NR2E3 gene homepage

This database is one of the "Eye disease" gene variant databases. It was established to group all sequence variant information on NR2E3-linked retinal degenerations, including enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant retinitis pigmentosa (adRP).
General information
Gene symbol NR2E3
Gene name nuclear receptor subfamily 2, group E, member 3
Chromosome 15
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_009113.1
Transcript reference NM_014249.2
Exon/intron information NM_014249.2 exon/intron table
Associated with diseases ESCS, RP-37, RP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Pascal Escher
Total number of public variants reported 255
Unique public DNA variants reported 128
Individuals with public variants 1629
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created May 28, 2009
Date last updated July 24, 2019
Version NR2E3:190724

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014249.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NR2E3
External URL Orphanet
HGNC 7974
Entrez Gene 10002
PubMed articles NR2E3
OMIM - Gene 604485
OMIM - Diseases ESCS (S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome))
RP-37 (retinitis pigmentosa, type 37 (RP-37))
RP (RCD)
HGMD NR2E3
GeneCards NR2E3
GeneTests NR2E3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014782 15 transcript variant 2 NM_014249.2 NP_055064.1 255


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.