CASQ2

This page contains an overview of the genetic variation in the CASQ2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

CASQ2 gene and transcript details

Gene Name
calsequestrin 2 (cardiac muscle)

Gene Links
Ensembl: ENSG00000118729 - Locus Reference Genomic: LRG_404

Genomic Location
Chromosome 1 : 116,243,862 - 116,311,162 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (1197 bases)	Protein (399 aa)
	ENST00000261448	ENSP00000261448
	LRG_404t1	LRG_404p1
	NM_001232.3
		O14958

Summary of CASQ2 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.01653	0.00508	1.15%
Truncating	0.00826	0.00046	0.78%
Non-Truncating	0.00826	0.00462	0.36%

Based on an analysis of rare variants (MAF<0.0001) in CASQ2 detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of CASQ2 in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.

CASQ2 variants in ExAC

Details of the protein-altering CASQ2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	196	0.00278
Truncating	16	0.00023
Missense	150	0.00222
Inframe	7	0.00009
Splice Site	23	0.00024

Rare variants are defined as having a mean allelic frequency of less than 0.0001.