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VDR Gene

protein-coding GIFtS: 72

GC12M046521

vitamin D (1,25- dihydroxyvitamin D3) receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
NR1I1 ^¹, ², ³

Descriptions
1,25-dihydroxyvitamin D3 receptor ^³
Nuclear receptor subfamily 1 group I member 1 ^³
vitamin D (1,25- dihydroxyvitamin D3) receptor ^²
vitamin D (1,25-dihydroxyvitamin D3) receptor ^²

External Ids
HGNC: 12679¹
Entrez Gene: 7421²
UniProtKB: P11473³
Ensembl: ENSG00000111424⁷

Search outside databases for aliases for VDR gene

Previous GC identifers: GC12M048247 GC12M048134 GC12M047952

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for VDR:

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 the same protein. [provided

by RefSeq]

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473

Function: Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by

controlling the expression of hormone sensitive genes. Regulates transcription of hormone

sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex.

Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which

mediates the interaction with acetylated histones, an essential step for VDR-promoter association.

Plays a central role in calcium homeostasis

Gene Wiki entry for VDR (Calcitriol_receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the VDR gene

Entrez Gene cytogenetic band: 12q13.11 Ensembl cytogenetic band: 12q13.11 HGNC cytogenetic band: 12q12-q14

VDR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M046521: (about GC identifiers)

Start:	46,521,587 bp from pter
End:	46,585,081 bp from pter
Size:	63,495 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000012.10 NT_029419.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473 (See protein sequence)

Recommended Name: Vitamin D3 receptor

Size: 427 amino acids; 48289 Da

Subunit: Homodimer in the absence of bound vitamin D3. Heterodimer with RXRA after vitamin D3

binding. Interacts with SMAD3. Interacts with MED1, NCOA1, NCOA2, NCOA3 and NCOA6 coactivators,

leading to a strong increase of transcription of target genes. Interacts (in a ligand-dependent

manner) with BAZ1B/WSTF

Subcellular location: Nucleus

Caution: It is uncertain whether Met-1 or Met-4 is the initiator

Sequence caution: Sequence=AAP88938.1; Type=Erroneous gene model prediction;

PDB structures from and Proteopedia :

1DB1 (3D)

1IE8 (3D)

1IE9 (3D)

1KB2 (3D)

1KB4 (3D)

1KB6 (3D)

1S0Z (3D)

1S19 (3D)

1TXI (3D)

1YNW (3D)

2HAM (3D)

2HAR (3D)

2HAS (3D)

2HB7 (3D)

2HB8 (3D)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000367.1 NP_001017535.1

ENSEMBL proteins:

ENSP00000229022 ENSP00000378734

Human Recombinant Proteins

	Invitrogen human recombinant proteins for VDR
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for VDR
	Recombinant Proteins from Abcam (Vitamin D Receptor )
	Human Recombinant Proteins from Abnova (VDR)

OriGene Purified Recombinant Human Protein: VDR

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

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Antibodies for VDR:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of VDR
	Sigma-Aldrich Antibodies for VDR
	R&D Systems Antibodies for VDR (VDR/NR1I1)
	Antibodies from Abcam (Vitamin D Receptor ), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (VDR)
	Novus Biologicals Antibodies for VDR

Assays for VDR:

	Invitrogen Assays for VDR
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P11473

ProtoNet protein and cluster: P11473

2 Blocks protein families:

IPB000324 Vitamin D receptor signature

IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a

C-terminal steroid-binding domain

Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (VDR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (VDR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000376

Applied Biosystems Silencer® siRNAs for VDR

Sigma-Aldrich siRNA and siRNA Panels for VDR

Sigma-Aldrich shRNA Panels and shRNA for VDR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for VDR
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000376
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000376
untagged cDNA clones in CMV expression vector (see all 2): NM_000376

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000376

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473

Function: Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by

controlling the expression of hormone sensitive genes. Regulates transcription of hormone

sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex.

Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which

mediates the interaction with acetylated histones, an essential step for VDR-promoter association.

Plays a central role in calcium homeostasis

Genatlas biochemistry entry for VDR:

vitamin D (1,25-dihydroxyvitamin D3) receptor,48kDa,nuclear steroid/thyroid hormone receptor

superfamily,heterodimerizing with retinoic acid X receptors RXR*

15/19 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Vdr) (see all 19 ):

	behavior/neurological	craniofacial	digestive/alimentary	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system
life span-post-weaning/aging	limbs/digits/tail	nervous system	no phenotypic analysis	renal/urinary system

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	IEA	--
GO:0003707	steroid hormone receptor activity	IEA	--
GO:0005515	protein binding	IPI	10866662
GO:0008270	zinc ion binding	IEA	--
GO:0008434	vitamin D3 receptor activity	TAS	9070272

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for VDR (Your Favorite Gene powered by Ingenuity)

VDR/RXR Activation
TGF-&beta

GeneDecks VDR for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for VDR

5/100 Interacting proteins for VDR (P11473^{1, 2} ENSP00000229022³) via UniProtKB, MINT, and/or STRING (see all 100 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
Ncoa6 Ncoa6 (xeno)	Q9JLI4¹	EBI-286357, EBI-286271
HR	O43593²	MINT-18209
RXRA	ENSP00000348749³	STRING (score=.999)
NCOA2	ENSP00000267974³	STRING (score=.998)
MED1	ENSP00000300651³	STRING (score=.997)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006816	calcium ion transport	IEA	--
GO:0006874	cellular calcium ion homeostasis	IEA	--
GO:0007165	signal transduction	TAS	2849209

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for VDR

Sigma-Aldrich Small Molecules for VDR:

Antagonist

Compounds for VDR available from Tocris Bioscience

Compound	Action	CAS number
Calcitriol	Vitamin D receptor (VDR) agonist	[32222-06-3]
Calcipotriol	Vitamin D3 analog	[112965-21-6]
Doxercalciferol	Vitamin D2 analog, VDR agonist	[54573-75-0]

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10/22 Novoseek chemical compound relationships for VDR gene (see all 22 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
1,25 dihydroxy vitamin d3	96.02	487	8807569 (6), 17520689 (5), 1849039 (5), 9579411 (4) (see all 99)
apai	94.15	167	16100768 (3), 17704996 (3), 10491209 (3), 8806247 (2) (see all 99)
1alpha-hydroxyvitamin d5	77.85	2	17130524 (1), 10762752 (1)
calcium	73.70	554	18556746 (8), 17204417 (6), 15252846 (5), 9164821 (4) (see all 99)
androstane	73.06	22	12746335 (2), 17132852 (2), 15905360 (1), 15608136 (1) (see all 16)
apal	70.17	7	15977460 (3), 10758594 (1), 11579931 (1), 15503828 (1)
steroid	66.44	153	1847660 (3), 9440810 (2), 9671457 (2), 10406465 (2) (see all 99)
xbai	65.91	30	14725686 (2), 9556070 (1), 14505233 (1), 12879219 (1) (see all 21)
vitamin d5	62.44	1	17644135 (1)
previtamin d(3)	62.34	1	10876100 (1)

About this table

10/11 PharmGKB drug compound relationships for VDR gene (see all 11 )

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
alendronate	PD	12608943
asparaginase	CO	15713801
cytarabine	CO	15713801
daunorubicin	CO	15713801
estrogens	CO GN	11910656
etoposide	CO	15713801
mercaptopurine	CO	15713801
methotrexate	CO	15713801
prednisone	CO	15713801
vincristine	CO	15713801

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (VDR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (VDR)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000376

Sigma-Aldrich siRNA and siRNA Panels for VDR

Sigma-Aldrich shRNA Panels and shRNA for VDR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000376 NM_001017535

REFSEQ mRNAs for VDR gene (2 alternative transcripts):

NM_000376.2 NM_001017535.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000376 NM_001017535

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000376
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000376
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000376

Additional cDNA sequence:

AB307700.1 AF026260.1 AK024830.1 AK225844.1 AK299446.1 AK309587.1 AK312267.1 BC033465.1

BC060832.1 J03258.1 M65208.1 X67482.1

9 DOTS entries:

DT.453125 DT.95169917 DT.100746083 DT.121152042 DT.91733040 DT.100754577 DT.100754579 DT.121152020

DT.91733061

24/209 AceView cDNA sequences (see all 209 ):

BM764797 AI222526 BM783434 AI764972 BF594290 AA485226 AW135751 BM746741

BM908433 BE858037 BX482193 BC033465 BM855050 AI276169 AW139900 CA770971

M65208 X67482 AI087232 BF588580 AW351784 AI356723 AI087278 AW517434

highest scoring ESTs for VDR:

J03258 BC033465 BC060832 BI823001 BX480640 CF138099 CF593960 CF594308 AA009969 AA024506

Unigene Cluster for VDR:

Vitamin D (1,25- dihydroxyvitamin D3) receptor

Hs.524368 [show with all ESTs]

Unigene Representative Sequence: NM_001017535

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for VDR

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10
SP1:							-		-
SP2:									-
SP3:							-		-		-
SP4:

About this scheme

ECgene alternative splicing isoforms for VDR

2 Ensembl transcripts including schematic representations:

ENST00000229022 ENST00000395324

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

VDR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for VDR

¹ / ² / ³

8 probe-sets matching VDR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1410_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.96	J03258	1.00	1.00	1.00	1
1388_g_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.06	J03258	1.00	1.00	1.00	1
204255_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA772285	0.60	1.00	0.82	1
204254_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000376	0.60	1.00	0.82	1
204253_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA454701	0.60	1.00	0.82	1
204255_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204254_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204253_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks VDR for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTGGCGCAAG

SOURCE GeneReport for Unigene cluster: Hs.524368
Expression variation in blood from EXPOLDB for VDR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for VDR gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	VDR¹	--	vitamin D (1,25- dihydroxyvitamin D3) receptor	91.1(n) 92.74(a)	486588 XM_543714.2 XP_543714.2
cow (Bos taurus)	VDR¹	--	vitamin D (1,25- dihydroxyvitamin D3) receptor	89.49(n) 90.82(a)	533656 XM_613129.3 XP_613129.2
rat (Rattus norvegicus)	Vdr¹	--	vitamin D (1,25- dihydroxyvitamin D3) receptor	87.16(n) 90.31(a)	24873 NM_017058.1 NP_058754.1
mouse (Mus musculus)	Vdr^{1, 5}	15⁵	vitamin D receptor^{1, 5}	86.81(n)¹ 89.1(a)¹	22337¹ NM_009504.3¹ NP_033530.2¹ AF017779⁵ AK030339⁵ (see all 12)
chicken (Gallus gallus)	VDR¹	--	vitamin D (1,25- dihydroxyvitamin D3) receptor	77.54(n) 80.28(a)	395988 NM_205098.1 NP_990429.1

About this table Species with no ortholog for VDR

ENSEMBL Gene Tree for VDR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for VDR gene

THRA² NR1I2² NR1I3² THRB²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473

Polymorphism: Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility

[MIM:607948]

10/608 NCBI SNPs in VDR are shown (see all 608 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 215)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs4516035^1,2	A,C,F,H	46586093(+)	`GAAGAT/CATTGC`	2	--	ng3¹		21	EU EA WA NS NA	15502
	rs2853563^1,2	A,C,F,H	46522005(-)	`AAAAGG/ATCATC`	2	--	ut3¹ ese³ trp³		18	NS EU EA WA NA	2230
--	rs9729^1,2	A,C,F,H	46522890(-)	`TCATTA/C/GAGGAA`	2	--	ut3¹ ese³		14	MN NS NA EU EA WA	1898
	rs7139166^1,2	A,C,F,H	46586601(+)	`AGCATC/GGTGGG`	2	--	ng3¹		16	MN EU EA WA NS	2266
	rs739837^1,2	A,C,F,H	46524488(+)	`ACTTAT/GGCAGC`	2	--	ut3¹ ese³		20	MN EU EA WA NS NA	15530
	rs11168293^1,2	A,C,F,H	46579983(+)	`TCTCCG/TTCCAG`	2	--	ut5¹ int¹ ese³		8	EU EA WA	832
	rs3847987^1,2	A,C,F,H	46524335(+)	`GTGGGC/ACGATT`	2	--	ut3¹		24	MN EU EA WA NS NA	15792
	rs7954412^1,2	C,F,H	46523554(+)	`TGGGCT/CGGGCT`	2	--	ut3¹ ese³		4	EU EA WA	416
	rs11574143^1,2	C,F,H	46521184(-)	`CGGCTG/ATGCCA`	2	--	ng5¹		5	NS EU EA WA	594
	rs11168263^1,2	C,F,H	46522203(-)	`CTATAA/GCATGC`	2	--	ut3¹		5	NS EU EA WA	596

About this table

HapMap Linkage Disequilibrium images for VDR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601769 disorders: 277440 166710

UniProtKB/Swiss-Prot: VDR_HUMAN, P11473

Defects in VDR are the cause of type IIA rickets [MIM:277440]; also known as hypocalcemic

vitamin D-resistant rickets (HVDRR). HVDRR is most frequently an autosomal recessive disorder

characterized by severe rickets, hypocalcemia and secondary hyperparathyroidism

10/96 Novoseek disease relationships for VDR gene (see all 96 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hvdrr	92.97	97	17106204 (4), 9005998 (3), 15190891 (3), 17071612 (3) (see all 35)
rickets	82.95	119	14746673 (3), 17202743 (3), 11092401 (3), 9005998 (2) (see all 52)
hyperparathyroidism secondary	82.20	64	8807569 (2), 12234290 (2), 12771291 (2), 9844148 (2) (see all 38)
vitamin d deficiency	79.20	28	14746673 (3), 16083553 (2), 16613705 (2), 10696983 (1) (see all 17)
osteoporosis	77.34	220	9656208 (4), 14527203 (3), 9069156 (3), 10322698 (3) (see all 99)
hypercalcemia	70.46	16	11033842 (3), 16528410 (2), 18180267 (2), 11562285 (1) (see all 11)
rickets hypophosphatemic	68.83	41	16753019 (4), 18827005 (3), 11386849 (2), 12612432 (2) (see all 21)
parathyroid hyperplasia	68.13	11	11780466 (1), 18216322 (1), 16076355 (1), 8397225 (1) (see all 8)
vitamin d-dependent rickets, type ii	67.25	4	11344183 (2), 9275211 (1), 9702072 (1)
hypercalciuria	67.23	23	10232686 (1), 10491744 (1), 15141345 (1), 16775452 (1) (see all 14)

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4 PharmGKB disease relationships for VDR gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Bone Resorption	CO GN	11910656
Leukemia, Lymphocytic, Acute, L1	CO	15713801
Osteoporosis	PD	12608943
Rickets	FA	2849209

About this table

Genatlas disease: VDR

rickets,vitamin D-dependent,type II,with alopecia

Human Gene Mutation Database: VDR
Genetic Association Database: VDR
Human Genome Epidemiology Navigator: VDR (586 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Researchers Find Gene Associated With Higher Risk For Osteoporosis

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1777 PubMed articles for VDR gene (see all 1777 ):

Vitamin D receptor and estrogen receptor gene polymorphisms in postmenopausal Danish women: no relation to bone markers or serum lipoproteins. (PubMed id 11910656)^{1, 3, 6, 7} Bagger Y.Z....Christiansen C. (2000)
Effectiveness of alendronate treatment in postmenopausal women with osteoporosis: relationship with BsmI vitamin D receptor genotypes. (PubMed id 12608943)^{1, 3, 7} Palomba S....Nunziata V. (2003)
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. (PubMed id 2849209)^{3, 4, 7} Hughes M.R.... O'Malley B.W. (1988)
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. (PubMed id 8675579)^{1, 3, 4} Lin U.-T.... Feldman D. (1996)
[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes] (PubMed id 15552843)^{1, 3, 6} Brodowska A. (2003)
Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes. (PubMed id 11335187)^{1, 3, 6} Lee B.K....Schwartz B.S. (2001)
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. (PubMed id 9005998)^{1, 3, 4} Malloy P.J....Feldman D. (1997)
Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures. (PubMed id 7828346)^{1, 3, 4} Rut A.R....O'Riordan J.L.H. (1994)
Association of the vitamin D receptor genotype with bone metastases in breast cancer patients. (PubMed id 12566913)^{1, 3, 6} Schondorf T....Gohring U.J. (2003)
Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. (PubMed id 11461072)^{1, 3, 6} Bretherton-Watt D....Colston K.W. (2001)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7421	HGNC: 12679	AceView: VDR	Ensembl:ENSG00000111424	euGenes: HUgn7421
ECgene: VDR	H-InvDB: VDR

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=VDR
NIEHS-SNPs	http://egp.gs.washington.edu/data/vdr/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=VDR

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for VDR:

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VDR Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for VDR

Summaries
for VDR

Genomic Location
for VDR

Proteins
for VDR

Protein Domains/
Families
for VDR

Gene Function
for VDR

Pathways & Interactions
for VDR

Drugs & Compounds
for VDR

Transcripts
for VDR

Expression
for VDR

Orthologs
for VDR

Paralogs
for VDR

SNPs/Variants
for VDR

Disorders & Mutations
for VDR

Medical News
for VDR

Publications
for VDR

Search for VDR

Genome Databases showing VDR

Other Databases showing VDR

Specialized Databases showing VDR

Licensable Technologies
for VDR

Services
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

VDR Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor VDR

Summariesfor VDR

Genomic Locationfor VDR

Proteinsfor VDR

Protein Domains/Familiesfor VDR

Gene Functionfor VDR

Pathways & Interactionsfor VDR

Drugs & Compoundsfor VDR

Transcriptsfor VDR

Expression for VDR

Orthologsfor VDR

Paralogsfor VDR

SNPs/Variantsfor VDR

Disorders & Mutationsfor VDR

Medical Newsfor VDR

Publicationsfor VDR

Search for VDR

Genome Databases showing VDR

Other Databases showing VDR

Specialized Databases showing VDR

Licensable Technologiesfor VDR

Servicesfor VDR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for VDR

Summaries
for VDR

Genomic Location
for VDR

Proteins
for VDR

Protein Domains/
Families
for VDR

Gene Function
for VDR

Pathways & Interactions
for VDR

Drugs & Compounds
for VDR

Transcripts
for VDR

Expression
for VDR

Orthologs
for VDR

Paralogs
for VDR

SNPs/Variants
for VDR

Disorders & Mutations
for VDR

Medical News
for VDR

Publications
for VDR

Licensable Technologies
for VDR

Services
for VDR