Aliases for VDR Gene
Aliases for VDR Gene
External Ids for VDR Gene
- HGNC: 12679
- Entrez Gene: 7421
- Ensembl: ENSG00000111424
- OMIM: 601769
- UniProtKB: P11473
Previous GeneCards Identifiers for VDR Gene
- GC12M048247
- GC12M048134
- GC12M047952
- GC12M046521
- GC12M045266
Summaries for VDR Gene
-
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 different proteins. [provided by RefSeq, Feb 2011]
GeneCards Summary for VDR Gene
VDR (Vitamin D Receptor) is a Protein Coding gene. Diseases associated with VDR include Rickets, Vitamin D-Resistant, Type Iia and Vitamin D-Dependent Rickets Type Ii. Among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Tuberculosis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and steroid hormone receptor activity. An important paralog of this gene is NR1I2.
UniProtKB/Swiss-Prot for VDR Gene
-
Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis.
-
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.
No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for VDR Gene
Genomics for VDR Gene
Regulatory Elements for VDR Gene
Enhancers for VDR Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around VDR on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the VDR gene promoter:
Regulatory Element Products
Genomic Location for VDR Gene
- Chromosome:
- 12
- Start:
- 47,841,537 bp from pter
- End:
- 47,943,048 bp from pter
- 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:
-
- 12q13.11 by Ensembl
- 12q13.11 by Entrez Gene
- 12q13.11 by HGNC
VDR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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. 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. Interacts with SNW1. Interacts with IRX4, the interaction doesnt affect its transactivation activity.
- SequenceCaution:
-
- Sequence=AAH60832.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP88938.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for VDR Gene
Protein Expression for VDR Gene
Post-translational modifications for VDR Gene
Other Protein References for VDR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for VDR
- R&D Systems Antibodies for VDR (VDR/NR1I1)
- Cell Signaling Technology (CST) Antibodies for VDR (VDR)
- Novus Biologicals Antibodies for VDR
-
Abcam antibodies for VDR
- Invitrogen Antibodies for VDR
- antibodies-online Antibodies for VDR: See all 116
- GeneTex VDR antibody for VDR
-
Santa Cruz Biotechnology (SCBT) Antibodies for VDR
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for VDR
- Origene Custom Protein Services for VDR
- Sino Biological Cell Lysates for VDR
- Sino Biological Recombinant Proteins for VDR
- ProSpec Recombinant Proteins for VDR
- antibodies-online Proteins for VDR: See all 15
- Search antibodies-online for peptides
- Search GeneTex for Proteins for VDR
-
Abcam proteins for VDR
No data available for DME Specific Peptides for VDR Gene
Domains & Families for VDR Gene
Gene Families for VDR Gene
Protein Domains for VDR Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for VDR Gene
Graphical View of Domain Structure for InterPro Entry
P11473UniProtKB/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.
- Family:
-
- Belongs to the nuclear hormone receptor family. NR1 subfamily.
Function for VDR Gene
Molecular function for VDR Gene
- GENATLAS Biochemistry:
- vitamin D (1,25-dihydroxyvitamin D3) receptor,48kDa,nuclear steroid/thyroid hormone receptor superfamily,heterodimerizing with retinoic acid X receptors RXR*
- UniProtKB/Swiss-Prot Function:
- Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IDA,TAS | 11891224 |
| GO:0003700 | contributes_to transcription factor activity, sequence-specific DNA binding | IDA | 17426122 |
| GO:0003707 | steroid hormone receptor activity | IEA | -- |
| GO:0004879 | RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 9632709 |
Phenotypes for VDR Gene
- MGI mutant phenotypes for VDR:
-
inferred from 10 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for VDR:
Animal Models for VDR Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for VDR
-
-
ViGene Biosciences lentiviral particle packaged cDNA for VDR gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VDR gene
- Search ViGene Biosciences for VDR
CRISPR Products
-
OriGene CRISPR knockouts for VDR
-
Santa Cruz Biotechnology (SCBT) CRISPR for VDR
- GenScript: Design CRISPR guide RNA sequences for VDR
miRNA for VDR Gene
- miRTarBase miRNAs that target VDR
-
- hsa-mir-125b-5p (MIRT001197)
- hsa-let-7a-5p (MIRT002080)
- hsa-mir-27b-3p (MIRT006509)
- hsa-mir-6807-5p (MIRT515425)
- hsa-mir-7151-3p (MIRT515426)
- hsa-mir-5095 (MIRT515427)
- hsa-mir-2861 (MIRT515428)
- hsa-mir-6735-3p (MIRT515429)
- hsa-mir-3195 (MIRT515430)
- hsa-mir-214-5p (MIRT515431)
- hsa-mir-6749-5p (MIRT515432)
- hsa-mir-6748-3p (MIRT515433)
- hsa-mir-4438 (MIRT515435)
- hsa-mir-4446-5p (MIRT644421)
- hsa-mir-3679-3p (MIRT644422)
- hsa-mir-6826-3p (MIRT644423)
- hsa-mir-6795-3p (MIRT644424)
- hsa-mir-6887-3p (MIRT644425)
- hsa-mir-153-5p (MIRT644426)
- hsa-mir-1250-3p (MIRT644427)
- hsa-mir-548x-3p (MIRT644428)
- hsa-mir-548j-3p (MIRT644429)
- hsa-mir-548aq-3p (MIRT644430)
- hsa-mir-548am-3p (MIRT644431)
- hsa-mir-548aj-3p (MIRT644432)
- hsa-mir-548ah-3p (MIRT644433)
- hsa-mir-548ae-3p (MIRT644434)
- hsa-mir-548z (MIRT644435)
- hsa-mir-548h-3p (MIRT644436)
- hsa-mir-548d-3p (MIRT644437)
- hsa-mir-548bb-3p (MIRT644438)
- hsa-mir-548ac (MIRT644439)
- hsa-mir-4659b-3p (MIRT721616)
- hsa-mir-4659a-3p (MIRT721617)
- hsa-mir-4279 (MIRT721618)
- hsa-mir-6792-3p (MIRT721619)
- hsa-mir-4691-5p (MIRT721620)
- hsa-mir-7704 (MIRT721621)
- hsa-mir-615-5p (MIRT721622)
- hsa-mir-4731-5p (MIRT721623)
- hsa-mir-942-5p (MIRT721624)
- hsa-mir-7155-5p (MIRT721625)
- hsa-mir-4766-5p (MIRT721626)
Targeted motifs for VDR Gene
HOMER Transcription Factor Regulatory Elements motif VDR
- Consensus sequence: NGAGGTCANNGAGTTCANNN Submotif: DR3 Cell Type: GM10855 GEO ID: GSE22484
miRNA Products
- Search ViGene Biosciences for VDR
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for VDR
- Browse OriGene Inhibitory RNA Products For VDR
-
ViGene Biosciences ready-to-package AAV shRNAs for VDR gene
Clone Products
- Sino Biological Human cDNA Clone for VDR
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VDR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VDR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for VDR
-
ViGene Biosciences adenoviral particle packaged cDNA for VDR gene
-
ViGene Biosciences lentiviral particle packaged cDNA for VDR gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VDR gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| peroxisome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 15589699 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0043235 | receptor complex | IDA | 17426122 |
| GO:0090575 | RNA polymerase II transcription factor complex | IDA | 17426122 |
Pathways & Interactions for VDR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gene Expression |
.48
|
|
| 2 | Nuclear Receptor transcription pathway | ||
| 3 | Endocrine and other factor-regulated calcium reabsorption | ||
| 4 | Mineral absorption | ||
| 5 | Tuberculosis | ||
Pathways by source for VDR Gene
1 Cell Signaling Technology pathway for VDR Gene
9 BioSystems pathways for VDR Gene
3 Reactome pathways for VDR Gene
1 PharmGKB pathway for VDR Gene
3 KEGG pathways for VDR Gene
Interacting Proteins for VDR Gene
Selected Interacting proteins:
ENSP00000447173
P11473-VDR_HUMAN
for VDR Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IDA | 17426122 |
| GO:0000902 | cell morphogenesis | IMP | 17223341 |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
Drugs & Compounds for VDR Gene
(120) Drugs for VDR Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcipotriol | Approved | Pharma | Agonist, antagonist, Target | Vitamin D3 analog,regulates cell differentiation and proliferation, Vitamin D3 analog | 0 | |
| Paricalcitol | Approved, Investigational | Pharma | agonist, Target | Analog of VD2 active form, Analog of the active form of vitamin D2 | 0 | |
| Calcitriol | Approved | Nutra | antagonist, Target | TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist | 210 | |
| Alfacalcidol | Approved | Nutra | Target, agonist | Bone resorption inhibitor, Prodrug of vitamin D3 (Cat. No. 4156) | 61 | |
| Doxercalciferol | Approved | Pharma | antagonist, Target, suppressor | Vitamin D receptor activator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| EB 1089 |
|
134404-52-7 |
|
|||
| EB1089 |
|
Agonist |
|
|||
| KH1060 |
|
Agonist |
|
|||
| TEI-9647 |
|
Antagonist |
|
|||
| TV-02H |
|
Agonist |
|
(5) Tocris Compounds for VDR Gene
| Compound | Action | Cas Number |
|---|---|---|
| Alfacalcidol | Prodrug of vitamin D3 (Cat. No. 4156) | 41294-56-8 |
| Calcipotriol | Vitamin D3 analog | 112965-21-6 |
| Calcitriol | Vitamin D receptor (VDR) agonist | 32222-06-3 |
| EB 1089 | Vitamin D receptor (VDR) agonist | 134404-52-7 |
| Paricalcitol | Analog of the active form of vitamin D2 | 131918-61-1 |
(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 |
Transcripts for VDR Gene
mRNA/cDNA for VDR Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (209) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for VDR Gene
- Vitamin D (1,25- dihydroxyvitamin D3) receptor:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for VDR
-
Santa Cruz Biotechnology (SCBT) CRISPR for VDR
- GenScript: Design CRISPR guide RNA sequences for VDR
miRNA Products
- Search ViGene Biosciences for VDR
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for VDR
- Browse OriGene Inhibitory RNA Products For VDR
-
ViGene Biosciences ready-to-package AAV shRNAs for VDR gene
Clone Products
- Sino Biological Human cDNA Clone for VDR
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VDR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VDR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||
| SP4: |
Expression for VDR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Hypertrophic Chondrocytes Vertebrae
- Hypertrophic Chondrocytes Rib
- Zeugopod Periosteum
- Zeugopod Growth Plate
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
- Distal Tubule Cells Distal Tubule
- Distal Tubule
- Proximal Tubule
- Epithelial Tubule
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Hypertrophic Chondrocytes Vertebrae
- Hypertrophic Chondrocytes Rib
-
Epithelial Cells
- Proximal Tubule Cells Proximal Tubule
- Distal Tubule Cells Distal Tubule
-
Heart (Cardiovascular System)
- Cardiomyocytes Left Ventricle
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
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, PaxDb, and MOPED for VDR Gene
NURSA nuclear receptor signaling pathways regulating expression of VDR Gene:
VDRSOURCE GeneReport for Unigene cluster for VDR Gene:
Hs.524368Evidence on tissue expression from TISSUES for VDR Gene
- Blood(4.5)
- Eye(4)
- Thyroid gland(3.8)
- Intestine(3.1)
- Kidney(3.1)
- Skin(3)
- Bone(2.6)
- Lung(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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for VDR
-
OriGene qPCR primer pairs and template standards for VDR
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | VDR 34 |
|
||
| dog (Canis familiaris) |
Mammalia | VDR 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | VDR 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Vdr 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Vdr 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | VDR 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | VDR 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | VDR 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | VDR 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | vdr 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | vdr-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vdrb 35 |
|
OneToMany | |
| vdra 34 |
|
||||
| VDR (1 of 2) 35 |
|
OneToMany | |||
| vdr 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.668 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | EcR 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for VDR Gene
Paralogs for VDR Gene
(63) SIMAP similar genes for VDR Gene using alignment to 11 proteins:
- NR1i1
- NR1I1
- RORA
- RORB
- NR1F2
- NR1F1
- RORC
- NR1F3
- NR5A2
- ESRRA
- NR5A1
- ESRRB
- PPARG
- NR2A3
- HNF4G
- NR2B3
- THRB
- NR2A1
- RXRA
- NR4A1
- DKFZp451G125
- NR2F1
- NR1H2
- ESR1
- NR1I3
- NR1D2
- NR1H3
- NR2F6
- DKFZp686P04237
- THRA
- ESR2
- HNF4alpha
- NR1I2
- NR6A1
- RARA
- NR2E1
- NR2C2
- NR2C1
- NR2A2
- NR1B1
- DKFZp761C0417
- BCOR-RARA
- NR3C2
- RXRB
- NR1A2
- NR3C1
- RARB
- NR3B3
- NR1B2
- ESRRG
- ERRgamma
- NR1C3
- DKFZp779O0162
- NR1A1
- NR4A2
- NR1H4
- PPARD
- NR1i2
- PPARA
- AR
- NR3C4
- DKFZp686D1580
- RARG
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].
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121909790 | Pathogenic, Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] | 47,879,016(-) | CACTG(A/C/G)CTTTC | reference, missense | |
| rs121909791 | Pathogenic, Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] | 47,865,106(-) | CAACC(A/G)ACGCC | reference, missense | |
| rs121909793 | Pathogenic, Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] | 47,865,085(-) | CTGCC(A/G)GCTCA | reference, missense | |
| rs121909794 | Pathogenic, Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] | 47,865,175(-) | CAGGC(A/G)AAGCA | reference, missense | |
| rs121909796 | Pathogenic, Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] | 47,846,743(-) | GTTGC(G/T)CTCCA | reference, missense |
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)
Relevant External Links for VDR Gene
Disorders for VDR Gene
(57) MalaCards diseases for VDR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rickets, vitamin d-resistant, type iia |
|
|
| vitamin d-dependent rickets type ii |
|
|
| osteoporosis |
|
|
| rickets |
|
|
| tuberculosis |
|
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:2177843, ECO:0000269 PubMed:2849209, 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
Relevant External Links for VDR
Publications for VDR Gene
- 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. (Prostate 2007) 3 22 25 46 64
- 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 A.B. (J. Diabetes Complicat. 2010) 3 22 46 64
- Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. (PMID: 20003690) Gao L. … Jin Q. (Int. J. Tuberc. Lung Dis. 2010) 3 22 46 64
- Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age births in white women. (PMID: 20200114) Bodnar L.M. … Simhan H.N. (J. Nutr. 2010) 3 22 46 64
- Vitamin D receptor gene polymorphisms and distinct clinical phenotypes of hepatitis B carriers in Taiwan. (PMID: 19693091) Huang Y.W. … Kao J.H. (Genes Immun. 2010) 3 22 46 64
Products for VDR Gene
- R&D Systems Antibodies for VDR (VDR/NR1I1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- Browse Immunoprecipitation Assays
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- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for VDR
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for VDR
- Origene Custom Protein Services for VDR
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for VDR
- Browse OriGene Inhibitory RNA Products For VDR
- OriGene qPCR primer pairs and template standards for VDR
- OriGene qPCR primer pairs for VDR
- OriGene CRISPR knockouts for VDR
- OriGene ORF clones in human for VDR
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For VDR
- GenScript: Next-day shipping cDNA ORF clone for VDR in any vector
- GenScript Custom Purified and Recombinant Proteins Services for VDR
- GenScript Custom Assay Services for VDR
- GenScript Custom overexpressing Cell Line Services for VDR
- GenScript: Design CRISPR guide RNA sequences for VDR
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for VDR
- Cell Signaling Technology (CST) Antibodies for VDR (VDR)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for VDR
- Sino Biological Cell Lysates for VDR
- Sino Biological Recombinant Proteins for VDR
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for VDR
- Novus Biologicals proteins and lysates for VDR
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for VDR
- Abcam proteins for VDR
- Search for Assays for VDR at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- ProSpec Recombinant Proteins for VDR
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Cloud-Clone Corp Assay Kits for VDR
- Invitrogen Antibodies for VDR
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for VDR
- antibodies-online Antibodies for VDR: See all 116
- antibodies-online Kits for VDR: See all 13
- antibodies-online Proteins for VDR: See all 15
- Search antibodies-online for peptides
- GeneTex VDR antibody for VDR
- Search GeneTex for Proteins for VDR
- ViGene Biosciences adenoviral particle packaged cDNA for VDR gene
- ViGene Biosciences lentiviral particle packaged cDNA for VDR gene
- ViGene Biosciences ready-to-package AAV shRNAs for VDR gene
- Search ViGene Biosciences for VDR
- Santa Cruz Biotechnology (SCBT) Antibodies for VDR
- Search Santa Cruz Biotechnology (SCBT) for VDR siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for VDR
- Horizon Cell Lines for VDR
- Cyagen custom Knockout/knockin (KOKI) mouse models for VDR
- VectorBuilder custom plasmid, inducible vectors for VDR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VDR
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for VDR Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer