 1. **Autoimmune Disorders:** VDR has been implicated in the pathogenesis of autoimmune disorders, such as multiple sclerosis, rheumatoid arthritis, and lupus. 2. **Cancer:** VDR has been shown to have both tumor-suppressive and tumor-promoting effects, depending on the context. 3. **Osteoporosis:** VDR has been implicated in the regulation of bone mineral density and osteoblast function, making it a potential target for the treatment of osteoporosis. 4. **Infectious Diseases:** VDR has been shown to have antimicrobial effects, making it a potential target for the treatment of infectious diseases. In conclusion, the Vitamin D Receptor is a critical regulator of gene expression and immune function, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the mechanisms by which VDR regulates gene expression and to explore its potential as a therapeutic target.

Genular Protein ID: 1673468528

Symbol: VDR_HUMAN

Name: Vitamin D3 receptor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2835767

Title: Cloning and expression of full-length cDNA encoding human vitamin D receptor.

PubMed ID: 2835767

DOI: 10.1073/pnas.85.10.3294

PubMed ID: 1324736

Title: A single receptor identical with that from intestine/T47D cells mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells.

PubMed ID: 1324736

DOI: 10.1016/0167-4781(92)90063-6

PubMed ID: 9212063

Title: Structural organization of the human vitamin D receptor chromosomal gene and its promoter.

PubMed ID: 9212063

DOI: 10.1210/mend.11.8.9951

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1850412

Title: Vitamin D receptor expression in human lymphocytes. Signal requirements and characterization by western blots and DNA sequencing.

PubMed ID: 1850412

DOI: 10.1016/s0021-9258(20)89488-5

PubMed ID: 16252240

Title: Promoter and 3'-untranslated-region haplotypes in the vitamin D receptor gene predispose to osteoporotic fracture: the Rotterdam study.

PubMed ID: 16252240

DOI: 10.1086/497438

PubMed ID: 9267036

Title: Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300.

PubMed ID: 9267036

DOI: 10.1016/s0092-8674(00)80516-4

PubMed ID: 9632709

Title: Isolation and characterization of a novel coactivator protein, NCoA-62, involved in vitamin D-mediated transcription.

PubMed ID: 9632709

DOI: 10.1074/jbc.273.26.16434

PubMed ID: 10866662

Title: A new family of nuclear receptor coregulators that integrates nuclear receptor signaling through CBP.

PubMed ID: 10866662

DOI: 10.1128/mcb.20.14.5048-5063.2000

PubMed ID: 12145331

Title: Retinoid X receptor dominates the nuclear import and export of the unliganded vitamin D receptor.

PubMed ID: 12145331

DOI: 10.1210/me.2001-0345

PubMed ID: 12016314

Title: Vitamin D receptor as an intestinal bile acid sensor.

PubMed ID: 12016314

DOI: 10.1126/science.1070477

PubMed ID: 16252006

Title: Ligand-induced transrepression by VDR through association of WSTF with acetylated histones.

PubMed ID: 16252006

DOI: 10.1038/sj.emboj.7600853

PubMed ID: 25452584

Title: Retraction: 'Ligand-induced transrepression by VDR through association of WSTF with acetylated histones'.

PubMed ID: 25452584

DOI: 10.15252/embj.201470110

PubMed ID: 16207705

Title: Importin 4 is responsible for ligand-independent nuclear translocation of vitamin D receptor.

PubMed ID: 16207705

DOI: 10.1074/jbc.m509347200

PubMed ID: 22323358

Title: IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility.

PubMed ID: 22323358

DOI: 10.1093/hmg/dds025

PubMed ID: 30468856

Title: Nuclear hormone receptors: Ancient 9aaTAD and evolutionally gained NCoA activation pathways.

PubMed ID: 30468856

DOI: 10.1016/j.jsbmb.2018.11.008

PubMed ID: 32354638

Title: Lithocholic acid increases intestinal phosphate and calcium absorption in a vitamin D receptor dependent but transcellular pathway independent manner.

PubMed ID: 32354638

DOI: 10.1016/j.kint.2020.01.032

PubMed ID: 37478846

Title: UBR5 forms ligand-dependent complexes on chromatin to regulate nuclear hormone receptor stability.

PubMed ID: 37478846

DOI: 10.1016/j.molcel.2023.06.028

PubMed ID: 10678179

Title: The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand.

PubMed ID: 10678179

DOI: 10.1016/s1097-2765(00)80413-x

PubMed ID: 11344298

Title: Crystal structures of the vitamin D receptor complexed to superagonist 20-epi ligands.

PubMed ID: 11344298

DOI: 10.1073/pnas.091018698

PubMed ID: 11980721

Title: Structural basis of VDR-DNA interactions on direct repeat response elements.

PubMed ID: 11980721

DOI: 10.1093/emboj/21.9.2242

PubMed ID: 15055995

Title: Crystal structures of the vitamin D nuclear receptor liganded with the vitamin D side chain analogues calcipotriol and seocalcitol, receptor agonists of clinical importance. Insights into a structural basis for the switching of calcipotriol to a receptor antagonist by further side chain modification.

PubMed ID: 15055995

DOI: 10.1021/jm0310582

PubMed ID: 15225774

Title: Structural analysis of RXR-VDR interactions on DR3 DNA.

PubMed ID: 15225774

DOI: 10.1016/j.jsbmb.2004.03.084

PubMed ID: 15728261

Title: Superagonistic action of 14-epi-analogs of 1,25-dihydroxyvitamin D explained by vitamin D receptor-coactivator interaction.

PubMed ID: 15728261

DOI: 10.1124/mol.104.008730

PubMed ID: 16913708

Title: Probing a water channel near the A-ring of receptor-bound 1 alpha,25-dihydroxyvitamin D3 with selected 2 alpha-substituted analogues.

PubMed ID: 16913708

DOI: 10.1021/jm0604070

PubMed ID: 2849209

Title: Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

PubMed ID: 2849209

DOI: 10.1126/science.2849209

PubMed ID: 8381803

Title: A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

PubMed ID: 8381803

DOI: 10.1210/jcem.76.2.8381803

PubMed ID: 1652893

Title: A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

PubMed ID: 1652893

PubMed ID: 2177843

Title: A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3.

PubMed ID: 2177843

DOI: 10.1210/mend-4-4-623

PubMed ID: 8106618

Title: Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

PubMed ID: 8106618

DOI: 10.1210/jcem.78.2.8106618

PubMed ID: 8392085

Title: Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.

PubMed ID: 8392085

DOI: 10.1172/jci116539

PubMed ID: 7828346

Title: Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.

PubMed ID: 7828346

DOI: 10.1111/j.1365-2265.1994.tb01822.x

PubMed ID: 8675579

Title: A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

PubMed ID: 8675579

DOI: 10.1210/jcem.81.7.8675579

PubMed ID: 8961271

Title: Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D(3): point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.

PubMed ID: 8961271

DOI: 10.1210/mend.10.12.8961271

PubMed ID: 9005998

Title: Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

PubMed ID: 9005998

DOI: 10.1172/jci119158

PubMed ID: 15032981

Title: Vitamin D receptor gene variants of BsmI, ApaI, TaqI, and FokI polymorphisms in spinal tuberculosis.

PubMed ID: 15032981

DOI: 10.1111/j..2004.00183.x

PubMed ID: 17970811

Title: A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

PubMed ID: 17970811

DOI: 10.1111/j.1365-2133.2007.08232.x

PubMed ID: 28698609

Title: Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.

PubMed ID: 28698609

DOI: 10.1038/s41598-017-05081-x

Sequence Information:

  • Length: 427
  • Mass: 48289
  • Checksum: F95F300D042C4CB7
  • Sequence:
  • MEAMAASTSL PDPGDFDRNV PRICGVCGDR ATGFHFNAMT CEGCKGFFRR SMKRKALFTC 
    PFNGDCRITK DNRRHCQACR LKRCVDIGMM KEFILTDEEV QRKREMILKR KEEEALKDSL 
    RPKLSEEQQR IIAILLDAHH KTYDPTYSDF CQFRPPVRVN DGGGSHPSRP NSRHTPSFSG 
    DSSSSCSDHC ITSSDMMDSS SFSNLDLSEE DSDDPSVTLE LSQLSMLPHL ADLVSYSIQK 
    VIGFAKMIPG FRDLTSEDQI VLLKSSAIEV IMLRSNESFT MDDMSWTCGN QDYKYRVSDV 
    TKAGHSLELI EPLIKFQVGL KKLNLHEEEH VLLMAICIVS PDRPGVQDAA LIEAIQDRLS 
    NTLQTYIRCR HPPPGSHLLY AKMIQKLADL RSLNEEHSKQ YRCLSFQPEC SMKLTPLVLE 
    VFGNEIS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.