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Aliases for VDR Gene

Aliases for VDR Gene

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

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

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
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G047887 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.4 +54.3 54250 2.1 CTCF NFIB ZBTB40 FOSL1 GATA3 CTBP1 GATA2 POLR2A FOS FOSL2 VDR TMEM106C HDAC7 RAPGEF3 SLC48A1 ENSG00000257433 OR8S1 ZNF641 ASB8 ENSG00000205537
GH12G047902 1.7 FANTOM5 ENCODE dbSUPER 16.3 +38.8 38750 3.4 SIN3A ZNF2 YY1 ZNF143 FOS ZNF263 SP3 JUNB REST SMARCB1 VDR ZNF641 ASB8 GC12P047906 ENSG00000205537
GH12G047899 1.4 FANTOM5 ENCODE dbSUPER 19.3 +42.2 42203 3.1 ARID4B ZNF48 RAD21 HSF1 SCRT2 ZNF143 FOS THAP11 CEBPB TGIF2 VDR TMEM106C ZNF641 OR10AD1 GC12P047906 ENSG00000205537
GH12G047804 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +125.3 125300 25.6 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 ZNF143 ZNF263 SP3 TBX21 MEF2D KANSL2 CCNT1 RAPGEF3 LOC390314 ASB8 VDR SENP1 SLC48A1 ENSG00000205537 ENSG00000268069
GH12G047704 1.4 FANTOM5 ENCODE 13.8 +236.7 236709 2.8 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 FOS ENSG00000257433 VDR SLC48A1 RAPGEF3 HDAC7 ASB8 ENSG00000205537 CCDC184 ENDOU
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VDR on UCSC Golden Path with GeneCards custom track

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:
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. 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

    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

  • Cell Signaling Technology (CST) Antibodies for VDR (VDR)

No data available for DME Specific Peptides for VDR Gene

Domains & Families for VDR Gene

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.
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

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.

Gene Ontology (GO) - Molecular Function for VDR Gene

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
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:

Animal Model Products

CRISPR Products

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

Inhibitory RNA Products

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.

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
cytoskeleton 3
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for VDR Gene

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
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

SIGNOR curated interactions for VDR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VDR Gene

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 --
genes like me logo Genes that share ontologies with VDR: view

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

(51) 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

(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
genes like me logo Genes that share compounds with VDR: view

Drug Products

Transcripts for VDR Gene

Unigene Clusters for VDR Gene

Vitamin D (1,25- dihydroxyvitamin D3) receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
VDR

Expression for VDR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for VDR Gene



NURSA nuclear receptor signaling pathways regulating expression of VDR Gene:

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(3.1)
  • 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
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 34
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia VDR 34 35
  • 91.1 (n)
cow
(Bos Taurus)
Mammalia VDR 34 35
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Vdr 34
  • 87.16 (n)
mouse
(Mus musculus)
Mammalia Vdr 34 16 35
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia VDR 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VDR 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves VDR 34 35
  • 76.83 (n)
lizard
(Anolis carolinensis)
Reptilia VDR 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vdr 34
  • 67.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia vdr-A 34
zebrafish
(Danio rerio)
Actinopterygii vdrb 35
  • 71 (a)
OneToMany
vdra 34
  • 70.32 (n)
VDR (1 of 2) 35
  • 67 (a)
OneToMany
vdr 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.668 34
fruit fly
(Drosophila melanogaster)
Insecta EcR 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for VDR Gene

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 from dbSNP and Humsavar for VDR Gene

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

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)

Relevant External Links for VDR Gene

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

Disorders for VDR Gene

MalaCards: The human disease database

(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
  • hypocalcemic vitamin d-resistant rickets
vitamin d-dependent rickets type ii
  • rickets-alopecia syndrome
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
rickets
  • active rickets
tuberculosis
  • kochs disease
- 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: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

Genetic Association Database (GAD)
VDR
Human Genome Epidemiology (HuGE) Navigator
VDR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VDR
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. (Prostate 2007) 3 22 25 46 64
  2. Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors. (PMID: 20432164) Slattery M.L. … Samowitz W. (Nutr Cancer 2010) 3 22 46 64
  3. 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
  4. 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
  5. 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 I.G. … Poland G.A. (Hum. Genet. 2010) 3 22 46 64

Products for VDR Gene

Sources for VDR Gene

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