This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabo... See more...

Aliases for VDR Gene

Aliases for VDR Gene

  • Vitamin D Receptor 2 3 5
  • Vitamin D (1,25- Dihydroxyvitamin D3) Receptor 2 3
  • Nuclear Receptor Subfamily 1 Group I Member 1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 163 2 3
  • 1,25-Dihydroxyvitamin D3 Receptor 3 4
  • Vitamin D3 Receptor 3 4
  • NR1I1 3 4
  • Vitamin D Nuclear Receptor Variant 1 3
  • 1,25- Dihydroxyvitamin D3 Receptor 2
  • PPP1R163 3

External Ids for VDR Gene

Previous GeneCards Identifiers for VDR Gene

  • GC12M048247
  • GC12M048134
  • GC12M047952
  • GC12M046521
  • GC12M045266

Summaries for VDR Gene

Entrez Gene Summary for VDR Gene

  • This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]

GeneCards Summary for VDR Gene

VDR (Vitamin D Receptor) is a Protein Coding gene. Diseases associated with VDR include Vitamin D-Dependent Rickets, Type 2A and Rickets. Among its related pathways are Direct p53 effectors and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is NR1I2.

UniProtKB/Swiss-Prot Summary for VDR Gene

  • Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity).

Tocris Summary for VDR Gene

  • Vitamin D receptors (VDRs) are members of the NR1I family, which also includes pregnane X receptors (PXR) and constitutive androstane receptors (CAR). They form heterodimers with retinoid X receptor family members, and are expressed in the intestine, thyroid and kidney.

Gene Wiki entry for VDR Gene

PharmGKB "VIP" Summary for VDR Gene

Additional gene information for VDR Gene

No data available for CIViC Summary , Rfam classification and piRNA Summary for VDR Gene

Genomics for VDR Gene

GeneHancer (GH) Regulatory Elements for VDR Gene

Promoters and enhancers for VDR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J047902 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 517 +38.6 38640 3.6 ZNF217 CTCF JUND FOS ZNF639 ZIC2 REST POLR2A ZBTB10 CLOCK VDR ENSG00000278385 DDX23 CCNT1 LOC390314 KANSL2 HDAC7 SENP1 ZNF641 ASB8
GH12J047942 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 510.3 -0.6 -610 1.4 ZBTB10 ZEB1 ZNF316 MAFF MAFK ELF1 GATA3 NR2F1 MAFG TCF7L2 VDR TMEM106C HSALNG0090808
GH12J047943 Promoter/Enhancer 1.1 Ensembl CraniofacialAtlas dbSUPER 512.7 +0.8 838 0.8 CTCF ZBTB10 ZEB1 PCBP1 RAD21 EGR1 ZEB2 CTCFL ZNF143 EZH2 VDR HSALNG0090807
GH12J047940 Enhancer 0.3 dbSUPER 520.4 +1.8 1771 1.1 SPI1 EZH2 VDR HSALNG0090807
GH12J047887 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 30.6 +51.8 51786 7.1 ZBTB40 RFX1 POLR2A ZNF316 MAFF GABPA CTCF MAFK SPI1 EBF1 VDR TMEM106C ASB8 HDAC7 RAPGEF3 SLC48A1 CCDC184 ENSG00000257433 H1-7 ENSG00000197376
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VDR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VDR

Top Transcription factor binding sites by QIAGEN in the VDR gene promoter:
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for VDR Gene

Genomic Locations for VDR Gene
chr12:47,841,537-47,943,048
(GRCh38/hg38)
Size:
101,512 bases
Orientation:
Minus strand
chr12:48,235,320-48,336,831
(GRCh37/hg19)
Size:
101,512 bases
Orientation:
Minus strand

Genomic View for VDR Gene

Genes around VDR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VDR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VDR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VDR Gene

Proteins for VDR Gene

  • Protein details for VDR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11473-VDR_HUMAN
    Recommended name:
    Vitamin D3 receptor
    Protein Accession:
    P11473
    Secondary Accessions:
    • B2R5Q1
    • G3V1V9
    • Q5PSV3

    Protein attributes for VDR Gene

    Size:
    427 amino acids
    Molecular mass:
    48289 Da
    Quaternary structure:
    • Homodimer in the absence of bound vitamin D3 (PubMed:11980721). Heterodimer with RXRA after vitamin D3 binding (PubMed:15225774, PubMed:11980721, PubMed:10678179). Interacts with MED1, NCOA1, NCOA2, NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes (PubMed:10866662, PubMed:15728261, PubMed:28698609, PubMed:9267036). Interacts with the corepressor NCOR1 (PubMed:28698609). Interacts with SNW1 (PubMed:9632709). Interacts with IRX4, the interaction does not affect its transactivation activity (PubMed:22323358). Interacts with CRY1 (By similarity). Interacts with CRY2 in a ligand-dependent manner (By similarity).
    SequenceCaution:
    • Sequence=AAH60832.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAP88938.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VDR Gene

    Alternative splice isoforms for VDR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VDR Gene

Post-translational modifications for VDR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for VDR Gene

Domains & Families for VDR Gene

Gene Families for VDR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors
  • Transporters

Protein Domains for VDR Gene

Blocks:
  • Steroid hormone receptor signature
  • Vitamin D receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VDR Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51539, highly similar to Vitamin D3 receptor (B4DRV7_HUMAN)
  • Vitamin D (1,25-dihydroxyvitamin D3) receptor (B6ZGT0_HUMAN)
  • Vitamin D nuclear receptor variant 1 (F1D8P8_HUMAN)
  • Vitamin D receptor (Q6SZ90_HUMAN)
  • Vitamin D receptor (Q6T928_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11473

UniProtKB/Swiss-Prot:

VDR_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with VDR: view

Function for VDR Gene

Molecular function for VDR Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity).
GENATLAS Biochemistry:
vitamin D (1,25-dihydroxyvitamin D3) receptor,48kDa,nuclear steroid/thyroid hormone receptor superfamily,heterodimerizing with retinoic acid X receptors RXR*

Phenotypes From GWAS Catalog for VDR Gene

Gene Ontology (GO) - Molecular Function for VDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IDA,IEA 11891224
GO:0003700 contributes_to DNA-binding transcription factor activity IDA,IEA 17426122
genes like me logo Genes that share ontologies with VDR: view
genes like me logo Genes that share phenotypes with VDR: view

Human Phenotype Ontology for VDR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VDR Gene

MGI Knock Outs for VDR:
  • Vdr Vdr<tm1.2Sgcg>
  • Vdr Vdr<tm1Mbd>
  • Vdr Vdr<tm1Ska>
  • Vdr Vdr<tm1Tyam>
  • Vdr Vdr<tm1.1Gcm>
  • Vdr Vdr<tm1Rge>
  • Vdr Vdr<tm1.1Pcn>

miRNA for VDR Gene

miRTarBase miRNAs that target VDR
Targeted motifs for VDR Gene
HOMER Transcription Factor Regulatory Elements motif VDR
  • Consensus sequence: NGAGGTCANNGAGTTCANNN Submotif: DR3 Cell Type: GM10855 GEO ID: GSE22484

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for VDR Gene

Localization for VDR Gene

Subcellular locations from UniProtKB/Swiss-Prot for VDR Gene

Nucleus. Cytoplasm. Note=Localizes mainly to the nucleus (PubMed:28698609, PubMed:12145331). Localization to the nucleus is enhanced by vitamin D3. {ECO:0000269 PubMed:12145331, ECO:0000269 PubMed:28698609}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VDR gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 15589699
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with VDR: view

Pathways & Interactions for VDR Gene

genes like me logo Genes that share pathways with VDR: view

Pathways by source for VDR Gene

3 GeneGo (Thomson Reuters) pathways for VDR Gene
  • Development Role of Activin A in cell differentiation and proliferation
  • Development_Hedgehog and PTH signaling pathways in bone and cartilage development
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis
1 Cell Signaling Technology pathway for VDR Gene

SIGNOR curated interactions for VDR Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for VDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 17426122
GO:0000902 cell morphogenesis IMP 17223341
GO:0001501 skeletal system development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with VDR: view

Drugs & Compounds for VDR Gene

(143) Drugs for VDR Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcipotriol Approved Pharma Agonist, Target, antagonist Vitamin D3 analog,regulates cell differentiation and proliferation 0
Calcitriol Approved Nutra Target, antagonist TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 235
Doxercalciferol Approved Pharma Target, suppressor, antagonist Vitamin D receptor activator, Vitamin D2 analog, VDR agonist 0
Paricalcitol Approved, Investigational Pharma Target, agonist Analog of VD2 active form 0
Ergocalciferol Approved Nutra Target, agonist, antagonist 1534

(47) Additional Compounds for VDR Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
EB 1089
134404-52-7
EB1089
Agonist
KH1060
Agonist
TEI-9647
Antagonist
TV-02H
Agonist

(4) Tocris Compounds for VDR Gene

Compound Action Cas Number
Calcitriol Vitamin D receptor (VDR) agonist 32222-06-3
Doxercalciferol Vitamin D2 analog, VDR agonist 54573-75-0
EB 1089 Vitamin D receptor (VDR) agonist 134404-52-7
Ercalcitriol Active metabolite of vitamin D2 60133-18-8

(47) ApexBio Compounds for VDR Gene

Compound Action Cas Number
(24R)-MC 976 Vitamin D3 derivative 112828-09-8
(24S)-MC 976 112849-14-6
1alpha, 24, 25-Trihydroxy VD2 457048-34-9
1alpha, 25-Dihydroxy VD2-D6 216244-04-1
1alpha-Hydroxy VD4 143032-85-3
24, 25-Dihydroxy VD2 Synthetic analog of Vitamin D 58050-55-8
24, 25-Dihydroxy VD3 Vitamin D analogue 40013-87-4
24R-Calcipotriol 112827-99-3
25,26-Dihydroxyvitamin D3 29261-12-9
25-Hydroxy VD2-D6 Labelled metabolite of Vitamin D2 1262843-46-8
3-O-(2-Aminoethyl)-25-hydroxyvitamin D3 25-hydroxyvitamin D3-lα-hydroxylase inhibitor 163018-26-6
Alfacalcidol Bone resorption inhibitor 41294-56-8
Alfacalcidol-D6 VDR activator, novel and non-selective
Calcifediol Major circulating form of vitamin D3 19356-17-3
Calcifediol monohydrate Prehormone;vitamin D3 metabolite 63283-36-3
Calcifediol-D6 78782-98-6
Calcipotriol Vitamin D3 analog,regulates cell differentiation and proliferation 112965-21-6
Calcipotriol monohydrate Vitamin D3 analog,hydrate form,regulates cell differentiation and proliferation 147657-22-5
Calcitetrol 72203-93-1
Calcitriol TNF-α and IL-1β production inhibitor 32222-06-3
Calcitriol D6 78782-99-7
Calcitriol Derivatives Vitamin D receptor activator
Doxercalciferol Vitamin D receptor activator 54573-75-0
Doxercalciferol-D3
Eldecalcitol Analog of 1,25-dihydroxyvitamin D3 104121-92-8
Ercalcidiol Vitamin D2 metabolite,ligand of VDR-like receptors 21343-40-8
Ercalcitriol Active metabolite of vitamin D2 60133-18-8
Falecalcitriol Calcitriol analog 83805-11-2
Impurity B of Calcitriol 66791-71-7
Impurity C of Alfacalcidol 82266-85-1
Impurity C of Calcitriol 86307-44-0
Impurity of Calcipotriol 910133-69-6
Lexacalcitol Vitamin D analog 131875-08-6
Lithocholic Acid Activator of vitamin D receptor,PXR and FXR 434-13-9
Maxacalcitol Non-calcemic vitamin D3 analog and VDR ligand. 103909-75-7
Maxacalcitol-D6
MC 1046 Vitamin D3 analog 126860-83-1
MC 976 Vitamin D3 derivative 129831-99-8
Paricalcitol Analog of VD2 active form 131918-61-1
Paricalcitol-D6 Analog of VD2 active form
Secalciferol Vitamin D metabolite 55721-11-4
Seocalcitol Vitamin D receptor agonist 134404-52-7
Tacalcitol Promotes normal bone development by regulating calcium 57333-96-7
Tacalcitol monohydrate Promotes normal bone development by regulating calcium 93129-94-3
VD3-D6 118584-54-6
vitamin D binding protein precursor (353-363) [Homo sapiens] Highly polymorphic serum glycoprotein
Vitamin D3 Fat-soluble secosteroids 67-97-0
genes like me logo Genes that share compounds with VDR: view

Drug Products

Transcripts for VDR Gene

mRNA/cDNA for VDR Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

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

Relevant External Links for VDR Gene

GeneLoc Exon Structure for
VDR

Expression for VDR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VDR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VDR Gene

This gene is overexpressed in Colon - Transverse (x6.5) and Skin - Not Sun Exposed (Suprapubic) (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VDR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VDR

SOURCE GeneReport for Unigene cluster for VDR Gene:

Hs.524368

Evidence on tissue expression from TISSUES for VDR Gene

  • Blood(4.5)
  • Eye(4)
  • Thyroid gland(3.8)
  • Intestine(3.2)
  • Kidney(3.1)
  • Skin(3)
  • Bone(2.6)
  • Lung(2.1)
  • Heart(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VDR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with VDR: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for VDR Gene

Orthologs for VDR Gene

This gene was present in the common ancestor of animals.

Orthologs for VDR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VDR 30
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia VDR 31 30
  • 91.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VDR 31 30
  • 89.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vdr 30
  • 87.16 (n)
mouse
(Mus musculus)
Mammalia Vdr 17 31 30
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia VDR 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VDR 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves VDR 31 30
  • 76.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VDR 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vdr 30
  • 67.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia vdr-A 30
zebrafish
(Danio rerio)
Actinopterygii vdrb 31
  • 71 (a)
OneToMany
vdra 30
  • 70.32 (n)
VDR (1 of 2) 31
  • 67 (a)
OneToMany
vdr 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.668 30
fruit fly
(Drosophila melanogaster)
Insecta EcR 31
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for VDR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VDR Gene

ENSEMBL:
Gene Tree for VDR (if available)
TreeFam:
Gene Tree for VDR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VDR: view image

Paralogs for VDR Gene

(63) SIMAP similar genes for VDR Gene using alignment to 11 proteins:

  • VDR_HUMAN
  • B4DRV7_HUMAN
  • F8VPF8_HUMAN
  • F8VRJ4_HUMAN
  • F8VVY8_HUMAN
  • F8VXQ9_HUMAN
  • Q6SZ90_HUMAN
  • Q6T928_HUMAN
  • T1WRW3_HUMAN
  • T1WSH6_HUMAN
  • T1WSQ6_HUMAN
genes like me logo Genes that share paralogs with VDR: view

Variants for VDR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for VDR Gene

VDR_HUMAN-P11473
Genetic variations in VDR may determine Mycobacterium tuberculosis susceptibility [MIM:607948].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VDR Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
708021 Benign: not provided 47,846,426(-) C/T SYNONYMOUS_VARIANT
717364 Likely Benign: not provided 47,865,148(-) G/A MISSENSE_VARIANT
727362 Benign: not provided 47,844,957(-) C/T MISSENSE_VARIANT
731906 Likely Benign: not provided 47,865,051(-) C/T SYNONYMOUS_VARIANT
733434 Likely Benign: not provided 47,857,537(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for VDR Gene

Structural Variations from Database of Genomic Variants (DGV) for VDR Gene

Variant ID Type Subtype PubMed ID
esv8233 CNV gain 19470904
nsv975483 CNV duplication 23825009

Variation tolerance for VDR Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VDR Gene

Human Gene Mutation Database (HGMD)
VDR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VDR

SNP Genotyping and Copy Number Assay Products

Disorders for VDR Gene

MalaCards: The human disease database

(105) MalaCards diseases for VDR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vitamin d-dependent rickets, type 2a
  • vddr2a
rickets
  • active rickets
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
secondary hyperparathyroidism
  • hyperparathyroidism secondary
hyperparathyroidism
- elite association - COSMIC cancer census association via MalaCards
Search VDR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VDR_HUMAN
  • Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440]: A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. {ECO:0000269 PubMed:1652893, ECO:0000269 PubMed:17970811, ECO:0000269 PubMed:2177843, ECO:0000269 PubMed:2849209, ECO:0000269 PubMed:28698609, ECO:0000269 PubMed:7828346, ECO:0000269 PubMed:8106618, ECO:0000269 PubMed:8381803, ECO:0000269 PubMed:8392085, ECO:0000269 PubMed:8675579, ECO:0000269 PubMed:8961271, ECO:0000269 PubMed:9005998}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for VDR Gene

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

Additional Disease Information for VDR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with VDR: view

Publications for VDR Gene

  1. Vitamin D receptor (VDR) gene polymorphisms and haplotypes, interactions with plasma 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and prostate cancer risk. (PMID: 17440943) Mikhak B … Giovannucci E (The Prostate 2007) 3 23 26 41 54
  2. Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population. (PMID: 19186074) Dilmec F … van Kuilenburg AB (Journal of diabetes and its complications 2010) 3 23 41 54
  3. Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes. (PMID: 19902255) Ovsyannikova IG … Poland GA (Human genetics 2010) 3 23 41 54
  4. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. (PMID: 20015871) te Winkel ML … van den Heuvel-Eibrink MM (Haematologica 2010) 3 23 41 54
  5. Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age births in white women. (PMID: 20200114) Bodnar LM … Simhan HN (The Journal of nutrition 2010) 3 23 41 54

Products for VDR Gene