Disease-gene associations mined from literature

Literature associating NR1I2 and primary sclerosing cholangitis

NR1I2 [ENSP00000336528]

Nuclear receptor subfamily 1 group I member 2; 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, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes. ECO:0000269|PubMed:11668216, ECO:0000269|PubMed:12578355, ECO:0000269|PubMed:18768384, ECO:0000269|PubMed:19297428,; Belongs to the nuclear hormone receptor family. NR1 subfamily.

Synonyms:  NR1I2,  NR1I2p,  hNR1I2,  F1D8P9,  H0Y8E2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM