The 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, MRX1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Cheryl Shoubridge
Total number of public variants reported 183
Unique public DNA variants reported 137
Individuals with public variants 80
Hidden variants 19
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 16, 2023
Version IQSEC2:230416

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 http://www.LOVD.nl/IQSEC2
HGNC 29059
Entrez Gene 23096
PubMed articles IQSEC2
OMIM - Gene 300522
OMIM - Diseases MRX1 (mental retardation, X-linked, type 1)
HGMD IQSEC2
GeneCards IQSEC2
GeneTests IQSEC2
Orphanet IQSEC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023946 X transcript variant 1 NM_001111125.1 NP_001104595.1 183


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