CFL2

Chr 14AR

cofilin 2

Also known as: NEM7

NCBI Gene: 1073ENSG00000165410UniProt: Q9Y281OMIM: 601443

This protein regulates actin filament dynamics by binding G- and F-actin in a 1:1 ratio and reversibly controlling actin polymerization and depolymerization in a pH-dependent manner. Mutations cause nemaline myopathy type 7, a congenital myopathy inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of normal actin filament regulation, leading to the characteristic nemaline rod formations in muscle fibers.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.531 OMIM phenotype
Clinical Summary— CFL2
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Gene-Disease Validity (ClinGen)
nemaline myopathy 7 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.53LOEUF
pLI 0.000
Z-score 0.47
OE 0.83 (0.47–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.61Z-score
OE missense 0.51 (0.40–0.65)
43 obs / 84.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.83 (0.47–1.53)
0≤0.351.4
Missense OE0.51 (0.40–0.65)
0≤0.61.4
Synonymous OE0.74
0≤1.21.6
LoF obs/exp: 7 / 8.5Missense obs/exp: 43 / 84.8Syn Z: 1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CFL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
SP1-activated CFL2 promotes high glucose-induced retinal pigment epithelial cell injury and involves the AMPK/mTOR pathway.
Xiao J et al.·J Diabetes Investig
2025Open Access
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.
Dofash LNH et al.·Hum Mol Genet
2025Open Access
Integrated Network Analysis of microRNAs, mRNAs, and Proteins Reveals the Regulatory Interaction between hsa-mir-200b and CFL2 Associated with Advanced Stage and Poor Prognosis in Patients with Intestinal Gastric Cancer.
Dos Santos EC et al.·Cancers (Basel)
2023Open AccessCohort
LncRNA TUG1 Exacerbates Myocardial Fibrosis in Diabetic Cardiomyopathy by Modulating the microRNA-145a-5p/Cfl2 Axis.
Wang K et al.·J Cardiovasc Pharmacol
2023
New Insight into Muscle-Type Cofilin (CFL2) as an Essential Mediator in Promoting Myogenic Differentiation in Cattle.
Sun Y et al.·Bioengineering (Basel)
2022Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients