Vitamin D Receptor

Alternative Names

VDR
1,25-Dihydroxyvitamin D3 Receptor
Vitamin D Hormone Receptor

Length

101,512 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NG_008731.1:g.1270G>A	Lebanon	chr12:47908762		Association		NG_008731.1:g.1270G>A; NG_008731.1:g.1270G>A	11568820
NM_000376.2:c.1024+283=	United Arab Emirates	NC_000012.12:g.47846052=		Protective	Asthma, Susceptibility to; Obesity	NG_008731.1:g.63980=; NM_000376.2:c.1024+283=; NP_000367.1:p.?	1544410
NM_000376.2:c.1024+283G>A	Lebanon; United Arab E...	NC_000012.12:g.47846052C>T	Benign	Association, Benign	Type 2 Diabetes Mellitus; Prostate Cancer; Obesity; Prostatic Hyperplasia, Benign	NG_008731.1:g.63980G>A; NM_000376.2:c.1024+283G>A; NP_000367.1:p.?	1544410	1259287
NM_000376.2:c.1056=	United Arab Emirates	NC_000012.12:g.47844974=		Protective	Asthma, Susceptibility to	NG_008731.1:g.65058T=; NM_000376.2:c.1056=; NP_000367.1:p.Ile352=	731236
NM_000376.3:c.1025-49G>T	Lebanon; United Arab E...	NC_000012.12:g.47845054C>A	Benign	Association, Benign	Asthma, Susceptibility to; Prostate Cancer; Prostatic Hyperplasia, Benign	NG_008731.1:g.64978G>T; NM_000376.3:c.1025-49G>T; NP_000367.1:p.?	7975232	1252227
NM_000376.3:c.1056T>C	Lebanon; United Arab E...	NC_000012.12:g.47844974A>G	Benign, Likely Benign	Association, Benign, Likely Benign	Type 2 Diabetes Mellitus; Prostate Cancer	NG_008731.1:g.65058T>C; NM_000376.3:c.1056T>C; NP_000367.1:p.Ile352=	731236	308877
NM_000376.3:c.2T>G	Lebanon; United Arab E...	NC_000012.12:g.47879112A>C	Benign, Likely Pathogenic	Benign		NG_008731.1:g.30920T>G; NM_000376.3:c.2T>G; NP_000367.1:p.Met1?	2228570	308887
NM_000376.3:c.821G>A	United Arab Emirates	NC_000012.12:g.47846743C>T	Likely Pathogenic	Pathogenic	Vitamin D-Dependent Rickets, Type II	NG_008731.1:g.63289G>A; NM_000376.3:c.821G>A; NP_000367.1:p.Arg274His	121909796	915348
NM_001017535.1:c.1171C>A	Lebanon	chr12:47844859	Pathogenic	Pathogenic	Vitamin D-Dependent Rickets, Type II	NG_008731.1:g.65173C>A; NM_001017535.1:c.1171C>A; NP_001017535.1:p.Arg391Ser	121909800	264696
NM_001017535.1:c.1190A>C	Lebanon	chr12:47844840	Pathogenic	Pathogenic	Vitamin D-Dependent Rickets, Type II	NG_008731.1:g.65192A>C; NM_001017535.1:c.1190A>C; NP_001017535.1:p.His397Pro	886037890	264697
NM_001364085.1:c.137G>T	Saudi Arabia	chr12:47878977	Pathogenic	Pathogenic	Vitamin D-Dependent Rickets, Type II	NG_008731.1:g.31055G>T; NM_001364085.1:c.137G>T; NP_001351014.1:p.Gly46Val	121909797	7753

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External Links

https://medlineplus.gov/genetics/gene/vdr/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=vdr

Contributors

Asha Deepthi: 17.08.2022
Pratibha Nair: 08.03.2022
Asha Deepthi: 15.07.2021
Sami Bizzari: 28.03.2021
Asha Deepthi: 28.02.2021
Pratibha Nair: 13.08.2020
Pratibha Nair: 06.05.2020
Sayeeda Hana: 16.08.2019
Sayeeda Hana: 09.06.2017
Pratibha Nair: 13.06.2013
Nada Assaf: 14.05.2013
Ghazi O. Tadmouri: 17.04.2013
Pratibha Nair: 31.03.2013

Edit History

Asha Deepthi: 17.08.2022
Pratibha Nair: 08.03.2022
Asha Deepthi: 15.07.2021
Pratibha Nair: 04.05.2021
Sami Bizzari: 28.03.2021
Asha Deepthi: 28.02.2021
Pratibha Nair: 13.08.2020
Pratibha Nair: 06.05.2020
Sayeeda Hana: 20.08.2019
Sayeeda Hana: 16.08.2019
Pratibha Nair: 14.08.2017
Pratibha Nair: 15.07.2013
Pratibha Nair: 18.04.2013
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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