CFL2
entrez
1073
canonical
uniprot
Q9Y281
canonical
ensembl
ENSG00000165410
resolver
ensp
ENSP00000298159
resolver
ensp
ENSP00000340635
resolver
ensp
ENSP00000452451
resolver
genesymbol
CFL2
resolver
hgnc
HGNC:1875
resolver
uniprot
G3V5P4
resolver
uniprot
Q549N0
resolver
uniprot_entry
COF2_HUMAN
resolver
uniprot_entry
Q549N0_HUMAN
resolver
uniprot_sec
G3V5P4
resolver
amino_acid_sequence
MASGVTVNDEVIKVFNDMKVRKSSTQEEIKKRKKAVLFCLSDDKRQIIVEEAKQILVGDIGDTVEDPYTSFVKLLPLNDCRYALYDATYETKESKKEDLVFIFWAPESAPLKSKMIYASSKDAIKKKFTGIKHEWQVNGLDDIKDRSTLGEKLGGNVVVSLEGKPL
uniprot
proteins
disease_involvement
DISEASE: Nemaline myopathy 7 (NEM7) [MIM:610687]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. {ECO:0000269|PubMed:17160903, ECO:0000269|PubMed:22560515}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P45591, ECO:0000269|PubMed:19752190}.
uniprot
proteins
mass_dalton
18737
uniprot
proteins
post_translational_modification
PTM: The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
uniprot
proteins
protein_family
Actin-binding proteins ADF family
uniprot
proteins
pubmed
11422377
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17160903
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19752190
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22560515
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
37316325
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with CSPR3 in the Z line of sarcomeres. {ECO:0000269|PubMed:19752190}.
uniprot
proteins