MYOZ2

This page contains an overview of the genetic variation in the MYOZ2 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:

MYOZ2 gene and transcript details

Gene Name
myozenin 2

Gene Links
Ensembl: ENSG00000172399 - Locus Reference Genomic: LRG_396

Genomic Location
Chromosome 4 : 120,057,681 - 120,107,355 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (792 bases)	Protein (264 aa)
	ENST00000307128	ENSP00000306997
	LRG_396t1	LRG_396p1
	NM_016599.4
		Q9NPC6

Summary of MYOZ2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of MYOZ2 in HCM (see study in the European Heart Journal), it is classified as: Moderate Evidence.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00256	-0.26%
Truncating	0.00020	-0.02%
Non-Truncating	0.00236	-0.24%

Based on an analysis of rare variants (MAF<0.0001) in MYOZ2 detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

MYOZ2 variants in ExAC

Details of the protein-altering MYOZ2 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	92	0.00141
Truncating	6	0.00010
Missense	78	0.00118
Inframe	0	0.00000
Splice Site	8	0.00013

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