Property Summary

NCBI Gene PubMed Count 47
PubMed Score 0.00
PubTator Score 122.81

Knowledge Summary

Patent

No data available

Synonym

Accession Q9Y5X4 B6ZGU0 Q9UHM4
Symbols PNR
RNR
rd7
ESCS
RP37

Gene

PDB

4LOG  

MLP Assay (11)

AID Type Active / Inconclusive / Inactive Description
2277 screening 14 / 0 / 0 Center Based Initiative to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors.
2300 screening 380 / 0 / 314720 TR-FRET-based primary biochemical high throughput screening assay to identify agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3).
2325 summary 0 / 0 / 0 Summary of probe development efforts to identify agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3).
2379 screening 140 / 0 / 223 TR-FRET-based biochemical high throughput confirmation assay for agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3)
2758 confirmatory 32 / 0 / 93 TR-FRET-based biochemical high throughput dose response assay for agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3)
463256 confirmatory 83 / 0 / 31 TR-FRET-based biochemical high throughput dose response assay to identify NR2E3 inverse agonists
504934 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors
602229 screening 1282 / 0 / 361069 Luminescence-based cell-based high throughput primary screening assay to identify agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3)
624378 screening 1180 / 0 / 1135 Luminescence-based cell-based high throughput confirmation assay for agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3)
624394 confirmatory 203 / 0 / 22 Luminescence-based cell-based high throughput dose response assay for agonists of nuclear receptor subfamily 2, group E, member 3 (NR2E3)
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Gene RIF (40)

PMID Text
26910043 Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene
26149760 NR2E3 is a novel epigenetic regulator that helps to maintain a normal epigenetic status in response to benzo(a)pyrene mediated toxic injury. NR2E3 may be a potential target for cancer prevention.
25079116 Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms
24891813 Molecular genetic studies helped to identify a novel p.D406G mutation in NR2E3 of the Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina affected members.
24747967 Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway.
23975195 PNR/NR2E3 and related NRs such as TLX and COUPTFs can selectively associate with the developmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y within the RID1 domain.
23604511 Genetic screening confirmed the presence of two disease-causing mutations in the NR2E3 gene in each study patient, as well as identified a novel mutation (202 A > G, S68G).
23374571 we report novel mutations in the NR2E3 gene that were discovered in 2 cases with enhanced S-cone syndrome.
23039133 The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations.
22661467 The presence of a double concentric hyperautofluorescent ring of FAF may represent a highly penetrant early phenotypic marker of NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa
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AA Sequence

METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGF      1 - 70
FKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTE     71 - 140
SRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYS    141 - 210
SSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAP    211 - 280
PEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQ    281 - 350
VMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN              351 - 410
//

Text Mined References (47)

PMID Year Title
26910043 2016 Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
26149760 2015 Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter.
25079116 2014 Clinical and molecular characterization of enhanced S-cone syndrome in children.
24891813 2014 A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
24747967 2015 IL-13R?2 mediates PNR-induced migration and metastasis in ER?-negative breast cancer.
24069298 2013 The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
23975195 2013 A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.
23604511 2013 Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
23374571 2013 Novel mutations in enhanced S-cone syndrome.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
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