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.
NR2C2 - nuclear receptor subfamily 2 group C member 2
Function
Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Plays a fundamental role in early embryonic development and embryonic stem cells. Required for normal spermatogenesis and cerebellum development. Appears to be important for neurodevelopmentally regulated behavior (By similarity). Activates transcriptional activity of LHCG. Antagonist of PPARA-mediated transactivation.
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 7182 | ENSG00000177463 | NR2C2 | P49116 |
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 ENSG00000177463 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-04662 | DMD | down-regulates | NR2C2 | represses | R-3509 | 3 | 1 | Drugs (2) |
| CMF-08004 | OR5D13 | down-regulates | NR2C2 | represses | R-3509 | 3 | 1 | Drugs (2) |
| CMF-11742 | BRDT | down-regulates | NR2C2 | represses | R-3509 | 3 | 1 | Drugs (2) |
| CMF-14768 | SLC5A12 | down-regulates | NR2C2 | represses | R-3509 | 3 | 2 | Drugs (2) |
| CMF-17173 | CDH18 | down-regulates | NR2C2 | represses | R-3509 | 3 | 1 | Drugs (2) |
| CMF-22907 | IDH1 | up-regulates | NR2C2 | represses | R-3509 | 3 | 3 | Drugs (2) |
| CMF-24046 | TP53 | up-regulates | NR2C2 | represses | R-3509 | 3 | 3 | Drugs (2) |
| CMF-26336 | CHGB | down-regulates | NR2C2 | represses | R-3509 | 3 | 1 | Drugs (2) |
| CMF-28918 | NR1H4 | down-regulates | NR2C2 | represses | R-3509 | 3 | 2 | Drugs (2) |