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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NR1I2 Gene

protein-coding GIFtS: 67
GCID: GC03P119499

nuclear receptor subfamily 1, group I, member 2

Explore 57 diseases affiliated with
NR1I2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 1, Group I, Member 2¹ ²		Steroid And Xenobiotic Receptor² ³
PXR¹ ² ³ ⁵		PARq² ⁵
SXR¹ ² ³ ⁵		PAR²
BXR¹ ²		PAR1²
ONR1¹ ²		PRR²
PAR2¹ ²		SAR²
Orphan Nuclear Receptor PAR1² ³		Nuclear Receptor Subfamily 1 Group I Member 2²
Orphan Nuclear Receptor PXR² ³		Pregnane X Nuclear Receptor Variant 2²
Pregnane X Receptor² ³

External Ids:	HGNC: 7968¹	Entrez Gene: 8856²	Ensembl: ENSG00000144852⁷	OMIM: 603065⁵	UniProtKB: O75469³

Export aliases for NR1I2 gene to outside databases

Previous GC identifers: GC03P116138 GC03P119128 GC03P120780 GC03P120820 GC03P120982 GC03P116874

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NR1I2:

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)

UniProtKB/Swiss-Prot: NR1I2_HUMAN, O75469

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

summary for NR1I2:

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 (Pregnane X receptor)

PharmGKB "VIP" summary for NR1I2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NR1I2 gene promoter:
PPAR-gamma1 AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NR1I2 promoter sequence

Search SABiosciences Chromatin IP Primers for NR1I2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR1I2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q12-q13.3 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q12-q13.3

NR1I2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR1I2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P119499: view genomic region (about GC identifiers)

Start:	119,499,331 bp from pter	End:	119,537,332 bp from pter
Size:	38,002 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NR1I2_HUMAN, O75469 (See protein sequence)

Recommended Name: Nuclear receptor subfamily 1 group I member 2

Size: 434 amino acids; 49762 Da

Subunit: Heterodimer with RXR. Interacts with NCOA1

Subcellular location: Nucleus

6/10 PDB 3D structures from and Proteopedia for NR1I2 (see all 10):

1ILG (3D)

1ILH (3D)

1M13 (3D)

1NRL (3D)

1SKX (3D)

2O9I (3D)

Secondary accessions: Q006P5 Q008C8 Q96AC7 Q9UJ22 Q9UJ23 Q9UJ24 Q9UJ25 Q9UJ26 Q9UJ27 Q9UNW4

Alternative splicing: 7 isoforms: O75469-1 O75469-2 O75469-3 O75469-4 O75469-5 O75469-6 O75469-7

Explore the universe of human proteins at neXtProt for NR1I2: NX_O75469

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75469

NR1I2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_003880.3 NP_071285.1 NP_148934.1

ENSEMBL proteins:

ENSP00000377319 ENSP00000420297 ENSP00000336528

Reactome Protein details: O75469
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	Uscn Proteins for NR1I2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--

NR1I2 for ontologies About GeneDecksing

NR1I2 Antibody Products:

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	ThermoFisher Antibodies for NR1I2

Assay Products for NR1I2:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NR1I2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NR1I2 for domains About GeneDecksing

5 InterPro domains/families:

IPR013088 Znf_NHR/GATA

IPR008946 Nucl_hormone_rcpt_ligand-bd

IPR000536 Nucl_hrmn_rcpt_lig-bd_core

IPR001628 Znf_hrmn_rcpt

IPR001723 Str_hrmn_rcpt

Graphical View of Domain Structure for InterPro Entry O75469

ProtoNet protein and cluster: O75469

2 Blocks protein families:

IPB000324 Vitamin D receptor signature

IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: NR1I2_HUMAN, O75469

Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NR1I2_HUMAN, O75469

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

miRNA Products:		miRTarBase miRNAs that target NR1I2: hsa-mir-148a (MIRT003998)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR1I2
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate NR1I2:
		hsa-miR-140-3p hsa-miR-647 hsa-miR-3918 hsa-miR-604
		SwitchGear 3'UTR luciferase reporter plasmid: NR1I2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR1I2

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003707	steroid hormone receptor activity	IEA	--
GO:0003713	transcription coactivator activity	TAS	9727070
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA	12578355
GO:0004887	thyroid hormone receptor activity	--	--
GO:0005515	protein binding	IPI	--

NR1I2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for NR1I2:

Increased G1 DNA content

Synthetic lethal with Ras

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for NR1I2: Nr1i2^tm1Sakl Nr1i2^tm3Arte Nr1i2^tm1Rev Nr1i2^tm1.2Ics
7 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Nr1i2):

behavior/neurological	cellular	homeostasis/metabolism	liver/biliary system	mortality/aging
no phenotypic analysis	reproductive system

NR1I2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Nuclear Receptor transcription pathway

Nuclear Receptor transcription pathway

1.00

Nuclear Receptors

0.68

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

Etoposide Pathway, Pharmacokinetics/Pharmacodynamics

Etoposide Pathway, Pharmacokinetics/Pharmacodynamics

1.00

Metformin Pathway, Pharmacodynamic

Metformin Pathway, Pharmacodynamic

1.00

Selected targets of GCR-alpha

Selected targets of GCR-alpha

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for NR1I2

	Selected targets of GCR-alpha
	Selected targets of HNF1

3 BioSystems Pathways for NR1I2

	Nuclear Receptors
	Drug Induction of Bile Acid Pathway
	Nuclear receptors in lipid metabolism and toxicity

3 Reactome Pathways for NR1I2

	Generic Transcription Pathway
	Nuclear Receptor transcription pathway
	Gene Expression

4 PharmGKB Pathways for NR1I2

	Carbamazepine Pathway, Pharmacokinetics
	Etoposide Pathway, Pharmacokinetics/Pharmacodynamics
	Metformin Pathway, Pharmacodynamic
	Taxane Pathway, Pharmacokinetics

NR1I2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NR1I2

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/26 Interacting proteins for NR1I2 (O75469^{1, 3} ENSP00000336528⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
POU1F1	P28069³, ENSP00000342931⁴	I2D: score=2 STRING: ENSP00000342931
PPARGC1A	Q9UBK2³, ENSP00000264867⁴	I2D: score=2 STRING: ENSP00000264867
RXRB	P28702³, ENSP00000363812⁴	I2D: score=2 STRING: ENSP00000363812
PSMC5	P62195³, ENSP00000310572⁴	I2D: score=1 STRING: ENSP00000310572
TADA3	O75528³, ENSP00000307684⁴	I2D: score=1 STRING: ENSP00000307684

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--
GO:0006805	xenobiotic metabolic process	IDA	12578355
GO:0007165	signal transduction	TAS	9784494
GO:0008202	steroid metabolic process	TAS	9784494
GO:0010467	gene expression	TAS	--

NR1I2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NR1I2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for NR1I2

Compounds for NR1I2 available from Tocris Bioscience About this table

Compound	Action	CAS #
SR 12813	Pregnane X receptor agonist	[126411-39-0]
Meclizine dihydrochloride	Human pregnane X receptor agonist; H1 antagonist	[1104-22-9]

1 HMDB Compound for NR1I2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Estradiol	(+)-3,17b-Estradiol (see all 83)	50-28-2	--

9 DrugBank Compounds for NR1I2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Erlotinib	--	183321-74-6	target	agonist	18839173 19733976
Hyperforin	Hiperforina (see all 2)	11079-53-1	target	--	17139284 17016423
Rifampin	RFP (see all 3)	13292-46-1	target	agonist	16480505 19460945
Rifaximin	Rifamixin (see all 8)	80621-81-4	target	agonist	17442842 20627999
SR12813	--	126411-39-0	target	--	17139284 17016423
Vitamin E	alpha-Tocopherol (see all 2)	59-02-9	target	--	16603143 16880233
Estradiol	17beta oestradiol (see all 7)	50-28-2	target	--	17327420
Ethinyl Estradiol	17 alpha-Ethinylestradiol (see all 17)	57-63-6	target	agonist	17327420
N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE	--	--	target	--	10592235

10/121 Novoseek chemical compound relationships for NR1I2 gene (see all 121) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
androstane	97.9	346	11518807 (4), 16399345 (2), 16513849 (2), 19300246 (2) (see all 99)
citco	95	8	19588937 (2), 15933212 (1), 16857725 (1), 12611900 (1)
sr12813	93.2	10	12909012 (4), 17974979 (1), 17573484 (1), 18096694 (1) (see all 6)
rifampicin	88.9	251	15331348 (8), 17687072 (5), 16455805 (4), 14722235 (4) (see all 99)
pregnenolone 16alpha-carbonitrile	88.2	70	15367577 (3), 19147857 (2), 12695359 (2), 18037906 (1) (see all 26)
androstanol	85.2	3	11457660 (1), 10748001 (1)
pregnane	83.8	26	15792627 (1), 17118915 (1), 17392718 (1), 18363644 (1) (see all 14)
dmes	82.7	18	19034627 (2), 16918318 (1), 18537574 (1), 19695866 (1) (see all 7)
hyperforin	79.5	27	12578355 (3), 14600250 (2), 19147857 (2), 20079722 (2) (see all 12)
lithocholic acid	76.6	32	17696253 (5), 11248085 (3), 18645036 (2), 17491508 (2) (see all 12)

1 PharmGKB related drug/compound annotation for NR1I2 gene

Drug/compound	PharmGKB Annotation
rifampin	CA

About this table

Search CenterWatch for drugs/clinical trials and news about NR1I2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NR1I2 gene (3 alternative transcripts):

NM_003889.3 NM_022002.2 NM_033013.2

Unigene Cluster for NR1I2:

Nuclear receptor subfamily 1, group I, member 2

Hs.7303 [show with all ESTs]

Unigene Representative Sequence: AJ009936

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000393716(uc003edj.3) ENST00000466380(uc003edi.3) ENST00000474090

ENST00000337940(uc003edk.3) ENST00000493757(uc003edl.3)

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR1I2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR1I2

Additional cDNA sequence:

AB307701.1 AF061056.1 AF084644.1 AF084645.1 AJ009936.1 AJ009937.1 AK122990.1 AK223456.1

AK310789.1 AY091855.1 BC017304.2 HQ692837.1 HQ709177.1

7 DOTS entries:

DT.205887 DT.91756601 DT.100746671 DT.101962629 DT.100746670 DT.400888 DT.95149227

24/32 AceView cDNA sequences (see all 32):

AI248626 AF084644 NM_033013 AK122990 AI024672 AY091855 BM786179 NM_022002

BV200229 AJ009937 BC017304 AJ009936 BV200231 AF084645 NM_003889 BV200230

BX089366 AA699679 AF061056 CB145174 BM850781 CB129483 BI252289 N94132

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for NR1I2 About this scheme

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

ECgene alternative splicing isoforms for NR1I2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NR1I2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACCTTATAT

About this image

NR1I2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NR1I2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NR1I2

SOURCE GeneReport for Unigene cluster: Hs.7303

UniProtKB/Swiss-Prot: NR1I2_HUMAN, O75469

Tissue specificity: Expressed in liver, colon and small intestine

SABiosciences Expression via Pathway-Focused PCR Arrays including NR1I2:

Neurotrophins & Receptors in human mouse rat

Nuclear Receptors & Coregulators in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NR1I2 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	NR1I3⁶	--	40(a)	possible ortholog	AAWZ02038821(3849-9082)
African clawed frog (Xenopus laevis)	Amphibia	MGC68499²	hypothetical protein MGC68499	75.12(n)		AF305201.1
zebrafish (Danio rerio)	Actinopterygii	nr1i2²	nuclear receptor subfamily 1, group I, member 2	78.03(n)		373875 AF502918.1
fruit fly (Drosophila melanogaster)	Insecta	Hr96⁶	Hormone receptor-like in 96	13(a)	possible ortholog	3R(20850961-20855075)
worm (Caenorhabditis elegans)	Secernentea	nhr-48⁶ nhr-8⁶ (see all 3)	Nuclear hormone receptor family member nhr-8 (see all 3)	9(a) 13(a) (see all 3)	possible ortholog possible ortholog (see all 3)	X(15708153-15716345) IV(7710977-7714670)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NR1I2 gene

VDR² NR4A3² NR4A1² RARG² NR1I3² THRB² RARA² NR1H2²

NR4A2² NR1H4² RARB² THRA² NR1H3²

18/19 SIMAP similar genes for NR1I2 using alignment to 6 protein entries: NR1I2_HUMAN (see all proteins) (see all similar genes):

NR1i2 NR3C2 VDR RORA THRB HNF4G

ESR1 NR1I1 NR1i1 HNF4alpha PPARA NR5A1

NR2C2 NR1I3 NR1H3 NR1H2 NR1H4 NR1A1

NR1I2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9859568^1,2	C,F,A,H,	--	116873240(+)	`AAGGTG/CGTCCT`	2	--	us2k¹		7		NS EA NA WA	538
rs4334674^1,2	H	--	116873616(+)	`TGTCAC/GTGCTT`	2	--	us2k¹		4		NS EA	420
rs954357^1,2	C,H	--	116873686(+)	`GGTAAC/TTTCTA`	2	--	us2k¹		7		MN NS EA NA	602
rs954356^1,2	C,F,H,	--	116873841(+)	`ACTGGC/TTGATA`	2	--	us2k¹		11		MN NS EA NA WA	1396
rs111850163^1,2	C,	--	116873961(+)	`TAAAAC/TATTAA`	2	--	us2k¹		1		WA	2
rs200192928^1,2	C	--	116874303(-)	`AGTTTC/TTTTTT`	2	--	us2k¹		0	--	--	--	--
rs9813490^1,2	C,F,H,	--	116874560(+)	`TGCAGT/CGCTAG`	2	--	us2k¹		7		NS EA NA WA	540
rs55904282^1,2	C,	--	116874942(+)	`TTCCTA/GGGGTG`	2	--	us2k¹		0	--	--	--	--
rs12721602^1,2	C,F,H,	--	116875475(+)	`ATAGAG/AAAGAA`	3	--	ut5¹ us2k¹ trp³		22		NS EA NA MN	3344
rs12721614^1,2	C,F	--	116875991(+)	`CTCCCC/GACTCC`	3	--	ut5¹ us2k¹		2		--	384

HapMap Linkage Disequilibrium report for NR1I2 (119499331 - 119537332 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NR1I2
2 CNVs: 0035 39343
Human Gene Mutation Database (HGMD): NR1I2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NR1I2 for disorders           About GeneDecksing

OMIM gene information: 603065    OMIM disorders: --

20/57 diseases for NR1I2 (see all 57):    About MalaCards

maturity-onset diabetes of the young androgen insensitivity syndrome sclerosing cholangitis primary sclerosing cholangitis

intrahepatic cholestasis intrahepatic cholestasis of pregnancy inflammatory bowel disease xanthomatosis

cholestasis cholangitis primary biliary cirrhosis biliary tract disease

barrett's esophagus osteomalacia biliary atresia fatty liver disease

porphyria acute porphyria hearing loss liver disease

1 disease from the University of Copenhagen DISEASES database for NR1I2:

Cholestasis

10/29 Novoseek disease relationships for NR1I2 gene (see all 29) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholestasis	58.5	13	16565602 (2), 11893771 (1), 19300246 (1), 16025508 (1) (see all 8)
xanthomatosis cerebrotendinous	49.7	3	12509506 (1), 12569201 (1)
cholestasis intrahepatic	40.3	9	19958310 (3), 18800312 (2), 16550034 (1)
colon adenocarcinoma	35.3	2	18332086 (1), 12788075 (1)
inflammatory bowel diseases	33.6	9	19018724 (2), 16472590 (2), 19516190 (1), 17828778 (1) (see all 6)
liver diseases	30.8	20	19925451 (3), 20416375 (2), 16565602 (1), 11248085 (1) (see all 13)
osteomalacia	30.5	4	16691293 (2), 15985196 (1), 16207822 (1)
liver damage	28.6	3	11893771 (1), 11248085 (1)
colon carcinoma	26.5	3	18299335 (1), 12788075 (1)
inflammation	24	24	18334180 (2), 17266551 (1), 18159929 (1), 19505191 (1) (see all 16)

Genetic Association Database (GAD): NR1I2
Human Genome Epidemiology (HuGE) Navigator: NR1I2 (64 documents)

Export disorders for NR1I2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NR1I2 gene, integrated from 9 sources (see all 760):
(articles sorted by number of sources associating them with NR1I2)

Utopia: connect your pdf to the dynamic
world of online information

The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions. (PubMed id 9727070)^{1, 2, 3, 9} Lehmann J.M....Kliewer S.A. (1998)
Identification of a human nuclear receptor defines a new signaling pathway for CYP3A induction. (PubMed id 9770465)^{1, 2, 3} Bertilsson G....Berkenstam A. (1998)
Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. (PubMed id 15618712)^{1, 2, 9} Koyano S.... Sawada J. (2002)
Coactivator binding promotes the specific interaction between ligand and the pregnane X receptor. (PubMed id 12909012)^{1, 2, 9} Watkins R.E.... Redinbo M.R. (2003)
Human CYP3A4 and murine Cyp3A11 are regulated by equol and genistein via the pregnane X receptor in a species-specific manner. (PubMed id 19297428)^{1, 2, 9} Li Y....Ricketts M.L. (2009)
2.1 A crystal structure of human PXR in complex with the St. John's wort compound hyperforin. (PubMed id 12578355)^{1, 2, 9} Watkins R.E....Redinbo M.R. (2003)
SXR, a novel steroid and xenobiotic-sensing nuclear receptor. (PubMed id 9784494)^{1, 2, 9} Blumberg B.... Evans R.M. (1998)
Rifampicin-activated human pregnane X receptor and CY P3A4 induction enhance acetaminophen-induced toxicity. (PubMed id 19460945)^{1, 7, 9} Cheng J....Gonzalez F.J. (2009)
Crystal structure of the pregnane X receptor-estradiol complex provides insights into endobiotic recognition. (PubMed id 17327420)^{1, 7, 9} Xue Y....Redinbo M.R. (2007)
Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis. (PubMed id 15690482)^{1, 4, 9} Kimura Y....Gershwin M.E. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8856	HGNC: 7968	AceView: NR1I2	Ensembl:ENSG00000144852	euGenes: HUgn8856
ECgene: NR1I2	H-InvDB: NR1I2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NR1I2	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/nr1i2/

Intellectual Property for NR1I2 gene
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Patent Information for NR1I2 gene:
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nuclear receptor subfamily 1, group I, member 2

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COLON ADENOCARCINOMA
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NR1I2 Gene

nuclear receptor subfamily 1, group I, member 2

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