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ACTN2

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (BJ hTERT+ SV40 Large T+ RasG12V, HEK93, HSkMC, hTEC/SVTERT24-B)

Interaction

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. Interacts with DST isoform 1 (via N-terminus). Interacts with PARVB. Interacts with SYNPO2.

Molecular function

Actin-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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