Gene table of VDR : vitamin D (1,25- dihydroxyvitamin D3) receptor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with VDR	OMIM link	Number of associated genes	genes
166710	OSTEOPOROSIS	OMIM	link to OMIM	7	WNT1, CALCR, PDLIM4, COL1A1, COL1A2, VDR, LRP5
277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	VDR

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Annotation of the gene VDR

Associated genes in ENSEMBL

ENSG00000111424

Associated proteins - SwissProt Accession ID

P11473

Associated PDB IDs

Cytogenetic Band

12q13.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Mineral absorption	hsa04978	7.09
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12
Tuberculosis	hsa05152	5.17

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Nuclear Receptor transcription pathway	R-HSA-383280	7.31
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72

Associated GO terms for Molecular function

GO term	GO ID	GO IC
D3 vitamins binding	GO:1902271	9.05
nucleic acid binding	GO:0003676	1.44
molecular transducer activity	GO:0060089	2.32
transcription factor activity, direct ligand regulated sequence-specific DNA binding	GO:0098531	5.87
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
signaling receptor activity	GO:0038023	2.49
vitamin D response element binding	GO:0070644	8.64
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	GO:0004879	5.87
sequence-specific DNA binding	GO:0043565	2.79
transition metal ion binding	GO:0046914	2.48
lithocholic acid receptor activity	GO:0038186	9.74
bile acid receptor activity	GO:0038181	8.64
ion binding	GO:0043167	1.36
receptor activity	GO:0004872	2.32
metal ion binding	GO:0046872	1.41
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
transcription factor binding	GO:0008134	3.46
nuclear hormone receptor binding	GO:0035257	4.7
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
retinoid X receptor binding	GO:0046965	6.79
vitamin D binding	GO:0005499	7.95
steroid binding	GO:0005496	5.24
hormone receptor binding	GO:0051427	4.57
calcitriol binding	GO:1902098	9.74
transcription regulatory region DNA binding	GO:0044212	3.03
calcitriol receptor activity	GO:0008434	9.74
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
vitamin binding	GO:0019842	5.34
steroid hormone receptor activity	GO:0003707	5.66
organic acid binding	GO:0043177	6.6
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
retinoic acid receptor binding	GO:0042974	5.83
receptor binding	GO:0005102	2.43
lithocholic acid binding	GO:1902121	9.74
zinc ion binding	GO:0008270	2.66