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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
  • Nuclear Receptor Subfamily 1, Group I, Member 2 2 3
  • Steroid And Xenobiotic Receptor 3 4
  • Orphan Nuclear Receptor PAR1 3 4
  • PXR 3 4
  • SXR 3 4
  • 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 biliary tract disease and freemartinism. Among its related pathways are Gene Expression and Nuclear receptors in lipid metabolism and toxicity. 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 NR4A2.

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 fRNAdb sequence ontologies and piRNA Summary for NR1I2 Gene

Genomics for NR1I2 Gene

Regulatory Elements for NR1I2 Gene

Promoters for NR1I2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for NR1I2 Gene at MOPED

Post-translational modifications for NR1I2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR1I2 Gene

Antibody Products

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 :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
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:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding IEA,IDA 12578355
GO:0004887 thyroid hormone receptor activity IEA --
GO:0005515 protein binding IEA,IPI 12578355
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

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
Jensen Localization Image for NR1I2 Gene COMPARTMENTS Subcellular localization image for NR1I2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
peroxisome 2
cytoskeleton 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for NR1I2 Gene

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:0006805 xenobiotic metabolic process IDA 12578355
GO:0007165 signal transduction TAS 9784494
GO:0030522 intracellular receptor signaling pathway IEA,IDA --
GO:0042908 xenobiotic transport IDA 12578355
GO:0045892 negative regulation of transcription, DNA-templated IDA 11891224
genes like me logo Genes that share ontologies with NR1I2: view

Drugs & Compounds for NR1I2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rifampicin Approved Pharma Agonist, binder, Target, agonist Pregnane X receptor agonist; antibiotic 303
Rifaximin Approved, Investigational Pharma Target, agonist Pregnane X receptor agonist; antibiotic 94
Docetaxel Approved May 1996, Investigational Pharma Target, binder Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1844
Paclitaxel Approved Pharma inhibitor, Biomarker, binder, Target, inducer Tubulin and Bcl2 inhibitor, Taxanes 2621
Clotrimazole Approved Pharma Inhibition, Pore Blocker, inhibitor Cytochrome P450 inhibitor; antifungal 26

(54) Additional Compounds for NR1I2 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
5beta-cholestane-3alpha,7alpha,12alpha-triol
Agonist
S20 (racemic mixture)
Agonist
Meclizine dihydrochloride
1104-22-9
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

Flow Cytometry Products

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 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



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.
genes like me logo Genes that share expression patterns with NR1I2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
NR1I2 35
  • 99.15 (n)
  • 98.52 (a)
cow
(Bos Taurus)
Mammalia NR1I2 36
  • 82 (a)
OneToOne
NR1I2 35
  • 84.73 (n)
  • 82.1 (a)
dog
(Canis familiaris)
Mammalia PXR 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1i2 16
Nr1i2 35
  • 82.36 (n)
  • 77.39 (a)
Nr1i2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR1I2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 20 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nr1i2 35
  • 82.6 (n)
  • 76.92 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 21 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68499 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1i2 35
  • 63.25 (n)
  • 56.6 (a)
zebrafish
(Danio rerio)
Actinopterygii nr1i2 36
  • 46 (a)
OneToOne
nr1i2 35
nr1i2 35
  • 60.73 (n)
  • 54.2 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004224 35
  • 46.82 (n)
  • 34.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta EcR 36
  • 12 (a)
OneToMany
Hr96 35
  • 48.69 (n)
  • 36.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for NR1I2:
  • 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
rs12721613 - 119,807,329(+) GAAAG(C/T)CCAGT reference, missense
VAR_012229 -
VAR_012230 -
VAR_018340 -
VAR_018341 -

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

Variant ID Type Subtype PubMed ID
nsv482988 CNV Complex 15286789

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

HapMap Linkage Disequilibrium report
NR1I2
Human Gene Mutation Database (HGMD)
NR1I2

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

Disorders for NR1I2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
biliary tract disease
  • biliary tract diseases
freemartinism
cerebrotendinous xanthomatosis
  • cholestanol storage disease
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
melkersson-rosenthal syndrome
  • cheilitis granulomatosa of mescher-melkersson-rosenthal
- 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. Rifampicin-activated human pregnane X receptor and CYP3A4 induction enhance acetaminophen-induced toxicity. (PMID: 19460945) Cheng J. … Gonzalez F.J. (Drug Metab. Dispos. 2009) 3 23 25 26
  2. Crystal structure of the pregnane X receptor-estradiol complex provides insights into endobiotic recognition. (PMID: 17327420) Xue Y. … Redinbo M.R. (Mol. Endocrinol. 2007) 3 23 25 26
  3. The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions. (PMID: 9727070) Lehmann J.M. … Kliewer S.A. (J. Clin. Invest. 1998) 2 3 4 67
  4. Nuclear receptor mediated induction of cytochrome P450 3A4 by anticancer drugs: a key role for the pregnane X receptor. (PMID: 18839173) Harmsen S. … Schellens J.H. (Cancer Chemother. Pharmacol. 2009) 23 25 26
  5. Herb-drug interactions in oncology: focus on mechanisms of induction. (PMID: 16880233) Meijerman I. … Schellens J.H. (Oncologist 2006) 23 25 26

Products for NR1I2 Gene

Sources for NR1I2 Gene

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