Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
NR5A2 - nuclear receptor subfamily 5 group A member 2
Function
Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 2494 | ENSG00000116833 | NR5A2 | O00482 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000116833 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-13303 | ADAM22 | up-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-16805 | DDX11L2 | down-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-19655 | RPSAP58 | up-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-20666 | CYP4B1 | up-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-24598 | THADA | down-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-26317 | CHGB | up-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-30535 | JHDM1D | down-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |
| CMF-30749 | POLRMT | up-regulates | NR5A2 | activates | R-3773 | 3 | 1 | Drugs (5) Regulator Drugs (0)Regulon Drugs (5)BINTRAFUSP ALFA, LUSPATERCEPT, FRESOLIMUMAB, OCRIPLASMIN, LY-2382770 |