Photoreceptor cell-specific nuclear receptor

Nuclear receptor subfamily 2, group E, member 3
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4LOG​
Identifiers
Symbols	NR2E3 ; ESCS; PNR; RNR; RP37; rd7
External IDs	OMIM: 604485 MGI: 1346317 HomoloGene: 84397 IUPHAR: 616 ChEMBL: 4374 GeneCards: NR2E3 Gene
Gene ontology Molecular function • steroid hormone receptor activity • RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding • protein binding • zinc ion binding • sequence-specific DNA binding Cellular component • nucleus • nucleoplasm • transcription factor complex Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • transcription initiation from RNA polymerase II promoter • signal transduction • visual perception • phototransduction • negative regulation of cell proliferation • gene expression • intracellular receptor signaling pathway • eye photoreceptor cell development • steroid hormone mediated signaling pathway • positive regulation of rhodopsin gene expression • positive regulation of transcription from RNA polymerase II promoter • retina development in camera-type eye Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10002	23958
Ensembl	ENSG00000278570	ENSMUSG00000032292
UniProt	Q9Y5X4	Q9QXZ7
RefSeq (mRNA)	NM_001281446	NM_013708
RefSeq (protein)	NP_055064	NP_038736
Location (UCSC)	Chr 15: 71.79 – 71.82 Mb	Chr 9: 59.94 – 59.96 Mb
PubMed search

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a protein that in humans is encoded by the NR2E3 gene.^[1] PNR is a member of the nuclear receptor super family of intracellular transcription factors.

Function

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.^[2]

Clinical significance

Mutations in the NR2E3 gene have been linked to several inherited retinal diseases, including enhanced S-cone syndrome (ESCS),^[3] a form of retinitis pigmentosa,^[4] and Goldmann-Favre syndrome.^[5]

References

1. Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K (Apr 1999). "Identification of a photoreceptor cell-specific nuclear receptor". Proceedings of the National Academy of Sciences of the United States of America 96 (9): 4814–9. doi:10.1073/pnas.96.9.4814. PMC 21774. PMID 10220376.
2. Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (Jan 2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proceedings of the National Academy of Sciences of the United States of America 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633.
3. 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 (Feb 2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nature Genetics 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.
4. 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 (Sep 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". Human Genetics 107 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.
5. Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI (Aug 2005). "An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome". The British Journal of Ophthalmology 89 (8): 1065–6. doi:10.1136/bjo.2005.068130. PMC 1772771. PMID 16024868.

Further reading

• Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey CT, Austin CP (Dec 1999). "Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells". Proceedings of the National Academy of Sciences of the United States of America 96 (26): 15149–54. doi:10.1073/pnas.96.26.15149. PMC 24788. PMID 10611353.
• 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 (Feb 2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nature Genetics 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.
• Rendtorff ND, Vissing H, Tümer Z, Silahtaroglu A, Tommerup N (2000). "Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23". Cytogenetics and Cell Genetics 89 (3-4): 279–80. doi:10.1159/000015635. PMID 10965145.
• 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 (Sep 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". Human Genetics 107 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.
• Haider NB, Naggert JK, Nishina PM (Aug 2001). "Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice". Human Molecular Genetics 10 (16): 1619–26. doi:10.1093/hmg/10.16.1619. PMID 11487564.
• Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (Jan 2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proceedings of the National Academy of Sciences of the United States of America 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633.
• Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP (Sep 2003). "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration". Archives of Ophthalmology 121 (9): 1316–23. doi:10.1001/archopht.121.9.1316. PMID 12963616.
• Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A (Aug 2004). "Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors". Human Molecular Genetics 13 (15): 1563–75. doi:10.1093/hmg/ddh173. PMID 15190009.
• Bumsted O'Brien KM, Cheng H, Jiang Y, Schulte D, Swaroop A, Hendrickson AE (Aug 2004). "Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina". Investigative Ophthalmology & Visual Science 45 (8): 2807–12. doi:10.1167/iovs.03-1317. PMID 15277507.
• Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A (Nov 2004). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Human Mutation 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973.
• Chen J, Rattner A, Nathans J (Jan 2005). "The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes". The Journal of Neuroscience 25 (1): 118–29. doi:10.1523/JNEUROSCI.3571-04.2005. PMID 15634773.
• Peng GH, Ahmad O, Ahmad F, Liu J, Chen S (Mar 2005). "The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes". Human Molecular Genetics 14 (6): 747–64. doi:10.1093/hmg/ddi070. PMID 15689355.
• Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K (Dec 2005). "Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity". Ophthalmology 112 (12): 2115. doi:10.1016/j.ophtha.2005.07.002. PMID 16225923.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E (Jul 2007). "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa". American Journal of Human Genetics 81 (1): 147–57. doi:10.1086/518426. PMC 1950922. PMID 17564971.

External links

• NR2E3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• NR2E3 human gene location in the UCSC Genome Browser.
• NR2E3 human gene details in the UCSC Genome Browser.