actinin, alpha 3


ACTN3 (may also be known as: None)




This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]


Actn Drosophila melanogaster
actn3a Danio rerio
Actn3 Mus musculus
Actn3 Rattus norvegicus
ain1 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0030049 muscle filament sliding biological_process
GO:0042981 regulation of apoptotic process biological_process
GO:0048041 focal adhesion assembly biological_process
GO:0005829 cytosol cellular_component
GO:0005884 actin filament cellular_component
GO:0005925 focal adhesion cellular_component
GO:0031143 pseudopodium cellular_component
GO:0003779 actin binding molecular_function
GO:0005178 integrin binding molecular_function
GO:0005509 calcium ion binding molecular_function
GO:0005515 protein binding molecular_function
GO:0008307 structural constituent of muscle molecular_function
GO:0042803 protein homodimerization activity molecular_function