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

Danio rerio
vdrb
Mus musculus
Vdr
Rattus norvegicus
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