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Gene and Protein Information ![]() |
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Species | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | 410 | 15q23 | NR2E3 | nuclear receptor subfamily 2 group E member 3 | 8 |
Mouse | 395 | 9 32.35 cM | Nr2e3 | nuclear receptor subfamily 2, group E, member 3 | 4 |
Gene and Protein Information Comments | |||||
PNR is absent from the Rat Genome Database. |
Database Links ![]() |
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Alphafold | Q9Y5X4 (Hs), Q9QXZ7 (Mm) |
CATH/Gene3D | 3.30.50.10 |
ChEMBL Target | CHEMBL4374 (Hs) |
Ensembl Gene | ENSG00000278570 (Hs), ENSMUSG00000032292 (Mm) |
Entrez Gene | 10002 (Hs), 23958 (Mm) |
Human Protein Atlas | ENSG00000278570 (Hs) |
KEGG Gene | hsa:10002 (Hs), mmu:23958 (Mm) |
OMIM | 604485 (Hs) |
Orphanet | ORPHA123912 (Hs) |
Pharos | Q9Y5X4 (Hs) |
RefSeq Nucleotide | NM_016346 (Hs), NM_013708 (Mm) |
RefSeq Protein | NP_055064 (Hs), NP_038736 (Mm) |
UniProtKB | Q9Y5X4 (Hs), Q9QXZ7 (Mm) |
Wikipedia | NR2E3 (Hs) |
Natural/Endogenous Ligands ![]() |
Comments: Orphan |
DNA Binding ![]() |
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DNA Binding Comments | |||||||
The DNA binding domain of NR2E3 presents an unsual P-Box reminiscent of the DBD of the orphan NR2E1. However, NR2E3 does not bind the monomeric RE recognize by NR2E1 but a direct repeat element containing two AAGTCA half-sites separated by one spacer nucleotide [8]. |
Co-binding Partners ![]() |
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Name | Interaction | Effect | Reference |
Crx | Physical | NR2E3 and Crx interact via the DNA-binding domain of each protein. The promoter/enhancer occupancy of NR2E3 is Crx-dependent, suggesting that NR2E3 is associated with photoreceptor gene targets by interacting with Crx. | 9 |
Main Target Genes ![]() |
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Name | Species | Effect | Technique | Comments | References |
RHODOPSIN | Human | Activated | ChIP, Transient transfection, Other | NR2E3 enhances the synergistic activation of the rhodopsin promoter by Crx and Nrl together. This effect is observed in other species. | 9 |
M-cone Opsin | Human | Repressed | ChIP, Transient transfection, Other | NR2E3 inhibits the synergistic activation of the M-cone opsin promoter by Crx and Nrl together. (Also in rodents and other species) | 9 |
S-cone Opsin | Human | Repressed | ChIP, Transient transfection, Other | NR2E3 inhibits the synergistic activation of the S-cone opsin promoter by Crx and Nrl together. | 9 |
Tissue Distribution ![]() |
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Tissue Distribution Comments | ||||||||
This gene is expressed in human as 7.5 kb, 3 kb and 2.3 kb transcripts whereas in mouse a unique 2.3 kb species was detected. These transcripts are exclusively expressed in the retina and in situ hybridization experiments reveal that the expression was restricted to the outer nuclear layer which contains the nuclei of cone and rod photoreceptor cells. These data suggest that one essential function of PNR is eye development. This has been substantiated by knock-out experiments as well as by the implication of PNR in a disorder of retinal fate in human. |
Phenotypes, Alleles and Disease Models ![]() |
Mouse data from MGI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Clinically-Relevant Mutations and Pathophysiology ![]() |
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Clinically-Relevant Mutations and Pathophysiology Comments | ||||||||||||||||||
Spontaneous mutation associated with retinal degeneration. This mutation is a deletion of exons 4 and 5, resulting in the absence of 380 bp from the transcript. The predicted protein expressed from this allele would lack 127 amino acids including sequences corresponding to the DNA binding domain. The deletion also introduces a frameshift and creates a premature stop codon. The rd7 mouse is an animal model for human hereditary retinal degeneration [1]. |
1. Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Danciger M, Davisson MT, Farber DB. (2000) A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci USA, 97 (10): 5551-6. [PMID:10805811]
2. Bumsted O'Brien KM, Cheng H, Jiang Y, Schulte D, Swaroop A, Hendrickson AE. (2004) Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Invest Ophthalmol Vis Sci, 45 (8): 2807-12. [PMID:15277507]
3. Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI. (2005) An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol, 89 (8): 1065-6. [PMID:16024868]
4. Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey CT, Austin CP. (1999) Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells. Proc Natl Acad Sci USA, 96 (26): 15149-54. [PMID:10611353]
5. Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. (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. Hum Genet, 107 (3): 276-84. [PMID:11071390]
6. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet, 24 (2): 127-31. [PMID:10655056]
7. Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K. (2005) Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology, 112 (12): 2115. [PMID:16225923]
8. Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K. (1999) Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci USA, 96 (9): 4814-9. [PMID:10220376]
9. Peng GH, Ahmad O, Ahmad F, Liu J, Chen S. (2005) 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 (6): 747-64. [PMID:15689355]
2E. Tailless-like receptors: PNR. Last modified on 18/03/2015. Accessed on 17/02/2025. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=616.