EIF2S3 gene homepage

General information
Gene symbol EIF2S3
Gene name eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
Chromosome X
Chromosomal band p22.2-p22.1
Imprinted Unknown
Genomic reference NG_016387.1
Transcript reference NM_001415.3
Exon/intron information NM_001415.3 exon/intron table
Associated with diseases MEHMO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 24
Unique public DNA variants reported 14
Individuals with public variants 135
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version EIF2S3:180730

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_001415.3.
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/EIF2S3
External URL Orphanet
HGNC 3267
Entrez Gene 1968
PubMed articles EIF2S3
OMIM - Gene 300161
OMIM - Diseases MEHMO (MRXS-20)
HGMD EIF2S3
GeneCards EIF2S3
GeneTests EIF2S3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000764 X eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa NM_001415.3 NP_001406.1 24


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 © 2009-2018. 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.