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Database:

Blast Method:

 
 


Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_014249 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

Related Services

RefSeq Version NM_014249.3, 527122106
Length 2004 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.
Product photoreceptor-specific nuclear receptor isoform b
Comment

Summary: This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) contains a longer C-terminus compared to isoform a.

RefSeq NP_055064.1
CDS 197..1429
Misc Feature(1)191..193
Misc Feature(2)311..586
Misc Feature(3)311..586
Misc Feature(4)order(335..337,344..346,386..388,395..397,443..445,
Misc Feature(5)order(365..373,389..394,398..400,404..406,413..415,
Misc Feature(6)770..1387
Misc Feature(7)order(851..856,866..868,968..970,980..982,989..991,
Misc Feature(8)order(881..883,890..892,902..904,917..919,932..937,
Misc Feature(9)1193..1195
Exon (1)1..314
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (2)315..441
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (3)442..545
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (4)546..767
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (5)768..943
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (6)944..1190
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (7)1191..1296
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (8)1297..2004
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Translation METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYG IYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQN ERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITA ETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNLPV FSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMET RVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAH HPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN
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Position Chain Variation Link
15+dbSNP:
15+c, tdbSNP:144605823
complement(58)-g, adbSNP:138513681
148+c, tdbSNP:369166086
168+a, gdbSNP:370524688
181+a, gdbSNP:369493844
222+g, tdbSNP:374232020
251+c, gdbSNP:4496086
252+c, gdbSNP:4442764
272+a, cdbSNP:373237215
284+c, gdbSNP:371396941
290+g, tdbSNP:377300789
316+dbSNP:
316+c, tdbSNP:368095184
317+a, gdbSNP:370679503
327+c, tdbSNP:202098481
329+c, tdbSNP:368627488
339+a, gdbSNP:372156526
346+c, tdbSNP:376753500
362+a, gdbSNP:121912631
391+c, tdbSNP:367603365
401+a, gdbSNP:200102936
422+c, tdbSNP:104894492
423+a, gdbSNP:104894493
426+a, gdbSNP:186714117
451+dbSNP:
451+a, gdbSNP:374027410
529+a, g, tdbSNP:900546
544+c, tdbSNP:374499278
557+dbSNP:
557+a, gdbSNP:146403122
561+a, gdbSNP:376678128
609+a, gdbSNP:367838359
615+a, gdbSNP:1805020
651+c, tdbSNP:371853056
659+c, tdbSNP:376858072
668+c, tdbSNP:369486706
684+c, tdbSNP:1805021
701+c, tdbSNP:1805022
791+dbSNP:
791+a, gdbSNP:201347199
798..799+, cdbSNP:35568744
833+c, tdbSNP:76502381
836+c, tdbSNP:371694743
841+c, tdbSNP:375133059
842+a, gdbSNP:368098126
860+a, gdbSNP:371945959
889+c, tdbSNP:376605943
890+a, gdbSNP:1805023
895+a, gdbSNP:369817803
937+c, gdbSNP:375470824
963+dbSNP:
963+a, cdbSNP:377257254
966+a, gdbSNP:370823298
987+a, gdbSNP:201106600
1009+c, tdbSNP:377743925
1040+a, gdbSNP:370215891
1068+a, gdbSNP:374975658
1070+c, tdbSNP:368030775
1078+a, g, tdbSNP:1805024
1095+c, tdbSNP:374016332
1096+a, gdbSNP:184906734
1098+a, gdbSNP:375364175
1100+a, gdbSNP:1805025
1115+a, cdbSNP:375975199
1128+a, gdbSNP:28937873
1131+c, gdbSNP:373235046
1138+a, gdbSNP:375304296
complement(1147)-, gdbSNP:398027866
1148+g, tdbSNP:201606159
complement(1162)-t, cdbSNP:148900690
1196+dbSNP:
1196+c, tdbSNP:371402963
1197+a, gdbSNP:374483122
1201+a, cdbSNP:142621527
1219+c, tdbSNP:200402349
1291+c, tdbSNP:35004053
complement(1292)-g, adbSNP:150971548
1337+dbSNP:
1337+a, gdbSNP:367585968
1345+a, gdbSNP:371462976
1348+a, gdbSNP:376046141
1391+a, cdbSNP:199564404
1394+a, gdbSNP:369323987
1428+a, gdbSNP:374121651
1429+a, gdbSNP:377154860
1462+g, tdbSNP:369611634
1518+c, tdbSNP:182387227
1520+c, tdbSNP:184461716
1525+a, gdbSNP:189389563
1577+c, gdbSNP:181328142
1654+, adbSNP:34114830
1660+a, gdbSNP:185349250
1691+a, gdbSNP:373683259
1790..1792+, aatdbSNP:199704918
complement(1794..1796)-, tatdbSNP:71131709
1808+a, gdbSNP:28451480
1845+a, gdbSNP:147491172
1847+a, gdbSNP:190504253
1974..1975+, adbSNP:369467965
1975+a, tdbSNP:376195026
1994+a, cdbSNP:76637957
1995+a, cdbSNP:76978830
1996+a, cdbSNP:71395043
Gene SymbolNR2E3
Gene SynonymESCS; PNR; rd7; RNR; RP37
Chromosome15
Locus Map15q23
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_014249 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. On-demand TBD TBD
NM_016346 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 1, mRNA. On-demand TBD TBD
Title Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid .
Author Luykx JJ, Bakker SC, Lentjes E, Neeleman M, Strengman E, Mentink L, DeYoung J, de Jong S, Sul JH, Eskin E, van Eijk K, van Setten J, Buizer-Voskamp JE, Cantor RM, Lu A, van Amerongen M, van Dongen EP, Keijzers P, Kappen T, Borgdorff P, Bruins P, Derks EM, Kahn RS and Ophoff RA.
Journal Mol. Psychiatry 19 (2), 228-234 (2014)
Title A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors .
Author Chan CM, Fulton J, Montiel-Duarte C, Collins HM, Bharti N, Wadelin FR, Moran PM, Mongan NP and Heery DM.
Journal Nucleic Acids Res. 41 (21), 9663-9679 (2013)
Title Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults .
Author Park SP, Hong IH, Tsang SH, Lee W, Horowitz J, Yzer S, Allikmets R and Chang S.
Journal Graefes Arch. Clin. Exp. Ophthalmol. 251 (10), 2299-2309 (2013)
Title Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations .
Author Cassiman C, Spileers W, De Baere E, de Ravel T and Casteels I.
Journal Ophthalmic Genet. 34 (1-2), 105-108 (2013)
Title Novel mutations in enhanced S-cone syndrome .
Author Kuniyoshi K, Hayashi T, Sakuramoto H, Nakao A, Sato T, Utsumi T, Tsuneoka H and Shimomura Y.
Journal Ophthalmology 120 (2), 431 (2013)
Title Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate .
Author 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 and Sheffield VC.
Journal Nat. Genet. 24 (2), 127-131 (2000)
Title Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23 .
Author Rendtorff ND, Vissing H, Tumer Z, Silahtaroglu A and Tommerup N.
Journal Cytogenet. Cell Genet. 89 (3-4), 279-280 (2000)
Title Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells .
Author Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (26), 15149-15154 (1999)
Title Identification of a photoreceptor cell-specific nuclear receptor .
Author Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K and Umesono K.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (9), 4814-4819 (1999)
Title Retinitis Pigmentosa Overview .
Author Fahim,A.T., Daiger,S.P. and Weleber,R.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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