Aliases for NR2E3 Gene
External Ids for NR2E3 Gene
Previous GeneCards Identifiers for NR2E3 Gene
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for NR2E3 Gene
NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3) is a Protein Coding gene. Diseases associated with NR2E3 include Enhanced S-Cone Syndrome and Retinitis Pigmentosa 37. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and steroid hormone receptor activity. An important paralog of this gene is NR2E1.
UniProtKB/Swiss-Prot for NR2E3 Gene
Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.