Vitamin D Receptor

Alternative Names

  • VDR
  • 1,25-Dihydroxyvitamin D3 Receptor
  • Vitamin D Hormone Receptor
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OMIM Number

601769

NCBI Gene ID

7421

Uniprot ID

P11473

Length

101,512 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Vitamin D3 Receptor

Molecular Mass

48289 Da

Amino Acid Count

427

Genomic Location

chr12:47,841,537-47,943,048

Gene Map Locus
12q13.11

Description

The Vitamin D receptor (VDR), a nuclear hormone receptor for vitamin D3, is a protein that mediates the physiological actions of vitamin D by behaving as both a receptor for the vitamin, as well as a transcription factor for target genes. VDR is a member of the NR1I family, which also includes pregnane X (PXR) and constitutive androstane (CAR) receptors that form heterodimers with members of the retinoid X receptor family.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NG_008731.1:g.1270G>ALebanonchr12:47908762AssociationNG_008731.1:g.1270G>A; NG_008731.1:g.1270G>A11568820
NM_000376.2:c.1024+283G>ALebanonNC_000012.12:g.47846052C>TAssociationProstate Cancer; Prostatic Hyperplasia, BenignNG_008731.1:g.63980G>A; NM_000376.2:c.1024+283G>A1544410
NM_000376.3:c.1025-49G>TLebanonNC_000012.12:g.47845054C>AAssociationProstate Cancer; Prostatic Hyperplasia, BenignNG_008731.1:g.64978G>T; NM_000376.3:c.1025-49G>T7975232
NM_000376.3:c.1056T>CLebanon; United Arab E...NC_000012.12:g.47844974A>GBenign,Likely BenignProstate CancerNG_008731.1:g.65058T>C; NM_000376.3:c.1056T>C; NP_000367.1:p.Ile352=731236308877
NM_000376.3:c.2T>GLebanonNC_000012.12:g.47879112A>CBenign,Drug ResponseNG_008731.1:g.30920T>G; NM_000376.3:c.2T>G; NP_001361590.1:p.Met1Thr2228570308887
NM_001017535.1:c.1171C>ALebanonchr12:47844859PathogenicVitamin D-Dependent Rickets, Type IING_008731.1:g.65173C>A; NM_001017535.1:c.1171C>A; NP_001017535.1:p.Arg391Ser121909800264696
NM_001017535.1:c.1190A>CLebanonchr12:47844840PathogenicVitamin D-Dependent Rickets, Type IING_008731.1:g.65192A>C; NM_001017535.1:c.1190A>C; NP_001017535.1:p.His397Pro886037890264697
NM_001364085.1:c.137G>TSaudi Arabiachr12:47878977PathogenicVitamin D-Dependent Rickets, Type IING_008731.1:g.31055G>T; NM_001364085.1:c.137G>T; NP_001351014.1:p.Gly46Val1219097977753
NM_001364085.1:c.821G>AUnited Arab Emirateschr12:47846743PathogenicVitamin D-Dependent Rickets, Type IING_008731.1:g.63289G>A; NM_001364085.1:c.821G>A; NP_001351014.1:p.Arg274His1219097967752
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