• Gene id: 8856

Gene Summary

• Gene Symbol: NR1I2   Gene   UCSC   Ensembl
• Aliases: BXR, ONR1, PAR, PAR1, PAR2, PARq, PRR, PXR, SAR, SXR
• Gene name: nuclear receptor subfamily 1 group I member 2
• Alternate names: nuclear receptor subfamily 1 group I member 2, orphan nuclear receptor PAR1, orphan nuclear receptor PXR, pregnane X nuclear receptor variant 2, pregnane X receptor, steroid and xenobiotic receptor,
• Gene location: 3q13.33 (119780483: 119818484)     Exons: 10     NC_000003.12
• Gene summary(Entrez): 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 CYP
• OMIM: 603065

SNPs

rs2472680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.119808929T>A
NC_000003.12   g.119808929T>C
NC_000003.12   g.119808929T>G
NC_000003.11   g.119527776T>A
NC_000003.11   g.119527776T>C
NC_000003.11   g.119527776T>G
NG_011856.1   g.33446T>A
NG_011856.1   g.33446T>C
NG_011856.1   g.33446T>G|SEQ=[T/A/C/G]

Protein Summary

• Protein general information: O75469  
  • Name: Nuclear receptor subfamily 1 group I member 2 (Orphan nuclear receptor PAR1) (Orphan nuclear receptor PXR) (Pregnane X receptor) (Steroid and xenobiotic receptor) (SXR)
  • Length: 434  
  • Mass: 49,762
• Sequence:

  MEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARL
  RCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMM
  IRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNY
  KPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWE
  CGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKS
  YIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS

• Structural information:
  • Protein Domains: NR (146-433)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1ILG 1ILH 1M13 1NRL 1SKX 2O9I 2QNV 3CTB 3HVL 3R8D 4J5W 4J5X 4NY9 4S0S 4S0T 4X1F 4X1G 4XAO 4XHD 5A86 5X0R 6BNS
  • PDBsum: 1ILG 1ILH 1M13 1NRL 1SKX 2O9I 2QNV 3CTB 3HVL 3R8D 4J5W 4J5X 4NY9 4S0S 4S0T 4X1F 4X1G 4XAO 4XHD 5A86 5X0R 6BNS
  • STRING: ENSP00000336528
• Other Databases: GeneCards:  NR1I2  Malacards:  NR1I2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008202	steroid metabolic process	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0042908	xenobiotic transport	IDA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046618	drug export	IDA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008202	steroid metabolic process	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0042908	xenobiotic transport	IDA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046618	drug export	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0008202	steroid metabolic process	TAS	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0042908	xenobiotic transport	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046618	drug export	IDA	biological process

Diseases

Associated diseases	References
Cancer	GAD: 19124506
Cancer (colorectal)	GAD: 20836841
Cancer (head and neck)	GAD: 20819778
Cancer (lung)	GAD: 19470925
Cancer (breast)	GAD: 19124506
Myocardial Infarction	GAD: 19786296
Cardiovascular disease	GAD: 19786296
Primary biliary cirrhosis	GAD: 15690482
Sclerosing cholangitis	GAD: 16952547
Ulcerative colitis	GAD: 18381611
Inflammatory bowel disease	GAD: 16472590
Crohn's disease	GAD: 18381611
Osteoporosis	GAD: 19702932
Epilepsy	GAD: 17924830
Cirrhosis	GAD: 15690482
Hearing Loss	GAD: 19898482
Chronic renal failure	GAD: 21085059
Pregnancy complications	GAD: 18800312
Hypospadias	MIK: 22648180
Cryptorchidism	MIK: 22648180
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22648180
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22648180	Cryptorchidism, hypospadias	ARNT2 (rs2278705 and rs5000770), CYP1A2 (rs2069521), CYP17A1 (rs4919686), NR1I2 (rs2472680), AHR (rs3757824) and ARNT2 (rs1020397)	Japanes e, Ital ian	521 (334 Japanese (JPN) males (141 controls, 95 CO and 98 HS), 187 Italian (ITA) males (129 controls and 58 CO))	Male infertility	AHR AHRR ARNT ARNT2 NR1I2 RXRA RXRB RXRG CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP3A4 CYP17A1 andCYP19A1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R