We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes Nuclear receptors Transcription factors Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q13.11
Chromosome location (bp)
47841537 - 47943048
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells 1,2,3,4,5. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR 6. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes 7. Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites 8,9....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000902[cell morphogenesis] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0010839[negative regulation of keratinocyte proliferation] GO:0010980[positive regulation of vitamin D 24-hydroxylase activity] GO:0030154[cell differentiation] GO:0030501[positive regulation of bone mineralization] GO:0030522[intracellular receptor signaling pathway] GO:0036094[small molecule binding] GO:0038183[bile acid signaling pathway] GO:0038186[lithocholic acid receptor activity] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043235[receptor complex] GO:0043565[sequence-specific DNA binding] GO:0045618[positive regulation of keratinocyte differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046697[decidualization] GO:0046872[metal ion binding] GO:0046965[nuclear retinoid X receptor binding] GO:0060558[regulation of calcidiol 1-monooxygenase activity] GO:0070561[vitamin D receptor signaling pathway] GO:0070564[positive regulation of vitamin D receptor signaling pathway] GO:0070644[vitamin D response element binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1902098[calcitriol binding] GO:1902121[lithocholic acid binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000902[cell morphogenesis] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0007595[lactation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009887[animal organ morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010839[negative regulation of keratinocyte proliferation] GO:0010980[positive regulation of vitamin D 24-hydroxylase activity] GO:0030154[cell differentiation] GO:0030501[positive regulation of bone mineralization] GO:0030522[intracellular receptor signaling pathway] GO:0036094[small molecule binding] GO:0038183[bile acid signaling pathway] GO:0038186[lithocholic acid receptor activity] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043235[receptor complex] GO:0043565[sequence-specific DNA binding] GO:0045618[positive regulation of keratinocyte differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046697[decidualization] GO:0046872[metal ion binding] GO:0046965[nuclear retinoid X receptor binding] GO:0050892[intestinal absorption] GO:0060057[apoptotic process involved in mammary gland involution] GO:0060058[positive regulation of apoptotic process involved in mammary gland involution] GO:0060558[regulation of calcidiol 1-monooxygenase activity] GO:0060745[mammary gland branching involved in pregnancy] GO:0070561[vitamin D receptor signaling pathway] GO:0070564[positive regulation of vitamin D receptor signaling pathway] GO:0070644[vitamin D response element binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1902098[calcitriol binding] GO:1902121[lithocholic acid binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000902[cell morphogenesis] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0010839[negative regulation of keratinocyte proliferation] GO:0010980[positive regulation of vitamin D 24-hydroxylase activity] GO:0030154[cell differentiation] GO:0030501[positive regulation of bone mineralization] GO:0036094[small molecule binding] GO:0038183[bile acid signaling pathway] GO:0038186[lithocholic acid receptor activity] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043235[receptor complex] GO:0043565[sequence-specific DNA binding] GO:0045618[positive regulation of keratinocyte differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046697[decidualization] GO:0046872[metal ion binding] GO:0046965[nuclear retinoid X receptor binding] GO:0060558[regulation of calcidiol 1-monooxygenase activity] GO:0070561[vitamin D receptor signaling pathway] GO:0070564[positive regulation of vitamin D receptor signaling pathway] GO:0070644[vitamin D response element binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1902098[calcitriol binding] GO:1902121[lithocholic acid binding]
The Human Protein Atlas project is funded
