IQSEC2 gene homepage

General information
Gene symbol IQSEC2
Gene name IQ motif and Sec7 domain 2
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_021296.1
Transcript reference NM_001111125.1
Exon/intron information NM_001111125.1 exon/intron table
Associated with diseases ID, MRX-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Cheryl Shoubridge
Total number of public variants reported 84
Unique public DNA variants reported 69
Individuals with public variants 41
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated April 19, 2019
Version IQSEC2:190419

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_001111125.1.
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
External URL Orphanet
HGNC 29059
Entrez Gene 23096
PubMed articles IQSEC2
OMIM - Gene 300522
OMIM - Diseases MRX-1 (mental retardation, X-linked, type 1 (MRX-1))
GeneCards IQSEC2
GeneTests IQSEC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00023946 X transcript variant 1 NM_001111125.1 NP_001104595.1 84

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.