Photoreceptor cell-specific nuclear receptor


Photoreceptor cell-specific nuclear receptor
Nuclear receptor subfamily 2, group E, member 3
Identifiers
Symbols NR2E3; ESCS; MGC49976; PNR; RNR; RP37; rd7
External IDs OMIM604485 MGI1346317 HomoloGene84397 IUPHAR: NR2E3 GeneCards: NR2E3 Gene
RNA expression pattern
PBB GE NR2E3 208388 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10002 23958
Ensembl ENSG00000031544 ENSMUSG00000032292
UniProt Q9Y5X4 Q543C7
RefSeq (mRNA) NM_014249.2 NM_013708.4
RefSeq (protein) NP_055064.1 NP_038736.1
Location (UCSC) Chr 15:
72.08 – 72.11 Mb
Chr 9:
59.79 – 59.81 Mb
PubMed search [1] [2]

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.

Contents

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 (1999). "Identification of a photoreceptor cell-specific nuclear receptor". Proc. Natl. Acad. Sci. U.S.A. 96 (9): 4814–9. doi:10.1073/pnas.96.9.4814. PMC 21774. PMID 10220376. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21774. 
  2. ^ Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=117584. 
  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 (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. 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 (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. doi:10.1007/s004390000350. PMID 11071390. 
  5. ^ 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". The British journal of ophthalmology 89 (8): 1065–6. doi:10.1136/bjo.2005.068130. PMC 1772771. PMID 16024868. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1772771. 

Further reading

External links


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