Endogenous

ACTN2/ACTN3

Alpha-actinin-2

ACTN2 ;
Alpha-actinin-2 ;
Alpha-actinin skeletal muscle isoform 2 ;
F-actin cross-linking protein

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],

Disease:Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,Function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,similarity:Belongs to the alpha-actinin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 2 EF-hand domains.,similarity:Contains 4 spectrin repeats.,subcellular location:Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.,subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2.,tissue specificity:Expressed in both skeletal and cardiac muscle.,

Cytoplasm, myofibril, sarcomere, Z line . Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.

Expressed in both skeletal and cardiac muscle.

>>Arrhythmogenic right ventricular cardiomyopathy