VDR

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 sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the 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. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq]

Full Name

VDR

Function

Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179).
Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609).
The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609).
Plays a central role in calcium homeostasis (By similarity).

Biological Process

Biological Process apoptotic process involved in mammary gland involution Source:Ensembl
Biological Process bile acid signaling pathway Source:UniProtKB1 Publication
Biological Process calcium ion transport Source:Ensembl
Biological Process cell differentiation Source:GO_Central1 Publication
Biological Process cell morphogenesis Source:UniProtKB1 Publication
Biological Process cellular calcium ion homeostasis Source:Ensembl
Biological Process decidualization Source:BHF-UCL1 Publication
Biological Process intestinal absorption Source:Ensembl
Biological Process lactation Source:Ensembl
Biological Process mammary gland branching involved in pregnancy Source:Ensembl
Biological Process mRNA transcription by RNA polymerase II Source:ComplexPortal1 Publication
Biological Process negative regulation of cell population proliferation Source:BHF-UCL1 Publication
Biological Process negative regulation of DNA-templated transcription Source:MGI1 Publication
Biological Process negative regulation of keratinocyte proliferation Source:UniProtKB1 Publication
Biological Process negative regulation of transcription by RNA polymerase II Source:BHF-UCL1 Publication
Biological Process positive regulation of apoptotic process involved in mammary gland involution Source:Ensembl
Biological Process positive regulation of bone mineralization Source:ComplexPortal1 Publication
Biological Process positive regulation of gene expression Source:UniProtKB1 Publication
Biological Process positive regulation of keratinocyte differentiation Source:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase II Source:ComplexPortal1 Publication
Biological Process positive regulation of vitamin D 24-hydroxylase activity Source:BHF-UCL1 Publication
Biological Process positive regulation of vitamin D receptor signaling pathway Source:ComplexPortal1 Publication
Biological Process regulation of calcidiol 1-monooxygenase activity Source:BHF-UCL
Biological Process skeletal system development Source:Ensembl
Biological Process vitamin D receptor signaling pathway Source:BHF-UCL1 Publication

Cellular Location

Nucleus
Cytoplasm
Localizes mainly to the nucleus (PubMed:28698609, PubMed:12145331).
Translocated into the nucleus via both ligand-dependent and ligand-independent pathways; ligand-independent nuclear translocation is mediated by IPO4 (PubMed:16207705).

Involvement in disease

Rickets vitamin D-dependent 2A (VDDR2A):
A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.