ACTN2 Chromosome 1
Actinin alpha 2
Upload your DNA to see your personal genotypes for variants in ACTN2.
What This Gene Does
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. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Actinins
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000077522
Associated Conditions (27)
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1AA
Cardiovascular phenotype
Myopathy
congenital
with structured cores and z-line abnormalities
distal
6
adult-onset
autosomal dominant
Cardiomyopathy
ACTN2-related disorder
Primary dilated cardiomyopathy
Intrinsic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Tetralogy of Fallot
Hypertrophic cardiomyopathy 1
Congestive heart failure
Hypertrophic cardiomyopathy
familial hypertrophic
+7 more conditions
Key Variants
RS1014042332
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Cardiovascular phenotype
Health Risk
RS1025943151
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1057460296
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
Health Risk
RS1057522840
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Cardiovascular phenotype
Health Risk
RS1057523250
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Myopathy
Health Risk
RS111464645
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS112714025
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS112882610
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1150181
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA, Cardiomyopathy
Health Risk
RS1161843319
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, ACTN2-related disorder
Health Risk
RS1173244523
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1178612038
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113380434 | Health Risk | Likely pathogenic | — |
| RS1553303871 | Health Risk | Likely pathogenic | — |
| RS1572112489 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA |
| RS1572140109 | Health Risk | Likely pathogenic | Myopathy, distal, 6 |
| RS1572148914 | Health Risk | Likely pathogenic | Myopathy, congenital, with structured cores and z-line abnormalities |
| RS2102894883 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA |
| RS2102916915 | Health Risk | Likely pathogenic | Intrinsic cardiomyopathy, Intrinsic cardiomyopathy |
| RS2102919122 | Health Risk | Likely pathogenic | — |
| RS2102927408 | Health Risk | Likely pathogenic | — |
| RS2527534967 | Health Risk | Likely pathogenic | Intrinsic cardiomyopathy, Intrinsic cardiomyopathy |
| RS2527614713 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA |
| RS755492182 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, ACTN2-related cardiac and skeletal myopathy |
| RS786205144 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1AA, Cardiovascular phenotype, Dilated cardiomyopathy 1AA |
| RS763078071 | Health Risk | Pathogenic | — |
| RS786204950 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic, 23 |
| RS786204951 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic, 23 |
| RS794728966 | Health Risk | Pathogenic | — |
| RS1572148902 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, congenital, with structured cores and z-line abnormalities |
| RS727502886 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA |