alpha-actinin-2; alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein (ACTN2)

Function

• F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures
• ACTN2 is a bundling protein
• interacts with ADAM12, MYOZ1, MYOZ2 & MYOZ3
• interacts via its C-terminal region with the LDB3 PDZ domain
• interacts with XIRP2

Structure

• homodimer; antiparallel
• also forms heterodimers with ACTN3
• belongs to the alpha-actinin family
• contains 1 actin-binding domain
• contains 2 CH (calponin-homology) domains
• contains 2 EF-hand domains
• contains 4 spectrin repeats

Compartment

• cytoplasm, myofibril, sarcomere, Z-disk
• colocalizes with MYOZ1 & FLNC at the Z-lines of skeletal muscle

Expression

expressed in both skeletal & cardiac muscle

Pathology

• defects in ACTN2 are the cause of dilated cardiomyopathy type 1AA

More general terms

• alpha-actinin (ACTN)

Database

• UniProt: http://www.uniprot.org/uniprot/P35609.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=88
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:88
• OMIM: https://mirror.omim.org/entry/102573
• OMIM: https://mirror.omim.org/entry/612158