Actinin, alpha 2

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Alpha-actinin 2 is a protein which in humans is encoded by the ACTN2 gene.[1] This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to Z-discs.

Structure

Alpha-actinin 2 is a 103.8 kDa protein composed of 894 amino acids.[2][3] Each molecule is rod-shaped (35 nm in length) and it homodimerizes in an anti-parallel fashion. Each monomer has an N-terminal actin-binding region composed of two calponin homology domains, two C-terminal EF hand domains, and four tandem spectrin-like repeats form the rod domain in the central region of the molecule.[4] The high-resolution crystal structure of human alpha-actinin 2 at 3.5 Å was recently resolved.[5] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of actin-binding cytoskeletal proteins, including spectrin, dystrophin, utrophin and fimbrin.[4] Skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. Alpha-actinin 2 has been shown to interact with KCNA5,[6][7] DLG1,[6] DISC1,[8] MYOZ1,[9] GRIN2B,[10] ADAM12,[11] ACTN3,[12] MYPN,[13] PDLIM3,[14] PKN,[15] MYOT,[16] TTN,[17] NMDAR,[18] SYNPO2,[19] LDB3,[20] and FATZ.[21]

Function

The primary function of alpha-actinin 2 is to crosslink filamentous actin molecules and titin molecules from adjoining sarcomeres at Z-discs, a function that is modulated by phospholipids.[22][23] It is clear from studies by Hampton et al. that this crosslinking can assume a variety of conformations, with preferences for 60° and 120° angles.[24] Alpha-actinin 2 also functions in docking signalling molecules at Z-discs, and additional studies have also implicated alpha-actinin 2 in the binding of cardiac ion channels, Kv1.5 in particular.[6]

Clinical significance

Mutations in ACTN2 are associated with hypertrophic cardiomyopathy,[25] as well as dilated cardiomyopathy and endocardial fibroelastosis.[26] The diverse functions of alpha-actinin 2 are reflected in the diverse clinical presentation of patients carrying ACTN2 mutations.[27]

References

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Further reading

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External links


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