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]
- MAPK cascade
- Platelet degranulation
- Muscle contraction
- Cell adhesion
- Microspike assembly
- Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction
- Myopathy, congenital, with structured cores and z-line abnormalities
- Myopathy, distal, 6, adult-onset, autosomal dominant
- Familial isolated dilated cardiomyopathy
- Dilated cardiomyopathy
- General Cardiomyopathy
- Hypertrophic Cardiomyopathy
- Dilated Cardiomyopathy
Based on Ayass Bioscience, LLC Data Analysis
ACTN2 Localizations – Subcellular Localization Database
Gene Location
HM-VUS Prevalence
% 0.0510725229826353
Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)
High/Med VUS Variants
T=0.000108(27/250048,GnomAD_exome)
T=0.000207(26/125568,TOPMED)
T=0.000068(8/117738,ExAC)
T=0.00016(5/31406,GnomAD)
T=0.0000(0/3854,ALSPAC)
T=0.0003(1/3708,TWINSUK)
G=0.0000(0/2184,ALFAProject)
T=0.0000(0/2184,dbGaPPopulationFrequencyProject)