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Aliases for NR1I2 Gene

Aliases for NR1I2 Gene

  • Nuclear Receptor Subfamily 1 Group I Member 2 2 3 5
  • Orphan Nuclear Receptor PXR 2 3 4
  • Pregnane X Receptor 2 3 4
  • Steroid And Xenobiotic Receptor 3 4
  • Orphan Nuclear Receptor PAR1 3 4
  • PXR 3 4
  • SXR 3 4
  • Nuclear Receptor Subfamily 1, Group I, Member 2 2
  • Pregnane X Nuclear Receptor Variant 2 3
  • PAR1 3
  • PAR2 3
  • ONR1 3
  • PARq 3
  • PRR 3
  • PAR 3
  • BXR 3
  • SAR 3

External Ids for NR1I2 Gene

Previous GeneCards Identifiers for NR1I2 Gene

  • GC03P116138
  • GC03P119128
  • GC03P120780
  • GC03P120820
  • GC03P120982
  • GC03P119499
  • GC03P116874

Summaries for NR1I2 Gene

Entrez Gene Summary for NR1I2 Gene

  • This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for NR1I2 Gene

NR1I2 (Nuclear Receptor Subfamily 1 Group I Member 2) is a Protein Coding gene. Diseases associated with NR1I2 include Cerebrotendinous Xanthomatosis and Biliary Tract Disease. Among its related pathways are Phenytoin Pathway, Pharmacokinetics and Etoposide Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is VDR.

UniProtKB/Swiss-Prot for NR1I2 Gene

  • Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.

Tocris Summary for NR1I2 Gene

  • Pregnane X receptors (PXRs) are nuclear receptors that regulate the expression of CYP3A genes, generating key enzymes involved in xenobiotic metabolism. PXRs also help regulate the induction of P-gp. PXRs are highly expressed in the liver, small intestine and colon.

Gene Wiki entry for NR1I2 Gene

PharmGKB "VIP" Summary for NR1I2 Gene

No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for NR1I2 Gene

Genomics for NR1I2 Gene

Regulatory Elements for NR1I2 Gene

Enhancers for NR1I2 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
GH03G119794 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.7 +15.6 15565 3.4 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 YY1 ZNF143 FOS KLF13 MAATS1 ENSG00000239994 NR1I2 ARHGAP31 PHBP8 GC03P119973
GH03G119652 0.7 FANTOM5 dbSUPER 7.3 -129.3 -129262 0.3 ZMYM3 ZNF623 RPL10P7 ADPRH CD80 MAATS1 NR1I2 POPDC2
GH03G119715 1.1 FANTOM5 ENCODE 2.7 -63.5 -63511 2.5 FOXA2 RAD21 RARA YY1 MIXL1 THAP11 NR2F2 KLF16 CEBPA ZBTB33 MAATS1 ENSG00000239994 RPL10P7 PLA1A LRRC58 NR1I2
GH03G119649 0.9 FANTOM5 dbSUPER 1.7 -130.3 -130312 0.4 ZBTB21 CEBPB ZNF366 ZNF692 ATF3 ZNF629 ZNF24 EGR2 ADPRH CD80 MAATS1 NR1I2 RPL10P7 POPDC2
GH03G119779 1.3 ENCODE dbSUPER 0.7 +1.4 1427 4.0 HDGF FOXA2 ATF1 ZFP64 SIN3A ZNF48 YY1 ZNF766 ELK1 SP5 MAATS1 ENSG00000239994 NR1I2 PHBP8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NR1I2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR1I2 Gene

Chromosome:
3
Start:
119,780,484 bp from pter
End:
119,818,485 bp from pter
Size:
38,002 bases
Orientation:
Plus strand

Genomic View for NR1I2 Gene

Genes around NR1I2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR1I2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR1I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR1I2 Gene

Proteins for NR1I2 Gene

  • Protein details for NR1I2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75469-NR1I2_HUMAN
    Recommended name:
    Nuclear receptor subfamily 1 group I member 2
    Protein Accession:
    O75469
    Secondary Accessions:
    • Q006P5
    • Q008C8
    • Q96AC7
    • Q9UJ22
    • Q9UJ23
    • Q9UJ24
    • Q9UJ25
    • Q9UJ26
    • Q9UJ27
    • Q9UNW4

    Protein attributes for NR1I2 Gene

    Size:
    434 amino acids
    Molecular mass:
    49762 Da
    Quaternary structure:
    • Heterodimer with RXR. Interacts with NCOA1.

    Three dimensional structures from OCA and Proteopedia for NR1I2 Gene

    Alternative splice isoforms for NR1I2 Gene

neXtProt entry for NR1I2 Gene

Post-translational modifications for NR1I2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR1I2 Gene

No data available for DME Specific Peptides for NR1I2 Gene

Domains & Families for NR1I2 Gene

Gene Families for NR1I2 Gene

Suggested Antigen Peptide Sequences for NR1I2 Gene

Graphical View of Domain Structure for InterPro Entry

O75469

UniProtKB/Swiss-Prot:

NR1I2_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with NR1I2: view

Function for NR1I2 Gene

Molecular function for NR1I2 Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.

Gene Ontology (GO) - Molecular Function for NR1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 11114890
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 11114890
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003707 steroid hormone receptor activity IEA --
genes like me logo Genes that share ontologies with NR1I2: view
genes like me logo Genes that share phenotypes with NR1I2: view

Animal Models for NR1I2 Gene

MGI Knock Outs for NR1I2:

Animal Model Products

CRISPR Products

miRNA for NR1I2 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NR1I2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NR1I2 Gene

Localization for NR1I2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR1I2 Gene

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 NR1I2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with NR1I2: view

Pathways & Interactions for NR1I2 Gene

genes like me logo Genes that share pathways with NR1I2: view

SIGNOR curated interactions for NR1I2 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NR1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006805 xenobiotic metabolic process IDA 12578355
GO:0007165 signal transduction TAS 9784494
genes like me logo Genes that share ontologies with NR1I2: view

Drugs & Compounds for NR1I2 Gene

(104) Drugs for NR1I2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rifampin Approved Pharma Agonist, binder, Target, agonist 348
Docetaxel Approved May 1996, Investigational Pharma Target, binder Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Rifaximin Approved, Investigational Pharma Target, agonist Pregnane X receptor agonist; antibiotic 106
Paclitaxel Approved, Vet_approved Pharma inhibitor, Biomarker, binder, Target, inducer Tubulin and Bcl2 inhibitor, Taxanes 2864
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker, inhibitor Cytochrome P450 inhibitor; antifungal 38

(51) Additional Compounds for NR1I2 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
5beta-cholestane-3alpha,7alpha,12alpha-triol
Agonist
S20 (racemic mixture)
Agonist

(1) Tocris Compounds for NR1I2 Gene

Compound Action Cas Number
Rifaximin Pregnane X receptor agonist; antibiotic 80621-81-4

(8) ApexBio Compounds for NR1I2 Gene

Compound Action Cas Number
Fexaramine 574013-66-4
GW3965 HLXRα/hLXRβ agonist,potent and selective 405911-09-3
Lithocholic Acid Activator of vitamin D receptor,PXR and FXR 434-13-9
LXR-623 Liver X-receptor agonist 875787-07-8
Rifaximin (Xifaxan) RNA synthesis inhibitor, PXR activator 80621-81-4
SR 12813 126411-39-0
SR-9243 inverse agonist of LXR 1613028-81-1
Z-Guggulsterone 39025-23-5
genes like me logo Genes that share compounds with NR1I2: view

Drug Products

Transcripts for NR1I2 Gene

Unigene Clusters for NR1I2 Gene

Nuclear receptor subfamily 1, group I, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NR1I2

Alternative Splicing Database (ASD) splice patterns (SP) for NR1I2 Gene

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

Relevant External Links for NR1I2 Gene

GeneLoc Exon Structure for
NR1I2
ECgene alternative splicing isoforms for
NR1I2

Expression for NR1I2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NR1I2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR1I2 Gene

This gene is overexpressed in Liver (x29.6), Small Intestine - Terminal Ileum (x9.9), and Colon - Transverse (x9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NR1I2 Gene



NURSA nuclear receptor signaling pathways regulating expression of NR1I2 Gene:

NR1I2

SOURCE GeneReport for Unigene cluster for NR1I2 Gene:

Hs.7303

mRNA Expression by UniProt/SwissProt for NR1I2 Gene:

O75469-NR1I2_HUMAN
Tissue specificity: Expressed in liver, colon and small intestine.

Evidence on tissue expression from TISSUES for NR1I2 Gene

  • Liver(4.8)
  • Intestine(2.8)
  • Blood(2)
genes like me logo Genes that share expression patterns with NR1I2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR1I2 Gene

Orthologs for NR1I2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1I2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR1I2 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia NR1I2 34 35
  • 84.73 (n)
rat
(Rattus norvegicus)
Mammalia Nr1i2 34
  • 82.6 (n)
mouse
(Mus musculus)
Mammalia Nr1i2 34 16 35
  • 82.36 (n)
dog
(Canis familiaris)
Mammalia PXR 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR1I2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 20 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 21 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1i2 34
  • 63.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68499 34
zebrafish
(Danio rerio)
Actinopterygii nr1i2 34 34 35
  • 60.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hr96 34
  • 48.69 (n)
EcR 35
  • 12 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004224 34
  • 46.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToMany
Species where no ortholog for NR1I2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 NR1I2 Gene

ENSEMBL:
Gene Tree for NR1I2 (if available)
TreeFam:
Gene Tree for NR1I2 (if available)

Paralogs for NR1I2 Gene

Paralogs for NR1I2 Gene

genes like me logo Genes that share paralogs with NR1I2: view

Variants for NR1I2 Gene

Sequence variations from dbSNP and Humsavar for NR1I2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000029807 -- 119,816,108(+) GAGAC(A/G)AACTT intron-variant
rs1000165620 -- 119,804,530(+) GCCTC(C/T)GCCTC intron-variant
rs1000320491 -- 119,782,082(+) TAGGA(C/T)GGGAA upstream-variant-2KB, utr-variant-5-prime
rs1000344634 -- 119,798,726(+) ACAGG(A/C)AACCA intron-variant
rs1000378364 -- 119,805,233(+) TCTAG(A/C)AGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NR1I2 Gene

Variant ID Type Subtype PubMed ID
nsv965201 CNV duplication 23825009

Variation tolerance for NR1I2 Gene

Residual Variation Intolerance Score: 8.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR1I2 Gene

Human Gene Mutation Database (HGMD)
NR1I2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR1I2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1I2 Gene

Disorders for NR1I2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for NR1I2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebrotendinous xanthomatosis
  • cholestanol storage disease
biliary tract disease
  • biliary tract diseases
xanthomatosis
  • xanthelasmatosis
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards
Search NR1I2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NR1I2

Genetic Association Database (GAD)
NR1I2
Human Genome Epidemiology (HuGE) Navigator
NR1I2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR1I2
genes like me logo Genes that share disorders with NR1I2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR1I2 Gene

Publications for NR1I2 Gene

  1. Long-term changes in cyclosporine pharmacokinetics after renal transplantation in children: evidence for saturable presystemic metabolism and effect of NR1I2 polymorphism. (PMID: 20107201) Fanta S. … Backman J.T. (J Clin Pharmacol 2010) 3 22 46 64
  2. A role for the pregnane X receptor in flucloxacillin-induced liver injury. (PMID: 20222094) Andrews E. … Daly A.K. (Hepatology 2010) 3 22 46 64
  3. Explaining variability in ciclosporin exposure in adult kidney transplant recipients. (PMID: 20354687) Press R.R. … Guchelaar H.J. (Eur. J. Clin. Pharmacol. 2010) 3 22 46 64
  4. Human CYP3A4 and murine Cyp3A11 are regulated by equol and genistein via the pregnane X receptor in a species-specific manner. (PMID: 19297428) Li Y. … Ricketts M.L. (J. Nutr. 2009) 3 4 22 64
  5. Impact of the haplotypes of the human pregnane X receptor gene on the basal and St John's wort-induced activity of cytochrome P450 3A4 enzyme. (PMID: 19173680) Wang X.D. … Zhou S.F. (Br J Clin Pharmacol 2009) 3 22 46 64

Products for NR1I2 Gene

  • Addgene plasmids for NR1I2

Sources for NR1I2 Gene

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