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Aliases for NR1I2 Gene

Aliases for NR1I2 Gene

  • Nuclear Receptor Subfamily 1, Group I, Member 2 2 3
  • Orphan Nuclear Receptor PXR 2 3 4
  • Pregnane X Receptor 2 3 4
  • PXR 3 4 6
  • SXR 3 4 6
  • Steroid And Xenobiotic Receptor 3 4
  • Orphan Nuclear Receptor PAR1 3 4
  • PARq 3 6
  • Nuclear Receptor Subfamily 1 Group I Member 2 3
  • Pregnane X Nuclear Receptor Variant 2 3
  • PAR1 3
  • PAR2 3
  • ONR1 3
  • BXR 3
  • PAR 3
  • PRR 3
  • SAR 3

External Ids for NR1I2 Gene

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 acute porphyria. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding and drug binding. 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, thus 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

Genomic Location for NR1I2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR1I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR1I2 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NR1I2 Gene

Domains for NR1I2 Gene

Gene Families for NR1I2 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

NR1I2_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • O75469
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.:
    • O75469
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 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 11114890
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003707 steroid hormone receptor activity IEA --
GO:0003713 transcription coactivator activity TAS 9727070
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:

miRNA for NR1I2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 2
extracellular 2
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NR1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NR1I2: view

Pathways for NR1I2 Gene

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

Gene Ontology (GO) - Biological Process for NR1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
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

Compounds for NR1I2 Gene

(3) Tocris Compounds for NR1I2 Gene

Compound Action Cas Number
Meclizine dihydrochloride Human pregnane X receptor agonist; H1 antagonist [1104-22-9]
Rifampicin Pregnane X receptor agonist; antibiotic [13292-46-1]
SR 12813 Pregnane X receptor agonist [126411-39-0]

(1) HMDB Compounds for NR1I2 Gene

Compound Synonyms Cas Number PubMed IDs
Estradiol
  • (+)-3,17b-Estradiol
50-28-2

(11) Drugbank Compounds for NR1I2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Erlotinib
  • CP358774
183321-74-6 target agonist
Estradiol
  • 17beta oestradiol
50-28-2 target
Ethinyl Estradiol
  • 17 alpha-Ethinylestradiol
57-63-6 target agonist
Hyperforin
  • Hiperforina
11079-53-1 target
N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE
target

(17) IUPHAR Ligand for NR1I2 Gene

Ligand Type Action Affinity Pubmed IDs
mifepristone Antagonist Antagonist 9.4
lovastatin Inhibitor Competitive 7.69
SR12813 Agonist Agonist 6.7
(+)-S20 Agonist Agonist 6.4
pregnanedione Agonist Agonist 6.17
schisandrin A Agonist Agonist 5.7
S20 (racemic mixture) Agonist Agonist 5.7
taxol Agonist Agonist 5.3
5beta-cholestane-3alpha,7alpha,12alpha-triol Agonist Agonist 5.3
lithocholic acid Agonist Agonist 5.05
3-keto-lithocholic acid Agonist Agonist 4.8
hyperforin Activator None
rifampicin Inhibitor Inhibition
clotrimazole Channel blocker None
nifedipine Activator None
17beta-estradiol Agonist Agonist
phenobarbital Agonist Agonist

(121) Novoseek inferred chemical compound relationships for NR1I2 Gene

Compound -log(P) Hits PubMed IDs
androstane 97.9 124
citco 95 5
sr12813 93.2 9
rifampicin 88.9 147
pregnenolone 16alpha-carbonitrile 88.2 30

(2) PharmGKB related drug/compound annotations for NR1I2 Gene

Drug/compound Annotation
memantine CA
rifampin CA
genes like me logo Genes that share compounds with NR1I2: view

Transcripts for NR1I2 Gene

Unigene Clusters for NR1I2 Gene

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

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 (29.6), Small Intestine - Terminal Ileum (9.9), and Colon - Transverse (9.6).

Integrated Proteomics: protein expression 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 expressions with NR1I2: view

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
  • 99.15 (n)
  • 98.52 (a)
NR1I2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR1I2 36
  • 84.73 (n)
  • 82.1 (a)
NR1I2 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PXR 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1i2 36
  • 82.36 (n)
  • 77.39 (a)
Nr1i2 16
Nr1i2 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR1I2 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 20 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Nr1i2 36
  • 82.6 (n)
  • 76.92 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 21 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68499 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1i2 36
  • 63.25 (n)
  • 56.6 (a)
zebrafish
(Danio rerio)
Actinopterygii nr1i2 36
nr1i2 36
  • 60.73 (n)
  • 54.2 (a)
nr1i2 37
  • 46 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004224 36
  • 46.82 (n)
  • 34.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta EcR 37
  • 12 (a)
OneToMany
Hr96 36
  • 48.69 (n)
  • 36.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

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 MAF
rs940087 -- 119,778,964(-) ATATG(A/G)TATCT upstream-variant-2KB
rs954356 -- 119,779,387(+) ACTGG(C/T)TGATA upstream-variant-2KB
rs954357 -- 119,779,232(+) GGTAA(C/T)TTCTA upstream-variant-2KB
rs1054190 -- 119,817,871(+) AGCAC(C/T)GATAA utr-variant-3-prime
rs1063955 - 119,807,284(+) ACCAT(A/G)CTGAC missense, reference

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

Variant ID Type Subtype PubMed ID
nsv482988 CNV Complex 15286789

Relevant External Links for NR1I2 Gene

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

Disorders for NR1I2 Gene

(1) University of Copenhagen DISEASES for NR1I2 Gene

(29) Novoseek inferred disease relationships for NR1I2 Gene

Disease -log(P) Hits PubMed IDs
cholestasis 58.5 9
xanthomatosis cerebrotendinous 49.7 2
cholestasis intrahepatic 40.3 6
colon adenocarcinoma 35.3 2
inflammatory bowel diseases 33.6 8

Relevant External Links for NR1I2

Genetic Association Database (GAD)
NR1I2
Human Genome Epidemiology (HuGE) Navigator
NR1I2
genes like me logo Genes that share disorders with NR1I2: view

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

Publications for NR1I2 Gene

  1. The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. (PMID: 11668216) Zhang J. … Boguski M.S. (Pharmacogenetics 2001) 3 4 23
  2. SXR, a novel steroid and xenobiotic-sensing nuclear receptor. (PMID: 9784494) Blumberg B. … Evans R.M. (Genes Dev. 1998) 3 4 23
  3. 2.1 A crystal structure of human PXR in complex with the St. John's wort compound hyperforin. (PMID: 12578355) Watkins R.E. … Redinbo M.R. (Biochemistry 2003) 3 4 23
  4. Coactivator binding promotes the specific interaction between ligand and the pregnane X receptor. (PMID: 12909012) Watkins R.E. … Redinbo M.R. (J. Mol. Biol. 2003) 3 4 23
  5. Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. (PMID: 15618712) Koyano S. … Sawada J. (Drug Metab. Pharmacokinet. 2002) 3 4 23

Products for NR1I2 Gene

Sources for NR1I2 Gene

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