Entrez gene ID | | 88 |
Official gene symbol | | ACTN2 |
Full name | | actinin, alpha 2 |
Aliases | | ,CMD1AA, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q42-q43 |
Gene position | | 236849770 - 236927558 Map Viewer |
Gene orientation | | plus |
Gene size | | 77789 bp |
Gene sequence |
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OMIM ID | | 102573 |
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