CASQ2 gene homepage

General information
Gene symbol CASQ2
Gene name calsequestrin 2 (cardiac muscle)
Chromosome 1
Chromosomal band p13.1
Imprinted Unknown
Genomic reference LRG_404
Transcript reference NM_001232.3
Exon/intron information NM_001232.3 exon/intron table
Associated with diseases CPVT-1, CPVT-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) GVsharedLOVD, with Curator vacancy
Total number of public variants reported 182
Unique public DNA variants reported 123
Individuals with public variants 181
Hidden variants 2
Date created May 03, 2013
Date last updated June 24, 2020
Version CASQ2:200624

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_001232.3.
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
HGNC 1513
Entrez Gene 845
PubMed articles CASQ2
OMIM - Gene 114251
OMIM - Diseases CPVT-1 (tachycardia, ventricular, catecholaminergic polymorphic, type 1 (CPVT-1))
CPVT-2 (tachycardia, ventricular, catecholaminergic polymorphic, type 2)
GeneCards CASQ2
GeneTests CASQ2

Active transcripts




NCBI ID     

NCBI Protein ID     

00004392 1 calsequestrin 2 (cardiac muscle) NM_001232.3 NP_001223.2 182

Copyright & disclaimer
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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.