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NR2E3 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.
Protein type: Nuclear receptor
Chromosomal Location of Human Ortholog: 15q23
Cellular Component: nucleoplasm; nucleus; transcription factor complex
Molecular Function: ligand-dependent nuclear receptor activity; protein binding; sequence-specific DNA binding; steroid hormone receptor activity; zinc ion binding
Biological Process: eye photoreceptor cell development; intracellular receptor signaling pathway; negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; phototransduction; positive regulation of rhodopsin gene expression; positive regulation of transcription from RNA polymerase II promoter; retina development in camera-type eye; signal transduction; steroid hormone mediated signaling; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; visual perception
Disease: Enhanced S-cone Syndrome; Retinitis Pigmentosa 37
Reference #:  Q9Y5X4 (UniProtKB)
Alt. Names/Synonyms: ESCS; MGC49976; NR2E3; Nuclear receptor subfamily 2 group E member 3; nuclear receptor subfamily 2, group E, member 3; Photoreceptor-specific nuclear receptor; PNR; rd7; Retina-specific nuclear receptor; RNR; RP37
Gene Symbols: NR2E3
Molecular weight: 44,692 Da
Basal Isoelectric point: 8.17  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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