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


RefSeq Accession Definition Services Price Order
NM_014249 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. ORF Sequence $357.57
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RefSeq Version NM_014249.2, 30581147
Length 1999 bp
Structure linear
Update Date 14-APR-2013
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' UTR and coding region, compared to variant 1. The resulting isoform (b) contains a longer C-terminus compared to isoform a.

RefSeq NP_055064.1
CDS 191..1423
Misc Feature(1)185..187
Misc Feature(2)305..580
Misc Feature(3)305..580
Misc Feature(4)order(329..331,338..340,380..382,389..391,437..439,
Misc Feature(5)order(359..367,383..388,392..394,398..400,407..409,
Misc Feature(6)764..1381
Misc Feature(7)order(845..850,860..862,962..964,974..976,983..985,
Misc Feature(8)order(875..877,884..886,896..898,911..913,926..931,
Misc Feature(9)1187..1189
Exon (1)1..308
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (2)309..435
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (3)436..539
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (4)540..761
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (5)762..937
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (6)938..1184
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (7)1185..1290
Gene:NR2E3
Gene Synonym:ESCS; PNR; rd7; RNR; RP37
Exon (8)1291..1998
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
9+dbSNP:
9+c, tdbSNP:144605823
52+a, gdbSNP:138513681
245+c, gdbSNP:4496086
246+c, gdbSNP:4442764
321+dbSNP:
321+c, tdbSNP:202098481
356+a, gdbSNP:121912631
395+a, gdbSNP:200102936
416+c, tdbSNP:104894492
417+a, gdbSNP:104894493
420+a, gdbSNP:186714117
523+dbSNP:
523+a, g, tdbSNP:900546
551+dbSNP:
551+a, gdbSNP:146403122
609+a, gdbSNP:1805020
678+c, tdbSNP:1805021
695+c, tdbSNP:1805022
785+dbSNP:
785+a, gdbSNP:201347199
792..793+, cdbSNP:35568744
827+c, tdbSNP:76502381
884+a, gdbSNP:1805023
981+dbSNP:
981+a, gdbSNP:201106600
1072+a, gdbSNP:1805024
1090+a, gdbSNP:184906734
1094+a, gdbSNP:1805025
1122+a, gdbSNP:28937873
1142+g, tdbSNP:201606159
1156+c, tdbSNP:148900690
1195+dbSNP:
1195+a, cdbSNP:142621527
1213+c, tdbSNP:200402349
1285+c, tdbSNP:35004053
1286+a, gdbSNP:150971548
1385+dbSNP:
1385+a, cdbSNP:199564404
1512+c, tdbSNP:182387227
1514+c, tdbSNP:184461716
1519+a, gdbSNP:189389563
1571+c, gdbSNP:181328142
1648+, adbSNP:34114830
1654+a, gdbSNP:185349250
1784..1786+, aatdbSNP:199704918
1784+, aatdbSNP:72169268
1785..1787+, tatdbSNP:71131709
1802+a, gdbSNP:28451480
1839+a, gdbSNP:147491172
1841+a, gdbSNP:190504253
1988+a, cdbSNP:76637957
1989+a, cdbSNP:76978830
1990+a, cdbSNP:71395043
Gene SymbolNR2E3
Gene SynonymESCS; PNR; rd7; RNR; RP37
Chromosome15
Locus Map15q22.32
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_014249 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA. Full Length $579.71
ORF Sequence $357.57
NM_016346 Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 1, mRNA. Full Length $609.58
ORF Sequence $320.16
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 Reconstruction of nuclear receptor network reveals that NR2E3 is a novel upstream regulator of ESR1 in breast cancer .
Author Park,Y.Y., Kim,K., Kim,S.B., Hennessy,B.T., Kim,S.M., Park,E.S., Lim,J.Y., Li,J., Lu,Y., Gonzalez-Angulo,A.M., Jeong,W., Mills,G.B., Safe,S. and Lee,J.S.
Journal EMBO Mol Med 4 (1), 52-67 (2012)
Title Orphan nuclear receptor PNR/NR2E3 stimulates p53 functions by enhancing p53 acetylation .
Author Wen,Z., Pyeon,D., Wang,Y., Lambert,P., Xu,W. and Ahlquist,P.
Journal Mol. Cell. Biol. 32 (1), 26-35 (2012)
Title Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa .
Author Escher,P., Tran,H.V., Vaclavik,V., Borruat,F.X., Schorderet,D.F. and Munier,F.L.
Journal Invest. Ophthalmol. Vis. Sci. 53 (8), 4754-4764 (2012)
Title Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa .
Author Kannabiran,C., Singh,H., Sahini,N., Jalali,S. and Mohan,G.
Journal Mol. Vis. 18, 1165-1174 (2012)
Title The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition .
Author Gerber,S., Rozet,J.M., Takezawa,S.I., dos Santos,L.C., Lopes,L., Gribouval,O., Penet,C., Perrault,I., Ducroq,D., Souied,E., Jeanpierre,M., Romana,S., Frezal,J., Ferraz,F., Yu-Umesono,R., Munnich,A. and Kaplan,J.
Journal Hum. Genet. 107 (3), 276-284 (2000)
Title Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate .
Author 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. and Sheffield,V.C.
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,N.D., 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,D.J., Marmorstein,A.D., Zhang,Q., Petrukhin,K., Caskey,C.T. and Austin,C.P.
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,R.T., Umesono,Y., Agata,K., Taniwaki,M., Yasuda,K. and Umesono,K.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (9), 4814-4819 (1999)

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