Aliases for NR2C1 Gene
External Ids for NR2C1 Gene
Previous HGNC Symbols for NR2C1 Gene
Previous GeneCards Identifiers for NR2C1 Gene
This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for NR2C1 Gene
NR2C1 (Nuclear Receptor Subfamily 2 Group C Member 1) is a Protein Coding gene. Diseases associated with NR2C1 include Myopathy, Proximal, With Ophthalmoplegia. Among its related pathways are Signaling events mediated by HDAC Class I and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR2C2.
UniProtKB/Swiss-Prot Summary for NR2C1 Gene
Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation.