CFL2

This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Description

Cofilin 2

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14 (34709113 - 34714823)

Ensembl ID

ENSG00000165410  (ver. 103.38)

Orthologs

Mouse Cfl2: ENSMUSG00000062929

UniProt

Q9Y281

neXtProt

NX_Q9Y281

Human splice variants
Mouse splice variants

Protein structure