VDR

GENERAL INFORMATION

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Gene name

VDR

Gene description

Vitamin D (1,25- dihydroxyvitamin D3) receptor

Protein class

Disease related genes
FDA approved drug targets
Nuclear receptors
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (duodenum, small intestine)
GTEx:Tissue enhanced (small intestine)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (duodenum, small intestine)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (small intestine)

Organ

Expression



GENE INFORMATION

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Gene name

VDR (HGNC Symbol)

Synonyms

NR1I1, PPP1R163

Description

Vitamin D (1,25- dihydroxyvitamin D3) receptor (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12

Cytoband

q13.11

Chromosome location (bp)

47841537 - 47943048

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111424 (version 78.38)

Entrez gene

7421

UniProt

P11473 (UniProt - Evidence at protein level)

neXtProt

NX_P11473

Antibodypedia

VDR antibodies


PROTEIN BROWSER

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ENST00000229022
 
ENST00000395324
 
ENST00000546653
 
ENST00000548664
 
ENST00000549336
 
ENST00000550314
 
ENST00000550325
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

VDR-001 ENSP00000378734
ENST00000395324
P11473
Show all »
Show » Show » 427 48.3 No 0
VDR-002 ENSP00000447173
ENST00000550325
P11473
Show all »
Show » Show » 477 53.9 No 0
VDR-004 ENSP00000449573
ENST00000549336
P11473
Show all »
Show » Show » 427 48.3 No 0
VDR-006 ENSP00000450105
ENST00000548664
F8VPF8
Show all »
Show » Show » 101 11.5 No 0
VDR-007 ENSP00000448659
ENST00000546653
F8VRJ4
Show all »
Show » Show » 250 28.1 No 0
VDR-008 ENSP00000449561
ENST00000550314
F8VVY8
Show all »
Show » Show » 106 12.2 No 0
VDR-201 ENSP00000229022
ENST00000229022
P11473
Show all »
Show » Show » 427 48.3 No 0