CFL2 Gene - Cofilin 2
Essential regulator of actin dynamics in muscle development and function
Gene Information Card
| Symbol | CFL2 |
|---|---|
| Full Name | Cofilin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q13.1 |
| NCBI Gene ID | 1073 ncbi.nlm.nih.gov/gene/1073 |
| Ensembl ID | ENSG00000165410 |
| UniProt ID | Q9Y281 |
| OMIM ID | 601443 |
| HGNC ID | 1875 |
| Aliases | cofilin-2, muscle-specific cofilin |
Description
CFL2 encodes cofilin 2, a muscle-specific actin-binding protein that severs and depolymerizes actin filaments, regulating actin dynamics essential for muscle development, sarcomere organization, and contractile function. Mutations in CFL2 cause nemaline myopathy type 7 (NEM7), a congenital muscle disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nemaline myopathy 7 (NEM7) | Loss-of-function mutations impair actin depolymerization, leading to nemaline rod accumulation in muscle fibers | ClinVar, OMIM |
| Myopathy, congenital, with fiber-type disproportion | Disrupted actin dynamics affect muscle fiber size and type distribution | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 23.1 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblast) | 12.4 | Skeletal muscle cell line |
| HSMM (skeletal muscle myotube) | 45.8 | Differentiated myotubes |
| H9c2 (rat cardiomyocyte) | 8.7 | Cardiac muscle cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.264C>G (p.Tyr88*) | Nonsense | Rare | Loss of function; associated with NEM7 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production |
| c.202C>T (p.Arg68Trp) | Missense | Rare | Impaired actin binding; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent cofilin 2, reducing actin depolymerization in muscle.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations like p.Arg68Trp disrupt actin binding and may interfere with wild-type cofilin function.
View complete mutation data：
Gene Ontology (GO)
| • actin filament depolymerization | • actin cytoskeleton organization |
| • actin binding | • muscle contraction |
| • regulation of actin filament length |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
Cofilin 2 is a 166-amino acid protein predominantly expressed in skeletal and cardiac muscle. It binds to actin filaments, promoting severing and depolymerization, which is critical for actin turnover during muscle development and contraction. The protein contains an ADF (actin-depolymerizing factor) homology domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFL2 Knockout HEK293 Cell Line | EDJ-KQ4252 | Human | 1073 | Details Get a Quote |
| CFL2 Knockout HCT 116 Cell Line | EDJ-KQ25420 | Human | 1073 | Details Get a Quote |
| CFL2 Knockout A-549 Cell Line | EDJ-KQ26730 | Human | 1073 | Details Get a Quote |
| CFL2 Knockout HeLa Cell Line | EDJ-KQ26731 | Human | 1073 | Details Get a Quote |
