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. Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS). ESCS is an autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP37 inheritance is autosomal dominant. Belongs to the nuclear hormone receptor family. NR2 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Molecular Function: ligand-dependent nuclear receptor activity; protein binding; sequence-specific DNA binding
Biological Process: phototransduction; positive regulation of transcription from RNA polymerase II promoter; signal transduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter