Photoreceptor Cell Specific Nuclear Receptor (PNR)

NR2E3; PNR; ESCS; RNR; Rd7; Nuclear Receptor Subfamily 2,Group E,Member 3; Protein tailless homolog; Nuclear receptor TLX

SPN	S833
HGNC	7974
MGI	1346317
PubMed	11725181
UniProt	Q9Y5X4
Wiki	PNR

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.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..

Reference

"Identification of a photoreceptor cell-specific nuclear receptor."
Proc. Natl. Acad. Sci. U.S.A. 96:4814-4819(1999) [PubMed] [Europe PMC] [Abstract]

"Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells."
Proc. Natl. Acad. Sci. U.S.A. 96:15149-15154(1999) [PubMed] [Europe PMC] [Abstract]

"The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes."
Hum. Mol. Genet. 14:747-764(2005) [PubMed] [Europe PMC] [Abstract]

"The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation."
PLoS ONE 8:E74359-E74359(2013) [PubMed] [Europe PMC] [Abstract]

"The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition."
Hum. Genet. 107:276-284(2000) [PubMed] [Europe PMC] [Abstract]

"Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate."
Nat. Genet. 24:127-131(2000) [PubMed] [Europe PMC] [Abstract]

"Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration."
Arch. Ophthalmol. 121:1316-1323(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome."
Hum. Mutat. 24:439-439(2004) [PubMed] [Europe PMC] [Abstract]

"Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity."
Ophthalmology 112:2115-2115(2005) [PubMed] [Europe PMC] [Abstract]

"Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa."
Am. J. Hum. Genet. 81:147-157(2007) [PubMed] [Europe PMC] [Abstract]

"Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies."
Clin. Genet. 73:360-366(2008) [PubMed] [Europe PMC] [Abstract]

"Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family."
Hum. Mutat. 30:342-351(2009) [PubMed] [Europe PMC] [Abstract]