Gene Gene information from NCBI Gene database.
Entrez ID 8856
Gene name Nuclear receptor subfamily 1 group I member 2
Gene symbol NR1I2
Synonyms (NCBI Gene)
BXRONR1PARPAR1PAR2PARqPRRPXRSARSXR
Chromosome 3
Chromosome location 3q13.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT002079 hsa-let-7a-5p Luciferase reporter assay 17890240
MIRT002079 hsa-let-7a-5p Luciferase reporter assay 17890240
MIRT003998 hsa-miR-148a-3p Luciferase reporter assayqRT-PCR 18268015
MIRT051226 hsa-miR-16-5p CLASH 23622248
MIRT040092 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
DR1 Activation 18305375
HNF4A Activation 12601364;18305375
NCOR2 Unknown 16219912
NR1H4 Activation 21476904
NR3C1 Unknown 12815172
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 11114890
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603065 7968 ENSG00000144852
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75469
Protein 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)
Protein 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,
PDB 1ILG , 1ILH , 1M13 , 1NRL , 1SKX , 2O9I , 2QNV , 3CTB , 3HVL , 3R8D , 4J5W , 4J5X , 4NY9 , 4S0S , 4S0T , 4X1F , 4X1G , 4XAO , 4XHD , 5A86 , 5X0R , 6BNS , 6DUP , 6HJ2 , 6HTY , 6NX1 , 6P2B , 6S41 , 6TFI , 6XP9 , 7AX8 , 7AX9 , 7AXA , 7AXB , 7AXC , 7AXD , 7AXE , 7AXF , 7AXG , 7AXH , 7AXI , 7AXJ , 7AXK , 7AXL , 7N2A , 7RIO , 7RIU , 7RIV , 7YFK , 8CCT , 8CF9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 39 109 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 238 415 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, colon and small intestine.
Sequence
MEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEG
CKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKK
EMIMSDEAVEE
RRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSS
GCELPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLL
PHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWE
CGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHR
VVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQ
DIHPF
ATPLMQELFGITGS
Sequence length 434
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 25880702
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30646906
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 14583448, 18757438, 28173772, 28187035, 30196987
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21977915
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 17003290, 22363234
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12548614
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 11964083, 18366077, 31048498
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 21977915
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 21977915
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 21977915
★☆☆☆☆
Found in Text Mining only