Overview
| Alternate Names: | orphan nuclear receptor PXR; steroid and xenobiotic receptor |
|---|---|
| Alternate Symbols: | BXR; ONR1; PAR; PAR1; PAR2; PARq; PRR; PXR; SAR; SXR |
| PharmGKB Accession Id: | PA378 |
Details
| Cytogenetic Location: | chr3 : q13.33 |
|---|---|
| GP mRNA Boundary†: | chr3 : 120982021 - 121020022 |
| GP Gene Boundary†: | chr3 : 120972021 - 121023022 |
| Strand: | plus |
| Product Name: | pregnane X receptor, pregnane X receptor isoform 1, pregnane X receptor isoform 1l, pregnane X receptor isoform 2, pregnane X receptor isoform 3, steroid and xenobiotic receptor |
Curated Annotations (
)
-
rs2472677
at chr3:121001107
in
NR1I2
The CC homozygote of the NR1I2:63396C>T variant is associated with a high level of NR1I2 (PXR) gene induction by rifampicin as measured by increased activity of CYP3A4. This observation was particularly pronounced in livers from male subjects. Samples with the T allele had higher basal levels of NR1I2 mRNA and higher basal activity of CYP3A4. This SNP is predicted to be within a FOXA2 (HNF3beta) transcription factor binding site. This SNP is in LD with 63704G>A (rs12492296), 63813(CAAA)n/(CA)n, and 65104T>C.- Variant Name:
- NR1I2:63396C>T, PXR 63396C>T
- Related Drugs:
- rifampin
- Evidence:
-
PMID:17925385
-
rs2461823
at chr3:121002815
in
NR1I2
Risk or phenotype-associated allele: A. Phenotype: The multimarker composed of rs2461823/A-rs7643645/G was significantly associated with severity of nonalcoholic fatty liver disease (NAFLD). Study size: 290. Study population/ethnicity: 188 NAFLD patients with different stages of disease severity and 102 healthy individuals. metric(s): P<6.9x10, beta: 0.45. Type of association: GN.- Related Diseases:
- Fatty Liver
- Evidence:
-
PMID:19940802
-
rs7643645
at chr3:121008187
in
NR1I2
Risk or phenotype-associated allele: G. Phenotype: The multimarker composed of rs2461823/A-rs7643645/G was significantly associated with severity of nonalcoholic fatty liver disease (NAFLD) (P<6.9x10, beta: 0.45). In univariate analysis rs7643645/G was significantly associated with fatty liver disease (P<0.04), with an odds ratio of 1.457 (95% confidence interval: 1.018-2.086). Study size: 290. Study population/ethnicity: 188 NAFLD patients with different stages of disease severity and 102 healthy individuals. Type of association: GN.- Related Diseases:
- Fatty Liver
- Evidence:
-
PMID:19940802
-
rs12721608
at chr3:121013109
in
NR1I2
The variant NR1I2 R122Q protein had significantly decreased affinity for the PXR binding sequence in electromobility shift assays. In a transient transfection assays this SNP showed attenuated ligand activation of the CYP3A4 reporter plasmids. The study reports that the person heterozygous for PXR*4 is normal for CYP3A4 metabolism phenotype.- Variant Name:
- NR1I2: PXR*4; R122Q; 4321G>A
- Evidence:
-
PMID:11668216
Curated Information
The following genes are in curated knowledge about this gene.
| Gene | Relationship | Evidence | |
|---|---|---|---|
|
|
ABCB1 |
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Publications |
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CYP3A4 |
|
Publications |
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SREBF1 |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
|
antineoplastic agents |
|
Publications |
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artemisinin and derivatives |
|
Publications |
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non-nucleoside reverse transcriptase inhibitors |
|
Publications |
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protease inhibitors |
|
Publications |
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vitamin d and analogues |
|
Publications |
|
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xenobiotics |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
|
aspirin-induced asthma |
|
Publications |
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Epilepsy |
|
Publications |
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Fatty Liver |
|
Publications, Variants |
|
|
HIV |
|
Publications |
|
|
HIV Infections |
|
Publications |
|
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Inflammatory Bowel Diseases |
|
Publications |
|
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Neoplasms |
|
Pathways |
|
|
Osteosarcoma |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Curated Phenotype Datasets
These datasets are sorted alphabetically by title.
- In vivo and in vitro characterization of variants




- PD
- PK
- FA
Submitted by Mary Relling, PharmD involving CYP3A, CYP3A4, CYP3A5, NR1I2, , midazolam, nifedipine, rifampin and troleandomycin - mRNA expression levels of PXR splice variants in livers




- FA
Submitted by Erin G. Schuetz, PhD involving CYP3A4, NR1I2, , amiodarone, cimetidine, dopamine, erythromycin, ethanol, glucocorticoids, hmg coa reductase inhibitors, midazolam, nicotine, phenobarbital, phenytoin, propofol, thyroid preparations and vasopressin
Downloads
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LinkOuts
- Entrez Gene ID:
- 8856
- OMIM Accession:
- 603065
- UCSC Genome Browser ID:
- NM_003889
- Ref Seq NM Accession:
- NM_003889
- NM_022002
- NM_033013
- Ref Seq NP Accession:
- AAC64557
- AAC64558
- AAD05436
- AAG23345
- AAH17304
- AAK38720
- AAK38721
- AAK38722
- AAM26736
- ABJ52965
- BAG53837
- BAH02292
- CAB55489
- CAB55490
- CAB55491
- CAB55492
- CAB55493
- CAB55494
- EAW79537
- EAW79538
- EAW79539
- NP_003880
- NP_071285
- NP_148934
- O75469
- Q9H4M8
- Ref Seq NT Accession:
- AC_000046
- AC_000135
- NC_000003
- NG_011856
- NT_005612
- NW_001838881
- NW_921807
- UniProtKB Accesssion:
- NR1I2_HUMAN (O75469)
- Ensembl ID:
- ENSG00000144852
- GenAtlas ID:
- NR1I2
- GeneCard ID:
- NR1I2
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.
