Gene: ACTN2

Alternate names for this Gene: CMD1AA|CMH23|MPD6|MYOCOZ

Gene Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43

Description of this Gene: actinin alpha 2

Type of Gene: protein-coding

rs727502886 in ACTN2 gene and Cardiomyopathy, Dilated PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

rs121434525 in ACTN2 gene and Cardiomyopathy, Dilated, 1AA PMID 14567970 2004 Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

PMID 25224718 2014 Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

PMID 25173926 2014 Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

rs727502886 in ACTN2 gene and Hypertrophic Cardiomyopathy PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.