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.
NR1H2 - nuclear receptor subfamily 1 group H member 2
Function
Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (By similarity). Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity). 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).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 7376 | ENSG00000131408 | NR1H2 | P55055 |
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 ENSG00000131408 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-04581 | LAMC3 | down-regulates | NR1H2 | activates | R-3606 | 4 | 1 | Drugs (1) |
| CMF-07037 | ATRX | down-regulates | NR1H2 | activates | R-3606 | 4 | 3 | Drugs (1) |
| CMF-20231 | GPR15 | up-regulates | NR1H2 | activates | R-3606 | 4 | 1 | Drugs (1) |
| CMF-22159 | PDGFRA | down-regulates | NR1H2 | activates | R-3606 | 4 | 2 | Drugs (1) |
| CMF-23972 | TP53 | down-regulates | NR1H2 | activates | R-3606 | 4 | 2 | Drugs (1) |
| CMF-24350 | SMCHD1 | up-regulates | NR1H2 | activates | R-3606 | 4 | 1 | Drugs (1) |
| CMF-24535 | SEMA3C | down-regulates | NR1H2 | activates | R-3606 | 4 | 1 | Drugs (1) |
| CMF-28431 | MYO9B | down-regulates | NR1H2 | activates | R-3606 | 4 | 3 | Drugs (1) |