LongevityMap Gene
Gene details
- HGNC symbol
- VDR
- Aliases
- NR1I1; PPP1R163
- Common name
- vitamin D (1,25- dihydroxyvitamin D3) receptor
- Description
- 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 different proteins. [provided by RefSeq, Feb 2011]
- Cytogenetic Location
- 12q13.11
- UCSC Genome Browser
- View 12q13.11 on the UCSC genome browser
- OMIM
- 601769
- Ensembl
- ENSG00000111424
- UniProt/Swiss-Prot
- F1D8P8_HUMAN
- Entrez Gene
- 7421
- UniGene
- 524368
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge
- This gene is present as VDR
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Spanish
- Study Design
- Five polymorphisms in the VDR gene were genotyped in 104 octogenarians (85 years) and 114 controls (17-40 years).
- Conclusions
- Although differences in genotype and allele distribution did not reach statistical significance, haplotype distribution was distinctive, mainly for 30 region haplotypes and particularly in males.
- Indentifier
- rs11568820
- Reference