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 Lvnc and Actn2-Related Dilated Cardiomyopathy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and RET signaling. 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 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.