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Gene Review

NR2E3  -  nuclear receptor subfamily 2, group E,...

Homo sapiens

Synonyms: ESCS, Nuclear receptor subfamily 2 group E member 3, PNR, Photoreceptor-specific nuclear receptor, RNR, ...
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Disease relevance of NR2E3


Psychiatry related information on NR2E3

  • A joint factor analysis of the ESCS and the NEO Personality Inventory (NEO-PI) scales led to a 5-factor solution, where all the factors that emerged were identified as the Big Five personality dimensions, the ESCS subscales loading most significantly on 3 of these factors: Neuroticism (N), Extraversion (E), and Openness to Experience (O) [6].

High impact information on NR2E3


Chemical compound and disease context of NR2E3


Biological context of NR2E3


Anatomical context of NR2E3

  • NR2E3, a photoreceptor-specific orphan nuclear receptor, is believed to play a pivotal role in the differentiation of photoreceptors [1].
  • The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer [16].
  • Our studies suggest that, based on its temporal and spatial expression, NR2E3 acts simultaneously in different cell types: in late mitotic progenitors, newly differentiating post mitotic cells, and mature rods and cones [17].
  • NR2E3 mRNA was detected in the adrenal gland, thyroid gland, prostate, testis, uterus, trachea, and salivary gland [18].
  • It examines the relationship between the effectiveness of epidural spinal cord stimulation (ESCS) and diseases or sites of pain [19].

Associations of NR2E3 with chemical compounds

  • The interaction of NR2E3 with NR1D1 was confirmed by glutathione S-transferase pulldown and co-immunoprecipitation experiments [1].
  • The frequency of triplets decays in the order RNY greater than RNR greater than YNY greater than YNR; R being a purine (guanine or adenine), Y is a pyrimidine (cytosine or uracil), and N is any base [20].
  • An oligodeoxynucleotide phosphorothioate that is complementary to sequences around the translational initiation codon of the small RNR subunit showed significant inhibition of growth, as measured by the inhibition in DNA synthesis [11].
  • In this report, we examined the mode of nitrite reductase (PNR) release from a serum-sensitive strain of live P. aeruginosa cells during in vitro treatment with four different antimicrobial agents or human complement [21].
  • Among these agents, imipenem demonstrated rapid killing of P. aeruginosa as well as rapid release of PNR and resulted in the highest IL-8 production [21].

Other interactions of NR2E3

  • RESULTS: NR2E3 expression was detected shortly after the appearance of NRL in putative immature rods on the foveal edge at Fwk 11 [22].
  • Gene profiling of FACS-purified photoreceptors confirmed the role of NR2E3 as a strong suppressor of cone genes but an activator of only a subset of rod genes (including rhodopsin) in vivo [23].
  • NRL, CRX and NR2E3 are key transcriptional regulators that control photoreceptor differentiation [23].
  • The CPRD patients without NR2E3 mutations had no detected mutations in NRL or THRB1 [2].
  • Mutation screening of the NR2E3 gene, which encodes a photoreceptor-specific orphan nuclear receptor, was performed with polymerase chain reaction amplification and direct sequencing [24].

Analytical, diagnostic and therapeutic context of NR2E3

  • In order to gain insights into the NR2E3 function, we performed temporal and spatial expression analysis, yeast two-hybrid screening, promoter activity assays and co-immunoprecipitation studies [1].
  • METHODS: Expression of NR2E3, a photoreceptor-specific orphan nuclear receptor, was examined in human retinas between fetal weeks (Fwk) 9 to 22 by reverse transcription-polymerase chain reaction (RT-PCR) and in situ hybridization [22].
  • Both NR2E3 and NRL expression patterns were followed by immunocytochemistry [22].
  • Northern blot and reverse transcription-PCR analyses of human mRNA samples demonstrate that RNR is expressed exclusively in the retina, with transcripts of approximately 7.5 kb, approximately 3.0 kb, and approximately 2.3 kb by Northern blot analysis [10].
  • Mutation screening of the NR2E3 gene was performed with polymerase chain reaction (PCR) amplification and direct sequencing [25].


  1. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Cheng, H., Khanna, H., Oh, E.C., Hicks, D., Mitton, K.P., Swaroop, A. Hum. Mol. Genet. (2004) [Pubmed]
  2. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Sharon, D., Sandberg, M.A., Caruso, R.C., Berson, E.L., Dryja, T.P. Arch. Ophthalmol. (2003) [Pubmed]
  3. Identification of a photoreceptor cell-specific nuclear receptor. Kobayashi, M., Takezawa, S., Hara, K., Yu, R.T., Umesono, Y., Agata, K., Taniwaki, M., Yasuda, K., Umesono, K. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  4. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Haider, N.B., Naggert, J.K., Nishina, P.M. Hum. Mol. Genet. (2001) [Pubmed]
  5. Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. Chen, J., Rattner, A., Nathans, J. Hum. Mol. Genet. (2006) [Pubmed]
  6. The Estonian Self-Consciousness Scale and its relation to the five-factor model of personality. Realo, A., Allik, J. Journal of personality assessment. (1998) [Pubmed]
  7. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Haider, N.B., Jacobson, S.G., Cideciyan, A.V., Swiderski, R., Streb, L.M., Searby, C., Beck, G., Hockey, R., Hanna, D.B., Gorman, S., Duhl, D., Carmi, R., Bennett, J., Weleber, R.G., Fishman, G.A., Wright, A.F., Stone, E.M., Sheffield, V.C. Nat. Genet. (2000) [Pubmed]
  8. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Milam, A.H., Rose, L., Cideciyan, A.V., Barakat, M.R., Tang, W.X., Gupta, N., Aleman, T.S., Wright, A.F., Stone, E.M., Sheffield, V.C., Jacobson, S.G. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  9. Trace amines: identification of a family of mammalian G protein-coupled receptors. Borowsky, B., Adham, N., Jones, K.A., Raddatz, R., Artymyshyn, R., Ogozalek, K.L., Durkin, M.M., Lakhlani, P.P., Bonini, J.A., Pathirana, S., Boyle, N., Pu, X., Kouranova, E., Lichtblau, H., Ochoa, F.Y., Branchek, T.A., Gerald, C. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  10. Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells. Chen, F., Figueroa, D.J., Marmorstein, A.D., Zhang, Q., Petrukhin, K., Caskey, C.T., Austin, C.P. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  11. Cloning and characterization of subunit genes of ribonucleotide reductase, a cell-cycle-regulated enzyme, from Plasmodium falciparum. Chakrabarti, D., Schuster, S.M., Chakrabarti, R. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  12. Enantioselectivity of ribonucleotide reductase: a first study using stereoisomers of pyrimidine 2'-azido-2'-deoxynucleosides. Roy, B., Verri, A., Lossani, A., Spadari, S., Focher, F., Aubertin, A.M., Gosselin, G., Mathé, C., Périgaud, C. Biochem. Pharmacol. (2004) [Pubmed]
  13. Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23. Rendtorff, N.D., Vissing, H., Tümer, Z., Silahtaroglu, A., Tommerup, N. Cytogenet. Cell Genet. (2000) [Pubmed]
  14. A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q. Wang, D.Y., Fan, B.J., Chua, J.K., Tam, P.O., Leung, C.K., Lam, D.S., Pang, C.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  15. Gene expression profile of the adult human retinal ganglion cell layer. Kim, C.Y., Kuehn, M.H., Clark, A.F., Kwon, Y.H. Mol. Vis. (2006) [Pubmed]
  16. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Wright, A.F., Reddick, A.C., Schwartz, S.B., Ferguson, J.S., Aleman, T.S., Kellner, U., Jurklies, B., Schuster, A., Zrenner, E., Wissinger, B., Lennon, A., Shu, X., Cideciyan, A.V., Stone, E.M., Jacobson, S.G., Swaroop, A. Hum. Mutat. (2004) [Pubmed]
  17. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Haider, N.B., Demarco, P., Nystuen, A.M., Huang, X., Smith, R.S., McCall, M.A., Naggert, J.K., Nishina, P.M. Vis. Neurosci. (2006) [Pubmed]
  18. Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies. Nishimura, M., Naito, S., Yokoi, T. Drug Metab. Pharmacokinet. (2004) [Pubmed]
  19. Management of intractable pain with percutaneous epidural spinal cord stimulation: differences in pain-relieving effects among diseases and sites of pain. Shimoji, K., Hokari, T., Kano, T., Tomita, M., Kimura, R., Watanabe, S., Endoh, H., Fukuda, S., Fujiwara, N., Aida, S. Anesth. Analg. (1993) [Pubmed]
  20. Pattern analysis of 5S rRNA. Eigen, M., Lindemann, B., Winkler-Oswatitsch, R., Clarke, C.H. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  21. Nitrite reductase from Pseudomonas aeruginosa released by antimicrobial agents and complement induces interleukin-8 production in bronchial epithelial cells. Sar, B., Oishi, K., Wada, A., Hirayama, T., Matsushima, K., Nagatake, T. Antimicrob. Agents Chemother. (1999) [Pubmed]
  22. Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Bumsted O'Brien, K.M., Cheng, H., Jiang, Y., Schulte, D., Swaroop, A., Hendrickson, A.E. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  23. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Cheng, H., Aleman, T.S., Cideciyan, A.V., Khanna, R., Jacobson, S.G., Swaroop, A. Hum. Mol. Genet. (2006) [Pubmed]
  24. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Hayashi, T., Gekka, T., Goto-Omoto, S., Takeuchi, T., Kubo, A., Kitahara, K. Ophthalmology (2005) [Pubmed]
  25. Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). Nakamura, Y., Hayashi, T., Kozaki, K., Kubo, A., Omoto, S., Watanabe, A., Toda, K., Takeuchi, T., Gekka, T., Kitahara, K. Acta ophthalmologica Scandinavica. (2004) [Pubmed]
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