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 |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
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
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Curated Information
The following genes are in curated knowledge about this gene.
| Gene | Relationship | Evidence | |
|---|---|---|---|
|
ABCB1 |
|
Publications |
|
|
CYP3A4 |
|
Publications |
|
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 |
|
|
artemisinin and derivatives |
|
Publications |
|
|
non-nucleoside reverse transcriptase inhibitors |
|
Publications |
|
|
protease inhibitors |
|
Publications |
|
|
vitamin d and analogues |
|
Publications |
|
|
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 |
|
|
Epilepsy |
|
Publications |
|
|
Fatty Liver |
|
Publications, Variants |
|
|
HIV |
|
Publications |
|
|
HIV Infections |
|
Publications |
|
|
Inflammatory Bowel Diseases |
|
Publications |
|
|
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.