DISEASES

Disease-gene associations mined from literature

Literature associating NR2C2 and cortical thymoma

NR2C2 [ENSP00000483059]

Nuclear receptor subfamily 2 group C member 2; 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. ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920,

Synonyms:  NR2C2,  NR2C2p,  hNR2C2,  C9J2Y1,  C9JKS0 ...

Linkouts:  STRING  Pharos  UniProt