CFL2

Chr 14q13.1

cofilin 2

Aliases:: NEM7
MANE:: ENST00000298159.11

OMIM: 601443 ↗NCBI: 1073 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CFL2 · Q9Y281

v62025-08-01

Predicted Aligned Error matrix for CFL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

166 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)46%
Low(50–70)3%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nemaline myopathy 7
0.76
typical nemaline myopathy
0.60
atrial fibrillation
0.51
nemaline myopathy
0.38
ocular hypotension
0.28
Takayasu arteritis
0.27
centronuclear myopathy
0.27
hypothyroidism
0.23
hereditary disease
0.18
smoking initiation
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cofilin-2

Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity)