Gene: NR2E3

Alternate names for this Gene: ESCS|PNR|RNR|RP37|rd7

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q23

Description of this Gene: nuclear receptor subfamily 2 group E member 3

Type of Gene: protein-coding

rs372460062 in NR2E3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104894492 in NR2E3 gene and Enhanced S-Cone Syndrome PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

PMID 16225923 2005 Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

PMID 15459973 2004 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

PMID 12963616 2003 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 21364904 2011 Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 11773633 2002 We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.

PMID 17438525 2007 Our analysis show that two ESCS mutations, missense mutations R385P and M407K, abolished NR2E3 repressive activity in the context of full-length and Gal4 chimeric receptors, while W234S and R311Q mutants retained their repressive activity in both assays.

rs28937873 in NR2E3 gene and Goldmann-Favre syndrome (disorder) PMID 19823680 2009 Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 18835469 2009 Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.

PMID 17438525 2007 The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 28944237 2017 Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PMID 19139342 2009 A fifth patient, a 10-year-old boy with heterozygotic mutations R311Q and delF71, had diminished foveal reflexes and subtle pigmentary changes, perhaps a forme fruste of Goldmann-Favre syndrome.

PMID 26894784 2016 Macular cystoid spaces in patients with retinal dystrophy.

PMID 27874104 2016 Identifying mutations in Tunisian families with retinal dystrophy.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

PMID 16024868 2005 An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

rs121912631 in NR2E3 gene and RETINITIS PIGMENTOSA 37 (disorder) PMID 17564971 2007 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

PMID 19006237 2009 Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

PMID 21364904 2011 Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

PMID 19273793 2009 The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

PMID 12963616 2003 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

PMID 19898638 2009 A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 10655056 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

PMID 15459973 2004 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 18294254 2008 Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 17438525 2007 The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 11773633 2002 The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

PMID 24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

PMID 15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

PMID 11071390 2000 The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

rs121912631 in NR2E3 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs113441626 in NR2E3 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs113441626 in NR2E3 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.