Cofilin-2

Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.^[5][6]

CFL2
Identifiers
Aliases	CFL2, NEM7, cofilin 2
External IDs	OMIM: 601443; MGI: 101763; HomoloGene: 129115; GeneCards: CFL2; OMA:CFL2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q13.1 Start 34,709,113 bp[1] End 34,714,823 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C1 Start 54,905,594 bp[2] End 54,909,662 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium myocardium of left ventricle deltoid muscle tibialis anterior muscle Skeletal muscle tissue of rectus abdominis quadriceps femoris muscle vastus lateralis muscle biceps brachii Skeletal muscle tissue of biceps brachii muscle of thigh Top expressed in intercostal muscle atrioventricular valve temporal muscle sternocleidomastoid muscle vastus lateralis muscle triceps brachii muscle ankle atrium digastric muscle muscle of thigh More reference expression data BioGPS n/a
Gene ontology Molecular function actin binding protein binding actin filament binding Cellular component nuclear matrix cytoplasm extracellular exosome intracellular anatomical structure cytoskeleton I band nucleus actin cytoskeleton Z discdkac extracellular space Biological process sarcomere organization muscle cell cellular homeostasis positive regulation of actin filament depolymerization actin filament organization actin filament depolymerization skeletal muscle tissue development actin filament fragmentation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1073 12632 Ensembl ENSG00000165410 ENSMUSG00000062929 UniProt Q9Y281 Q549N0 P45591 RefSeq (mRNA) NM_001243645 NM_021914 NM_138638 NM_007688 RefSeq (protein) NP_001230574 NP_068733 NP_619579 NP_068733.1 NP_619579.1 NP_031714 Location (UCSC) Chr 14: 34.71 – 34.71 Mb Chr 12: 54.91 – 54.91 Mb PubMed search [3] [4]
Wikidata
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Function

Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner.^[6] Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN), all of which regulate actin-filament dynamics.^[7][8] The CFL2 gene encodes a skeletal muscle-specific isoform^[9] localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins.^[10]

Clinical significance

Mutations in the CFL2 gene are associated with nemaline myopathy. Deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly concentric laminated bodies.^[11]