Symbol
| VDR
| contributors: mct/npt/pgu - updated : 01-10-2017
|
HGNC name
| vitamin D (1,25- dihydroxyvitamin D3) receptor
|
HGNC id
| 12679
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
| --low
|  
|
in colorectal cancer with poor differentiation | constitutional
|  
|  
| --low
|  
|
in lungs of patients with chronic obstructive pulmonary disease (COPD) | constitutional
|  
| deletion
|  
|  
|
leads to premature emphysema/COPD by increased matrix metalloproteinases and lymphoid aggregates formation | |
Susceptibility
|
to osteoporosis to higher adult height to lower circulating vitamin D and lower height in adolescent girl to idiopathic short stature to obstructive sleep apnea syndrome (OSAS) |
Variant & Polymorphism
SNP
, other
| A>G at intron 8 associated with higher adult height |
|
T>C at exon 9 associated with higher adult height |
|
homozygous 1521C/1012G associated with lower circulating vitamin D and lower height in adolescent girl |
|
SNP associated to idiopathic short stature |
|
VDR mutations were found highly related with OSAS |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | digestive | colon | |
therapy target for colorectal cancer | immunology | autoimmune | | |
VDR/MED1 interaction is of potential therapeutic interest |
| | | |
| VDR null mice exhibit abnormal cutaneous barrier function with altered lipid composition | |
significant increase in infiltration of macrophages into the lung interstitium of VDR-/- mice, but not in WT |
|
|