DSG2

This page contains an overview of the genetic variation in the DSG2 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:

DSG2 gene and transcript details

Gene Name
desmoglein 2

Gene Links
Ensembl: ENSG00000046604 - Locus Reference Genomic: LRG_397

Genomic Location
Chromosome 18 : 29,078,215 - 29,126,706 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (3354 bases)	Protein (1118 aa)
	ENST00000261590	ENSP00000261590
	LRG_397t1	LRG_397p1
	NM_001943.3
		Q14126

Summary of DSG2 in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail

VarType	ARVC Freq	ExAC Freq	Case Excess
All	0.04802	0.01298	3.50%
Truncating	0.01412	0.00072	1.34%
Non-Truncating	0.03390	0.01226	2.16%

Based on an analysis of rare variants (MAF<0.0001) in DSG2 detected in a cohort of 354 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00703	0.01298	-0.60%
Truncating	0.00000	0.00072	-0.07%
Non-Truncating	0.00703	0.01226	-0.52%

Based on an analysis of rare variants (MAF<0.0001) in DSG2 detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DSG2 variants in ExAC

Details of the protein-altering DSG2 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	455	0.00695
Truncating	24	0.00036
Missense	394	0.00607
Inframe	2	0.00006
Splice Site	35	0.00047

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