| Gene ID | 7421 |
| Symbol | VDR |
| Synonymous | NR1I1|PPP1R163 |
| Full name | vitamin D (1,25- dihydroxyvitamin D3) receptor |
| Gene description | 1,25-dihydroxyvitamin D3 receptor|nuclear receptor subfamily 1 group I member 1|protein phosphatase 1, regulatory subunit 163|vitamin D nuclear receptor variant 1|vitamin D3 receptor |
| Cytoband | 12q13.11 |
| Gene type | protein-coding |
| Synonymous | MIM:601769; HGNC:HGNC:12679; Ensembl:ENSG00000111424; HPRD:03463; Vega:OTTHUMG00000169890 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Vitamin D metabolism and pathway;PANTHER;P04396 |
Pathway | RXR and RAR heterodimerization with other nuclear receptor;PID Curated;200112 |
Pathway | Direct p53 effectors;PID Curated;200101 |
Pathway | Regulation of nuclear SMAD2/3 signaling;PID Curated;200002 |
Pathway | Retinoic acid receptors-mediated signaling;PID Curated;200142 |
Pathway | Gene Expression;Reactome;REACT:71 |
Disease | pulmonary tuberculosis;GAD |
Disease | combined bone mass;GAD |
Disease | autoimmune hepatitis;GAD |
Disease | HEMATOLOGICAL;GAD |
Disease | Chronic Periodontitis;GAD |
Disease | kidney stone disease;GAD |
Disease | birth height growth to adolescence and adult stature;GAD |
Disease | bone density;GAD |
Disease | Osteoporosis;GAD |
Disease | Difference in height;GAD |
Disease | Crohn's disease;GAD |
Disease | serum total and ionized calcium concentration;GAD |
Disease | hepatitis B;GAD |
Disease | obesity;GAD |
Disease | early osteoarthritis;GAD |
Disease | diabetes, type 2;GAD |
Disease | AGING;GAD |
Disease | Vitamin D deficiency rickets;GAD |
Disease | leisure physical activity;GAD |
Disease | chronic renal failure.;GAD |
Disease | prostatic hyperplasia;GAD |
Disease | Osteoporosis, Postmenopausal;GAD |
Disease | BsmI vitamin D receptor gene polymorphism;GAD |
Disease | osteonecrosis;GAD |
Disease | renal cell carcinoma;GAD |
Disease | breast cancer risk;GAD |
Disease | bone metastases;GAD |
Disease | calcific aortic valve stenosis;GAD |
Disease | IMMUNE;GAD |
Disease | Addison's disease;GAD |
Disease | osteoarthritis;GAD |
Disease | psoriasis;GAD |
Disease | prostate cancer;GAD |
Disease | PHARMACOGENOMIC;GAD |
Disease | METABOLIC;GAD |
Disease | periodontitis;GAD |
Disease | sex-dependent growth;GAD |
Disease | INFECTION;GAD |
Disease | Rickets, vitamin D-resistant, type IIA;OMIM |
Disease | Nephrolithiasis;GAD |
Disease | colorectal cancer;GAD |
Disease | Bone Mineral Density;GAD |
Disease | tuberculosis;GAD |
Disease | radiographic osteoarthritis at the knee;GAD |
Disease | benign prostatic hyperplasia and benign prostatic enlargement;GAD |
Disease | diabetes, type 1;GAD |
Disease | lead toxicity;GAD |
Disease | primary biliary cirrhosis;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | malignant melanoma;GAD |
Disease | arthritis, juvenile;GAD |
Disease | calcium oxalate stone disease;GAD |
Disease | CANCER;GAD |
Disease | melanoma;GAD |
Disease | NORMALVARIATION;GAD |
Disease | dengue hemorrhagic fever;GAD |
Disease | pregnancy loss, recurrent;GAD |
Disease | fat-free mass and sarcopenia;GAD |
Disease | hyperthyroidism;GAD |
Disease | Osteoporosis, involutional;OMIM |
Disease | REPRODUCTION;GAD |
Disease | lumbar disc disease;GAD |
Disease | periodontitis, early-onset;GAD |
Disease | bone mass;GAD |
Disease | leprosy type;GAD |
Disease | multiple sclerosis;GAD |
Disease | urolithiasis;GAD |
Disease | calcium;GAD |
Disease | breast cancer;GAD |
Disease | juvenile idiopathic arthritis;GAD |
Disease | betaCL osteocalcin;GAD |
Disease | metastatic breast cancer;GAD |
Disease | end stage renal disease;GAD |
Disease | Calcium Nephrolithiasis;GAD |
Disease | rickets;GAD |
Disease | breast cancer development;GAD |
Disease | RENAL;GAD |
Disease | Progression to AIDS;GAD |
Disease | Lupus;GAD |
Disease | Grave`s disease;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >7421 : length: 5060 CTGCTTGTCAAAAGGCGGCAGCGGAGCCGTGTGCGCCGGGAGCGCGGAACAGCTTGTCCACCCGCCGGCCGGACCAGGTGCGAACCCGGGAGCAGCGGGAAAGGGGGTCTCAGGATAGGG ACTCGGGGTCGGGGCGTCTGGGATACCGGGGCCTGAGCGCCCGGCTGCGAGCATTAGAGTCTAAGTCTCAGCGGTAAACTTGGCTACTGAGGTCCGGGCTGTCGTGCCATGAGGCTGGGA CACTAAGGGGCACTGAGGTTTGAGAAAGCTGAAGTTCGTGCCAGGCTGGCGAGGGGAGCAGCGACATCCTCGGCGCTTAGGAGAAATGCTCCGCTAACACAGTGCTTAGCACTTGGGCAA CAAGAAGTATTTGTTTCCTTCTTCTGTCGGGGCGCCTTGGCATGGAGTGGAGGAATAAGAAAAGGAGCGATTGGCTGTCGATGGTGCTCAGAACTGCTGGAGTGGAGGAAGCCTTTGGGT CTGAAGTGTCTGTGAGACCTCACAGAAGAGCACCCCTGGGCTCCACTTACCTGCCCCCTGCTCCTTCAGGGATGGAGGCAATGGCGGCCAGCACTTCCCTGCCTGACCCTGGAGACTTTG ACCGGAACGTGCCCCGGATCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGCTATGACCTGTGAAGGCTGCAAAGGCTTCTTCAGGCGAAGCATGAAGCGGAAGGCAC TATTCACCTGCCCCTTCAACGGGGACTGCCGCATCACCAAGGACAACCGACGCCACTGCCAGGCCTGCCGGCTCAAACGCTGTGTGGACATCGGCATGATGAAGGAGTTCATTCTGACAG ATGAGGAAGTGCAGAGGAAGCGGGAGATGATCCTGAAGCGGAAGGAGGAGGAGGCCTTGAAGGACAGTCTGCGGCCCAAGCTGTCTGAGGAGCAGCAGCGCATCATTGCCATACTGCTGG ACGCCCACCATAAGACCTACGACCCCACCTACTCCGACTTCTGCCAGTTCCGGCCTCCAGTTCGTGTGAATGATGGTGGAGGGAGCCATCCTTCCAGGCCCAACTCCAGACACACTCCCA GCTTCTCTGGGGACTCCTCCTCCTCCTGCTCAGATCACTGTATCACCTCTTCAGACATGATGGACTCGTCCAGCTTCTCCAATCTGGATCTGAGTGAAGAAGATTCAGATGACCCTTCTG TGACCCTAGAGCTGTCCCAGCTCTCCATGCTGCCCCACCTGGCTGACCTGGTCAGTTACAGCATCCAAAAGGTCATTGGCTTTGCTAAGATGATACCAGGATTCAGAGACCTCACCTCTG AGGACCAGATCGTACTGCTGAAGTCAAGTGCCATTGAGGTCATCATGTTGCGCTCCAATGAGTCCTTCACCATGGACGACATGTCCTGGACCTGTGGCAACCAAGACTACAAGTACCGCG TCAGTGACGTGACCAAAGCCGGACACAGCCTGGAGCTGATTGAGCCCCTCATCAAGTTCCAGGTGGGACTGAAGAAGCTGAACTTGCATGAGGAGGAGCATGTCCTGCTCATGGCCATCT GCATCGTCTCCCCAGATCGTCCTGGGGTGCAGGACGCCGCGCTGATTGAGGCCATCCAGGACCGCCTGTCCAACACACTGCAGACGTACATCCGCTGCCGCCACCCGCCCCCGGGCAGCC ACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTACCGCTGCCTCTCCTTCCAGCCTGAGTGCAGCATGAAGCTAACGCCCC TTGTGCTCGAAGTGTTTGGCAATGAGATCTCCTGACTAGGACAGCCTGTGGCGGTGCCTGGGTGGGGCTGCTCCTCCAGGGCCACGTGCCAGGCCCGGGGCTGGCGGCTACTCAGCAGCC CTCCTCACCCCGTCTGGGGTTCAGCCCCTCCTCTGCCACCTCCCCTATCCACCCAGCCCATTCTCTCTCCTGTCCAACCTAACCCCTTTCCTGCGGGCTTTTCCCCGGTCCCTTGAGACC TCAGCCATGAGGAGTTGCTGTTTGTTTGACAAAGAAACCCAAGTGGGGGCAGAGGGCAGAGGCTGGAGGCAGGGCCTTGCCCAGAGATGCCTCCACCGCTGCCTAAGTGGCTGCTGACTG ATGTTGAGGGAACAGACAGGAGAAATGCATCCATTCCTCAGGGACAGAGACACCTGCACCTCCCCCCACTGCAGGCCCCGCTTGTCCAGCGCCTAGTGGGGTCTCCCTCTCCTGCCTACT CACGATAAATAATCGGCCCACAGCTCCCACCCCACCCCCTTCAGTGCCCACCAACATCCCATTGCCCTGGTTATATTCTCACGGGCAGTAGCTGTGGTGAGGTGGGTTTTCTTCCCATCA CTGGAGCACCAGGCACGAACCCACCTGCTGAGAGACCCAAGGAGGAAAAACAGACAAAAACAGCCTCACAGAAGAATATGACAGCTGTCCCTGTCACCAAGCTCACAGTTCCTCGCCCTG GGTCTAAGGGGTTGGTTGAGGTGGAAGCCCTCCTTCCACGGATCCATGTAGCAGGACTGAATTGTCCCCAGTTTGCAGAAAAGCACCTGCCGACCTCGTCCTCCCCCTGCCAGTGCCTTA CCTCCTGCCCAGGAGAGCCAGCCCTCCCTGTCCTCCTCGGATCACCGAGAGTAGCCGAGAGCCTGCTCCCCCACCCCCTCCCCAGGGGAGAGGGTCTGGAGAAGCAGTGAGCCGCATCTT CTCCATCTGGCAGGGTGGGATGGAGGAGAAGAATTTTCAGACCCCAGCGGCTGAGTCATGATCTCCCTGCCGCCTCAATGTGGTTGCAAGGCCGCTGTTCACCCACAGGGCTAAGAGCTA GCGCTGCCGCACCCCAGAGTGTGGGAAGGGAGAGCGGGGCAGTCTCGGGTGGCTAGTCAGAGAGAGTGTTTGGGGGTTCCGTGATGTAGGGTAAGGTGCCTTCTTATTCTCACTCCACCA CCCAAAAGTCAAAAGGTGCCTGTGAGGCAGGGGCGGAGTGATACAACTTCAAGTGCATGCTCTCTGCAGCCAGCCCAGCCCAGCTGGTGGGAAGCGTCTGTCCGTTTACTCCAAGGTGGG GTCTTTGTGAGAGTGAGCTGTAGGTGTGCGGGACCGGTACAGAAAGGCGTTCTTCGAGGTGGATCACAGAGGCTTCTTCAGATCAGTGCTTGAGTTTGGGGAATGCGGCCGCATTCCCTG AGTCACCAGGAATGTTAAAGTCAGTGGGAACGTGACTGCCCCAACTCCTGGAAGCTGTGTCCTTGCACCTGCATCCGTAGTTCCCTGAAAACCCAGAGAGGAATCAGACTTCACACTGCA AGAGCCTTGGTGTCCACCTGGCCCCATGTCTCTCAGAATTCTTCAGGTGGAAAAACATCTGAAAGCCACGTTCCTTACTGCAGAATAGCATATATATCGCTTAATCTTAAATTTATTAGA TATGAGTTGTTTTCAGACTCAGACTCCATTTGTATTATAGTCTAATATACAGGGTAGCAGGTACCACTGATTTGGAGATATTTATGGGGGGAGAACTTACATTGTGAAACTTCTGTACAT TAATTATTATTGCTGTTGTTATTTTACAAGGGTCTAGGGAGAGACCCTTGTTTGATTTTAGCTGCAGAACGTATTGGTCCAGCTTGCTCTTCAGTGGGAGAAAACACTTGTAAGTTGCTA AACGAGTCAATCCCCTCATTCAGGAAAACTGACAGAGGAGGGCGTGACTCACCCAAGCATATATAACTAGCTAGAAGTGGGCCAGGACAGGCCCGGCGCGGTGGCTCACGCCTGTAATCC CAGCAGTTTGGGAGGTCGAGGTAGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAACCTGACCAACATGGAGAAACCCTGTCTCTATTAAAAATACAAAAAAAAAAAAAAAAAAAATAG CCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCGTTACTCTCCAACCTGGAC AACAAGAGCGAAACTCCGTCTTAGAAGTGGACCAGGACAGGACCAGATTTTGGAGTCATGGTCCGGTGTCCTTTTCACTACACCATGTTTGAGCTCAGACCCCCACTCTCATTCCCCAGG TGGCTGACCCAGTCCCTGGGGGAAGCCCTGGATTTCAGAAAGAGCAAGTCTGGATCTGGGACCCTTTCCTTCCTTCCCTGGCTTGTAACTCCACCAACCCATCAGAAGGAGAAGGAAGGA GACTCACCTCTGCCTCAATGTGAATCAGACCCTACCCCACCACGATGTGGCCCTGGCCTGCTGGGCTCTCCACCTCAGCCTTGGATAATGCTGTTGCCTCATCTATAACATGCATTTGTC TTTGTAATGTCACCACCTTCCCAGCTCTCCCTCTGGCCCTGCCTTCTTCGGGGAACTCCTGGAAATATCAGTTACTCAGCCCTGGGCCCCACCACCTAGGCCACTCCTCCAAAGGAAGTC TAGGAGCTGGGAGGAAAAGAAAAGAGGGGAAAATGAGTTTTTATGGGGCTGAACGGGGAGAAAAGGTCATCATCGATTCTACTTTAGAATGAGAGTGTGAAATAGACATTTGTAAATGTA AAACTTTTAAGGTATATCATTATAACTGAAGGAGAAGGTGCCCCAAAATGCAAGATTTTCCACAAGATTCCCAGAGACAGGAAAATCCTCTGGCTGGCTAACTGGAAGCATGTAGGAGAA TCCAAGCGAGGTCAACAGAGAAGGCAGGAATGTGTGGCAGATTTAGTGAAAGCTAGAGATATGGCAGCGAAAGGATGTAAACAGTGCCTGCTGAATGATTTCCAAAGAGAAAAAAAGTTT GCCAGAAGTTTGTCAAGTCAACCAATGTAGAAAGCTTTGCTTATGGTAATAAAAATGGCTCATACTTATATAGCACTTACTTTGTTGCAAGTACTGCTGTAAATAAATGCTTTATGCAAA CCAAAAAAAAAAAAAAAAAA |
Protein Sequence | >7421 : length: 477 MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGMEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITK DNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHC ITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELI EPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS |