cofilin-2; cofilin, muscle isoform (CFL2)

Function

• reversible control of actin polymerization & depolymerization (pH-sensitive)
• it has the ability to bind G-actin & F-actin in a 1:1 ratio of cofilin to actin
• major component of intranuclear & cytoplasmic actin rods
• phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal

Structure

• belongs to the actin-binding proteins ADF family
• contains 1 ADF-H domain

Compartment

• nucleus matrix (putative)
• cytoplasm, cytoskeleton (putative)

Alternative splicing

named isoforms=2; CFL2a, CFL2b isoforms are identical at the level of the protein sequence

Expression

• isoform CFL2b is expressed predominantly in skeletal muscle & heart
• isoform CFL2a is expressed in various tissues

Pathology

• defects in CFL2 are the cause of nemaline myopathy type 7

Comparative biology

• in mouse, found in heart, skeletal muscle, testis

More general terms

• cofilin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1073
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1073
• OMIM: https://mirror.omim.org/entry/601443
• OMIM: https://mirror.omim.org/entry/610687
• UniProt: http://www.uniprot.org/uniprot/Q9Y281.html