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

Emw. Structure of the ACTN2 protein. Based on PyMOL rendering of PDB 1h8b.

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