• Gene id: 7421

Gene Summary

• Gene Symbol: VDR   Gene   UCSC   Ensembl
• Aliases: NR1I1, PPP1R163
• Gene name: vitamin D receptor
• Alternate names: vitamin D3 receptor, 1,25-dihydroxyvitamin D3 receptor, nuclear receptor subfamily 1 group I member 1, protein phosphatase 1, regulatory subunit 163, vitamin D (1,25- dihydroxyvitamin D3) receptor, vitamin D nuclear receptor variant 1,
• Gene location: 12q13.11 (47905030: 47841536)     Exons: 12     NC_000012.12
• Gene summary(Entrez): This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequenc
• OMIM: 601769

Protein Summary

• Protein general information: P11473  
  • Name: Vitamin D3 receptor (VDR) (1,25 dihydroxyvitamin D3 receptor) (Nuclear receptor subfamily 1 group I member 1)
  • Length: 427  
  • Mass: 48,289
  • Tissue specificity: Expressed in the liver. Found in plasma, ascites, cerebrospinal fluid and urine. {ECO
• Sequence:

  MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRH
  CQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDF
  CQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLS
  MLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDV
  TKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPG
  SHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS

• Structural information:
  • Protein Domains: NR (127-423)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR000324  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1DB1 1IE8 1IE9 1KB2 1KB4 1KB6 1S0Z 1S19 1TXI 1YNW 2HAM 2HAR 2HAS 2HB7 2HB8 3A2I 3A2J 3A3Z 3A40 3A78 3AUQ 3AUR 3AX8 3AZ1 3AZ2 3AZ3 3B0T 3CS4 3CS6 3KPZ 3M7R 3OGT 3P8X 3TKC 3VHW 3W0A 3W0C 3W0Y 3WGP 3WWR 3X31 3X36 4G2I 4ITE 4ITF 5GT4
  • PDBsum: 1DB1 1IE8 1IE9 1KB2 1KB4 1KB6 1S0Z 1S19 1TXI 1YNW 2HAM 2HAR 2HAS 2HB7 2HB8 3A2I 3A2J 3A3Z 3A40 3A78 3AUQ 3AUR 3AX8 3AZ1 3AZ2 3AZ3 3B0T 3CS4 3CS6 3KPZ 3M7R 3OGT 3P8X 3TKC 3VHW 3W0A 3W0C 3W0Y 3WGP 3WWR 3X31 3X36 4G2I 4ITE 4ITF 5GT4
  • DIP: 32624
  • STRING: ENSP00000447173
• Other Databases: GeneCards:  VDR  Malacards:  VDR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000902	cell morphogenesis	IMP	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007595	lactation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IMP	biological process
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity	IDA	biological process
GO:0038183	bile acid signaling pathway	IDA	biological process
GO:0038186	lithocholic acid receptor activity	IDA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046697	decidualization	IEP	biological process
GO:0046965	retinoid X receptor binding	IPI	molecular function
GO:0050892	intestinal absorption	IEA	biological process
GO:0060058	positive regulation of apoptotic process involved in mammary gland involution	IEA	biological process
GO:0060558	regulation of calcidiol 1-monooxygenase activity	ISS	biological process
GO:0060745	mammary gland branching involved in pregnancy	IEA	biological process
GO:0070561	vitamin D receptor signaling pathway	IDA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902121	lithocholic acid binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0070644	vitamin D response element binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000902	cell morphogenesis	IMP	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008434	calcitriol receptor activity	IEA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IMP	biological process
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity	IDA	biological process
GO:0038183	bile acid signaling pathway	IDA	biological process
GO:0038186	lithocholic acid receptor activity	IDA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046697	decidualization	IEP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046965	retinoid X receptor binding	IPI	molecular function
GO:0050892	intestinal absorption	IEA	biological process
GO:0060058	positive regulation of apoptotic process involved in mammary gland involution	IEA	biological process
GO:0060558	regulation of calcidiol 1-monooxygenase activity	IEA	biological process
GO:0060558	regulation of calcidiol 1-monooxygenase activity	ISS	biological process
GO:0060745	mammary gland branching involved in pregnancy	IEA	biological process
GO:0070561	vitamin D receptor signaling pathway	IDA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902121	lithocholic acid binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0070644	vitamin D response element binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000902	cell morphogenesis	IMP	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0008434	calcitriol receptor activity	IDA	molecular function
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010839	negative regulation of keratinocyte proliferation	IMP	biological process
GO:0010980	positive regulation of vitamin D 24-hydroxylase activity	IDA	biological process
GO:0038183	bile acid signaling pathway	IDA	biological process
GO:0038186	lithocholic acid receptor activity	IDA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046697	decidualization	IEP	biological process
GO:0046965	retinoid X receptor binding	IPI	molecular function
GO:0060558	regulation of calcidiol 1-monooxygenase activity	ISS	biological process
GO:0070561	vitamin D receptor signaling pathway	IDA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IDA	cellular component
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902098	calcitriol binding	IDA	molecular function
GO:1902121	lithocholic acid binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0070644	vitamin D response element binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa05152	Tuberculosis

Diseases

Associated diseases	References
Brill-Symmers disease	GAD: 17653830
Cancer	GAD: 18285546
Cancer (Adenoma)	GAD: 18470879
Cancer (basal cell)	GAD: 19008093
Cancer (benign prostatic hyperplasia)	GAD: 11248649
Cancer (bladder)	GAD: 19692168
Cancer (breast)	GAD: 12150447
Cancer (colon)	GAD: 18628249
Cancer (colorectal)	GAD: 14652238
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 20453000
Cancer (head and neck)	GAD: 20819778
Cancer (Hepatocellular)	GAD: 20572305
Cancer (leukemia)	GAD: 12969965
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (melanoma)	GAD: 10690530
Cancer (ovarian)	GAD: 20473893
Cancer (Papilary)	GAD: 19499989
Cancer (prostate)	GAD: 10987658
Cancer (rectal)	GAD: 20432164
Cancer (Renal cell)	GAD: 12402975
Cancer (Squamous cell)	GAD: 18662591
Colon cancer	GAD: 11456232
Aortic valve stenosis	GAD: 11359741
Atherosclerosis	GAD: 12446192
Brain ischemia	GAD: 19028820
Hypertension	GAD: 11335187
Cardiovascular disease	GAD: 16207551
Gaucher disease	GAD: 20419464
Fabry disease	GAD: 18278558
Primary biliary cirrhosis	GAD: 11786968
Chronic pancreatitis	GAD: 14572874
Hyperthyroidism	GAD: 11028447
Hashimoto disease	GAD: 16721822
Hyperparathyroidism	GAD: 11522087
Graves disease	GAD: 11134121
Anemia	GAD: 18334245
Beta-thalassemia	GAD: 19337166
Addison's disease	GAD: 12444895
Alopecia areata	GAD: 17822494
Arthritis	GAD: 11981324
Asthma	GAD: 15663557
Autoimmune diseases	GAD: 19376604
Inflammatory bowel disease	GAD: 18752562
Ulcerative colitis	GAD: 19365702
Multiple sclerosis	GAD: 10967184
Rheumatoid arthritis	GAD: 11251690
Periodontitis	GAD: 18316854
Psoriasis	GAD: 12071154
Systemic lupus erythematosus (SLE)	GAD: 16507161
Celiac disease	GAD: 18389618
Chronic ulcerative colitis	GAD: 15684874
Crohn's disease	GAD: 10896912
Albuminuria	GAD: 20120526
Biliary cirrhosis	GAD: 12169981
Hypercalcemia	GAD: 11033842
Insulin resistance	GAD: 19501823
Obesity	GAD: 11454514
Metabolic syndrome	GAD: 18821289
Diabetes	GAD: 10792336
Scoliosis	GAD: 19094687
Bone diseases	GAD: 10813109
Bone diseases	GAD: 12566913
Osteoarthritis	GAD: 9259424
Osteoarthritis	GAD: 10743824
Osteoarthritis	GAD: 11824954
Osteonecrosis	GAD: 15459215
Osteoporosis	GAD: 15040830
Spinal diseases	GAD: 18469698
Degenerative arthropathy	GAD: 20237151
Rickets	GAD: 17349151
Osteomalacia	GAD: 14691685
Juvenile idiopathic arthritis	GAD: 12375338
Alzheimer's disease	GAD: 17592215
Amyotrophic lateral sclerosis (ALS)	GAD: 12896855
Parkinson disease	GAD: 15953876
Cirrhosis	GAD: 14642064
Cognitive function	GAD: 20006704
Kidney diseases	GAD: 11684548
Chronic renal failure	GAD: 9335382
Prostatic hyperplasia	GAD: 16461080
Recurrent pregnancy loss (RPL)	GAD: 11383910
Sex-dependent growth	GAD: 9284728
Orchiectomy	INFBASE: 20172873
Polycystic ovary syndrome (PCOS)	INFBASE: 21277927
Turners syndrome	INFBASE: 22117179
Hypogonadotropic hypogonadism	MIK: 16370560
Male factor infertility	MIK: 20172873
Sperm motility	MIK: 21427118
Spermatogenesis defects	MIK: 20172873
Endometriosis	INFBASE: 21779647
Endometriosis-associated infertility	INFBASE: 26398313
Chronic obstructive pulmonary disease (COPD)	GAD: 18258629
Keratosis	GAD: 18647306
Vitiligo	GAD: 21085187
Erythema	GAD: 19225544
Chronic periodontitis	GAD: 14572874
Alveolar Bone Loss	GAD: 19335080
Calcinosis	GAD: 20847308
Calcium metabolism disorders	GAD: 15141345
Calcium nephrolithiasis	GAD: 12814692
Calcium oxalate stone disease	GAD: 11167636
Spinal ossification	GAD: 12195069
Dwarfism	GAD: 21073120
Nephrolithiasis	GAD: 10436404
Urolithiasis	GAD: 11956476
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypogonadotrophic hypogonadism	MIK: 16370560
Male infertility	MIK: 20172873
Spermatogenesis defects	MIK: 20172873
Sperm motility defects	MIK: 21427118
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21427118	Sperm motility			300 men from the general population	Male infertility
20172873	Male infertility, Spermatogenesis			41 (Orchiectomy (testis n = 13; epididymis n = 7), prostatectomy (prostate n = 5 and SVs n = 3) and semen samples obtained after ejaculation (n = 13))	Male infertility	VDR CYP2R1 CYP27B1 and CYP24A1
16370560	Hypogonadotrophic hypogonadism	fokI start codon polymorphism		104 (65 untreated male patients with IHH, 39 healthy matched controls)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881