Aliases for ACTN2 Gene
External Ids for ACTN2 Gene
Previous GeneCards Identifiers for ACTN2 Gene
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]
GeneCards Summary for ACTN2 Gene
ACTN2 (Actinin Alpha 2) is a Protein Coding gene. Diseases associated with ACTN2 include Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction and Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities. Among its related pathways are RET signaling and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein dimerization activity. An important paralog of this gene is ACTN1.
UniProtKB/Swiss-Prot Summary for ACTN2 Gene
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.