| Tchem | Photoreceptor-specific nuclear receptor |
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.
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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| Goldmann-Favre syndrome (disorder) | 1 |
| RETINITIS PIGMENTOSA 37 (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7933 | 5.76753818267074E-5 |
| psoriasis | 6685 | 1.37754832339994E-4 |
| group 3 medulloblastoma | 2254 | 0.028222103693256 |
| Disease | Target Count |
|---|---|
| Retinitis pigmentosa | 156 |
| Retinitis pigmentosa 37 | 1 |
| enhanced S-cone syndrome | 2 |
| Disease | Target Count |
|---|---|
| Enhanced S cone syndrome | 1 |
| Disease | log2 FC | p |
|---|---|---|
| psoriasis | -1.200 | 0.000 |
| osteosarcoma | -1.558 | 0.000 |
| group 3 medulloblastoma | 1.400 | 0.028 |
| Species | Source |
|---|---|
| Macaque | OMA Inparanoid |
| Mouse | OMA Inparanoid |
| Cow | OMA Inparanoid |
| Chicken | OMA Inparanoid |
| Xenopus | OMA Inparanoid |
| 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) |
| More... |
| 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 |
| More... |
METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGF 1 - 70 FKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTE 71 - 140 SRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYS 141 - 210 SSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAP 211 - 280 PEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQ 281 - 350 VMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN 351 - 410 //
| 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. |
| More... |
