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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NR1I2
nuclear receptor subfamily 1 group I member 2
Chromosome 3 · 3q13.33
NCBI Gene: 8856Ensembl: ENSG00000144852.20HGNC: HGNC:7968UniProt: F1D8P9
395PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTranscription Factor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionRNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificnuclear receptor activityskin diseaseadolescent idiopathic scoliosisulcerative colitisneurodegenerative disease
✦AI Summary

NR1I2 (pregnane X receptor, PXR) is a ligand-activated nuclear transcription factor that serves as a critical xenobiotic sensor regulating drug metabolism and detoxification pathways 1. Upon activation by diverse ligands including xenobiotics and endogenous compounds, NR1I2 translocates to the nucleus and regulates transcription of major drug-metabolizing enzymes and transporters, facilitating xenobiotic elimination 1. Beyond xenobiotic metabolism, NR1I2 plays important roles in maintaining gastrointestinal barrier function, where microbial metabolites like indole 3-propionic acid activate PXR to regulate intestinal barrier integrity through modulation of TNF-α and junctional proteins, with PXR-deficient mice showing increased gut permeability 2. NR1I2 also demonstrates protective vascular functions, as PXR activation suppresses abdominal aortic aneurysm formation by inhibiting oxidative stress through the GABRA3-ROS-JNK pathway 3. Genetic polymorphisms in NR1I2 have been studied for associations with drug-induced hepatotoxicity and disease susceptibility, though meta-analyses show inconsistent results for anti-tuberculosis drug-induced hepatotoxicity 4 and inflammatory bowel disease risk 5. However, specific NR1I2 variants like rs7643645 have been associated with HIV progression to AIDS 6, and rs3814055 may contribute to anti-tuberculosis drug hepatotoxicity risk 7.

Sources cited
1
NR1I2 is a xenobiotic sensor that regulates drug-metabolizing enzymes and transporters
PMID: 29199543
2
NR1I2 regulates intestinal barrier function through microbial metabolite sensing
PMID: 25065623
3
PXR activation protects against abdominal aortic aneurysm by inhibiting oxidative stress
PMID: 39427444
4
Meta-analysis found no significant association between NR1I2 polymorphisms and anti-tuberculosis drug hepatotoxicity
PMID: 33300686
5
Meta-analysis showed no association between NR1I2 polymorphisms and inflammatory bowel disease risk
PMID: 27894906
6
NR1I2 rs7643645 polymorphism is associated with HIV progression to AIDS
PMID: 28327790
7
NR1I2 rs3814055 variant may contribute to anti-tuberculosis drug hepatotoxicity risk
PMID: 35723590
Disease Associationsⓘ20
skin diseaseOpen Targets
0.32Weak
adolescent idiopathic scoliosisOpen Targets
0.32Weak
ulcerative colitisOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
obesityOpen Targets
0.16Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
lung cancerOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
colitisOpen Targets
0.10Suggestive
dilated cardiomyopathyOpen Targets
0.10Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.10Suggestive
diabetic nephropathyOpen Targets
0.10Suggestive
microphthalmia with limb anomaliesOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A6Protein interaction98%UGT1A1Protein interaction97%UGT1A7Protein interaction97%UGT1A10Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
2%
Ovary
0%
Heart
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
NR1I2UGT1A4UGT1A8UGT1A6UGT1A1UGT1A7UGT1A10
PROTEIN STRUCTURE
Preparing viewer…
PDB9FZJ · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.71–1.18]
RankingsWhere NR1I2 stands among ~20K protein-coding genes
  • #748of 20,598
    Most Researched395 · top 5%
  • #12,326of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedNR1I2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
NR1I2 genetic polymorphisms and the risk of anti-tuberculosis drug-induced hepatotoxicity: A systematic review and meta-analysis.
PMID: 33300686
Pharmacol Res Perspect · 2020
1.00
2
Relationship between NR1I2 polymorphisms and inflammatory bowel disease risk: A systematic review and meta-analysis.
PMID: 27894906
Clin Res Hepatol Gastroenterol · 2017
0.90
3
Association of NR1I2 gene polymorphisms and time of progression to AIDS.
PMID: 28327790
Mem Inst Oswaldo Cruz · 2017
0.80
4
Relevance of gene polymorphisms of NAT2 and NR1I2 to anti-tuberculosis drug-induced hepatotoxicity.
PMID: 35723590
Xenobiotica · 2022
0.70
5
Environmental contaminants activate human and polar bear (Ursus maritimus) pregnane X receptors (PXR, NR1I2) differently.
PMID: 25680588
Toxicol Appl Pharmacol · 2015
0.64