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Gene information for ACTN2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID88
Official gene symbolACTN2
Full nameactinin, alpha 2
Aliases,CMD1AA,
Gene summaryAlpha 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. [provided by RefSeq]
LocationChromosome: 1   Locus: 1q42-q43
Gene position236849770 - 236927558  Map Viewer
Gene orientationplus
Gene size77789 bp
Gene sequence
OMIM ID102573