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VDR

GENERAL INFORMATION

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

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Cell line enhanced (HDLM-2, U-937)
HPA (normal tissue):Tissue enhanced (parathyroid gland)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001
Show all

RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

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 83.38)

Entrez gene

 7421

UniProt

 P11473 (UniProt - Evidence at protein level)

neXtProt

 NX_P11473

Antibodypedia

 VDR antibodies

PROTEIN BROWSER
VDR-001
VDR-002
VDR-004
VDR-006
VDR-007
VDR-008
VDR-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
VDR-001
ENSP00000378734
ENST00000395324
P11473 [Direct mapping]
Vitamin D3 receptor
F1D8P8 [Target identity:100%; Query identity:100%]
Vitamin D (1,25-dihydroxyvitamin D3) receptor, isoform CRA_c; Vitamin D nuclear receptor variant 1
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008434 [calcitriol receptor activity]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0010980 [positive regulation of vitamin D 24-hydroxylase activity]
GO:0038183 [bile acid signaling pathway]
GO:0038186 [lithocholic acid receptor activity]
GO:0043235 [receptor complex]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046697 [decidualization]
GO:0046965 [retinoid X receptor binding]
GO:0060558 [regulation of calcidiol 1-monooxygenase activity]
GO:0070561 [vitamin D receptor signaling pathway]
GO:0070644 [vitamin D response element binding]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1902098 [calcitriol binding]
GO:1902121 [lithocholic acid binding]
Show all
 427 aa
48.3 kDa 		No 0
VDR-002
ENSP00000447173
ENST00000550325
P11473 [Direct mapping]
Vitamin D3 receptor
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0001501 [skeletal system development]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007165 [signal transduction]
GO:0007275 [multicellular organismal development]
GO:0007595 [lactation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008434 [calcitriol receptor activity]
GO:0009887 [organ morphogenesis]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0010980 [positive regulation of vitamin D 24-hydroxylase activity]
GO:0038183 [bile acid signaling pathway]
GO:0038186 [lithocholic acid receptor activity]
GO:0043235 [receptor complex]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046697 [decidualization]
GO:0046965 [retinoid X receptor binding]
GO:0050892 [intestinal absorption]
GO:0060058 [positive regulation of apoptotic process involved in mammary gland involution]
GO:0060558 [regulation of calcidiol 1-monooxygenase activity]
GO:0060745 [mammary gland branching involved in pregnancy]
GO:0070561 [vitamin D receptor signaling pathway]
GO:0070644 [vitamin D response element binding]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1902098 [calcitriol binding]
GO:1902121 [lithocholic acid binding]
Show all
 477 aa
53.9 kDa 		No 0
VDR-004
ENSP00000449573
ENST00000549336
P11473 [Direct mapping]
Vitamin D3 receptor
F1D8P8 [Target identity:100%; Query identity:100%]
Vitamin D (1,25-dihydroxyvitamin D3) receptor, isoform CRA_c; Vitamin D nuclear receptor variant 1
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008434 [calcitriol receptor activity]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0010980 [positive regulation of vitamin D 24-hydroxylase activity]
GO:0038183 [bile acid signaling pathway]
GO:0038186 [lithocholic acid receptor activity]
GO:0043235 [receptor complex]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046697 [decidualization]
GO:0046965 [retinoid X receptor binding]
GO:0060558 [regulation of calcidiol 1-monooxygenase activity]
GO:0070561 [vitamin D receptor signaling pathway]
GO:0070644 [vitamin D response element binding]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1902098 [calcitriol binding]
GO:1902121 [lithocholic acid binding]
Show all
 427 aa
48.3 kDa 		No 0
VDR-006
ENSP00000450105
ENST00000548664
F8VPF8 [Direct mapping]
Vitamin D3 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0008434 [calcitriol receptor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0070561 [vitamin D receptor signaling pathway]
Show all
 101 aa
11.5 kDa 		No 0
VDR-007
ENSP00000448659
ENST00000546653
F8VRJ4 [Direct mapping]
Vitamin D3 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0008434 [calcitriol receptor activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0070561 [vitamin D receptor signaling pathway]
Show all
 250 aa
28.1 kDa 		No 0
VDR-008
ENSP00000449561
ENST00000550314
F8VVY8 [Direct mapping]
Vitamin D3 receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0008434 [calcitriol receptor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0070561 [vitamin D receptor signaling pathway]
Show all
 106 aa
12.2 kDa 		No 0
VDR-201
ENSP00000229022
ENST00000229022
P11473 [Direct mapping]
Vitamin D3 receptor
F1D8P8 [Target identity:100%; Query identity:100%]
Vitamin D (1,25-dihydroxyvitamin D3) receptor, isoform CRA_c; Vitamin D nuclear receptor variant 1
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000902 [cell morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007165 [signal transduction]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008434 [calcitriol receptor activity]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0010980 [positive regulation of vitamin D 24-hydroxylase activity]
GO:0038183 [bile acid signaling pathway]
GO:0038186 [lithocholic acid receptor activity]
GO:0043235 [receptor complex]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046697 [decidualization]
GO:0046965 [retinoid X receptor binding]
GO:0060558 [regulation of calcidiol 1-monooxygenase activity]
GO:0070561 [vitamin D receptor signaling pathway]
GO:0070644 [vitamin D response element binding]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1902098 [calcitriol binding]
GO:1902121 [lithocholic acid binding]
Show all
 427 aa
48.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.