NP_001094.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
103,920 Da
NCBI Official Full Name
alpha-actinin-2 isoform 1
NCBI Official Synonym Full Names
actinin, alpha 2
NCBI Official Synonym Symbols
NCBI Protein Information
alpha-actinin-2; F-actin cross-linking protein; alpha-actinin skeletal muscle
UniProt Protein Name
Alpha-actinin-2
UniProt Synonym Protein Names
Alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein
UniProt Entry Name
ACTN2_HUMAN
NCBI Summary for 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. [provided by RefSeq, May 2013]
UniProt Comments for ACTN2
ACTN2: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the alpha-actinin family.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q42-q43
Cellular Component: cortical actin cytoskeleton; cytoskeleton; focal adhesion; dendritic spine; extracellular region; actin filament; pseudopodium; cytosol; Z disc; filopodium
Molecular Function: integrin binding; protein dimerization activity; actin filament binding; identical protein binding; protein binding; LIM domain binding; structural constituent of muscle; cytoskeletal protein binding; titin binding; calcium ion binding; FATZ binding; thyroid hormone receptor coactivator activity
Biological Process: focal adhesion formation; platelet activation; negative regulation of potassium ion transport; positive regulation of potassium ion transport; protein homotetramerization; muscle filament sliding; regulation of apoptosis; synaptic transmission; regulation of membrane potential; platelet degranulation; microspike biogenesis; blood coagulation; cell adhesion
Disease: Cardiomyopathy, Dilated, 1aa
Research Articles on ACTN2
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Products associated with ACTN2 elisa kit
Pathways associated with ACTN2 elisa kit
Diseases associated with ACTN2 elisa kit
Organs/Tissues associated with ACTN2 elisa kit
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