CFL2

CFL2 Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
CFL2
Official Name
cofilin 2 [Source:HGNC Symbol;Acc:HGNC:1875]
Ensembl ID
ENSG00000165410
Bio databases IDs NCBI: 1073 Ensembl: ENSG00000165410
Aliases cofilin 2, nemaline myopathy type 7
Synonyms
Cfl2 predicted,cofilin 2,cofilin 2, muscle,NEM7
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • actin filament binding
  • Cofilin/tropomyosin-type actin-binding protein
  • Actin depolymerization factor/cofilin- and gelsolin-like domains
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • TRIM67
  • ACTC1
  • NANOG
  • NUPR1
  • WDFY4
  • KIF23
  • ACTG1
  • PRKN
  • CUL4A
  • TRIM7
disease
  • nemaline myopathy type 7
  • muscle weakness
  • centronuclear myopathy
  • growth failure
regulated by
  • ARNT2
  • SIM1
  • Ca2+
  • ESR1
  • SNCA
  • DMD
  • Influenza A virus (A/Japan/305/57(H2N2))
  • GLI1
  • GNA12
  • CFL2
regulates
  • CSRP3
  • CFL2
  • F Actin
role in cell
  • quantity
  • abnormal morphology
  • degeneration
  • organization
  • homeostasis
  • depolymerization
  • turnover
  • fragmentation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Cytoplasm
  • Nucleus
  • I band
  • Z line
  • pseudopodia
  • exosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the CFL2 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • muscle cell homeostasis
  • actin filament severing
  • positive regulation of actin filament depolymerization
  • skeletal muscle tissue development
  • actin filament depolymerization
  • sarcomere organization
  • actin filament fragmentation

CELLULAR COMPONENT

Where in the cell the gene product is active
  • Z disc
  • extracellular space
  • extracellular vesicular exosome
  • cytoplasm
  • actin cytoskeleton
  • nuclear matrix
  • I band

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • actin filament binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.