Photoreceptor cell-specific nuclear receptor

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NR2E3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNR2E3, Nr2e3, A930035N01Rik, PNR, RNR, rd7, ESCS, RP37, nuclear receptor subfamily 2 group E member 3
External IDsMGI: 1346317 HomoloGene: 84397 GeneCards: NR2E3
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for NR2E3
Genomic location for NR2E3
Band15q23Start71,792,638 bp[1]
End71,818,259 bp[1]
RNA expression pattern
PBB GE NR2E3 208388 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001281446
NM_014249
NM_016346

NM_013708

RefSeq (protein)

NP_055064
NP_057430

NP_038736

Location (UCSC)Chr 15: 71.79 – 71.82 MbChr 9: 59.94 – 59.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] PNR is a member of the nuclear receptor super family of intracellular transcription factors.

Function[edit]

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.[6]

Clinical significance[edit]

Mutations in the NR2E3 gene have been linked to several inherited retinal diseases, including enhanced S-cone syndrome (ESCS),[7] a form of retinitis pigmentosa,[8] and Goldmann-Favre syndrome.[9]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000278570 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032292 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.
  9. ^ 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[edit]

External links[edit]