Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8856
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Nuclear receptor subfamily 1 group I member 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
NR1I2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
BXR, ONR1, PAR, PAR1, PAR2, PARq, PRR, PXR, SAR, SXR |
Chromosome
Chromosome number
|
3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3q13.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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 |
|
Sequence length |
434 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Adenocarcinoma |
Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular |
rs121913530, rs886039394, rs121913474 |
21977915 |
Carcinoma |
Carcinoma, Cribriform, Carcinoma, Granular Cell |
rs121912654, rs555607708, rs786202962, rs1564055259 |
21977915 |
Diabetes mellitus |
Diabetes Mellitus |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 View all (293 more) |
20869355 |
Esophagus neoplasm |
Esophageal Neoplasms, Malignant neoplasm of esophagus |
rs28934578, rs121918714, rs1567556006, rs1575166666 |
21977915 |
Metabolic syndrome |
Metabolic Syndrome X |
rs367643250, rs587777380, rs777736953 |
20869355 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20869355 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Barrett esophagus |
Barrett Esophagus |
|
21977915 |
ClinVar |
Lymphoma |
pediatric lymphoma |
|
|
GenCC |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acquired Immunodeficiency Syndrome |
Associate
|
28327790 |
Acute Disease |
Associate
|
30487649 |
Adenocarcinoma |
Associate
|
21977915 |
Barrett Esophagus |
Associate
|
21977915 |
Brain Diseases |
Associate
|
28199000 |
Breast Neoplasms |
Associate
|
18565212, 18981011, 19010908, 19123943, 19746521, 27644647 |
Carcinogenesis |
Associate
|
21342487 |
Carcinoma Hepatocellular |
Associate
|
21127053, 21764778, 22023334, 22447115, 25024626, 26232425, 31739702, 32106230, 33941198, 34257549, 36091935, 36707511, 38052560 |
Carcinoma Non Small Cell Lung |
Associate
|
27878971, 36231056 |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
Associate
|
22986532 |
Cholangitis Sclerosing |
Associate
|
26504856 |
Cholestasis |
Associate
|
15331348, 16455805 |
Colitis Ulcerative |
Associate
|
21245992, 33686088 |
Colonic Neoplasms |
Associate
|
20196838 |
Colorectal Neoplasms |
Associate
|
20041327, 20196838, 20836841, 21342487, 21733184 |
Crohn Disease |
Associate
|
19664207, 32024859, 32678214 |
Crohn Disease |
Inhibit
|
27013401 |
Cytokine Release Syndrome |
Associate
|
27664279 |
Death |
Associate
|
30779340 |
Dermatitis Atopic |
Associate
|
29273149 |
Diabetes Mellitus |
Associate
|
26855179 |
Diabetes Mellitus |
Stimulate
|
28436464 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
26855179, 27566582, 27644647 |
Edema |
Associate
|
28335376 |
End Stage Liver Disease |
Inhibit
|
23087145 |
Epilepsy |
Associate
|
21316268 |
Esophageal Neoplasms |
Associate
|
36475339 |
Esophageal Squamous Cell Carcinoma |
Associate
|
19860844 |
Fatty Liver |
Associate
|
24300333 |
Fibrosis |
Inhibit
|
23462698 |
Gastroesophageal Reflux |
Associate
|
21977915 |
Gastrointestinal Stromal Tumors |
Associate
|
28335376 |
Glioblastoma |
Associate
|
26526635 |
Glioma |
Associate
|
26526635 |
Hereditary leiomyomatosis and renal cell cancer |
Associate
|
39322061 |
HIV Infections |
Inhibit
|
23106848 |
HIV Infections |
Associate
|
23173844, 28327790, 30779340, 35690682 |
Hodgkin Disease |
Associate
|
39322061 |
Hypersensitivity |
Associate
|
27706725 |
Infections |
Stimulate
|
29698627 |
Inflammation |
Associate
|
16841097, 19860844, 24300333, 27664279, 29698627, 31101589, 35053380, 39322061 |
Inflammatory Bowel Diseases |
Associate
|
21245992, 26855179, 31581194 |
Inflammatory Bowel Diseases |
Inhibit
|
27013401, 32024859 |
Intrahepatic Cholestasis of Pregnancy |
Associate
|
24498169, 28575098 |
Ischemic Stroke |
Associate
|
30487649 |
Liver Cirrhosis Biliary |
Stimulate
|
26504856 |
Liver Diseases |
Associate
|
11466304 |
Liver Failure |
Associate
|
29067470, 34949673 |
Lung Neoplasms |
Associate
|
25268617 |
Lymphoma |
Associate
|
21918980, 39322061 |
Metabolic Diseases |
Associate
|
32659470 |
Metabolic Syndrome |
Associate
|
29246152 |
Multiple Myeloma |
Associate
|
25669983 |
Neoplasm Metastasis |
Associate
|
25268617 |
Neoplasms |
Associate
|
17279585, 19860844, 22050110, 22986532, 23536728, 25268617, 26855179, 29470550, 30566892, 35053380, 35487057 |
Neoplasms |
Inhibit
|
25141867 |
Neurodegenerative Diseases |
Associate
|
17215127 |
Niemann Pick Disease Type C |
Associate
|
17215127 |
Non alcoholic Fatty Liver Disease |
Associate
|
26855179, 35062050 |
Obesity |
Associate
|
26855179 |
Osteosarcoma |
Associate
|
17279585 |
Ototoxicity |
Associate
|
21127053 |
Pancreatic Neoplasms |
Associate
|
30566892, 34134622 |
Peripheral Nervous System Diseases |
Associate
|
30779340 |
Precancerous Conditions |
Associate
|
25268617 |
Prostatic Neoplasms |
Associate
|
22050110, 22986532, 23919967, 24924803 |
Prostatic Neoplasms Castration Resistant |
Associate
|
23919967 |
Protein S Deficiency |
Associate
|
38052560 |
Rectal Neoplasms |
Associate
|
37369459 |
Sarcoidosis |
Associate
|
28836875 |
Smoke Inhalation Injury |
Associate
|
25268617 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
23137910, 29470550, 40532857 |
Tuberculosis |
Associate
|
30779340 |
Venous Thrombosis |
Associate
|
22533697 |
|