Version 5.4
Homo sapiens Protein: CFL2
Summary
InnateDB Protein IDBP-4598.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFL2
Protein Name cofilin 2 (muscle)
Synonyms NEM7;
Species Homo sapiens
Ensembl Protein ENSP00000340635
InnateDB Gene IDBG-4594 (CFL2)
Protein Structure
UniProt Annotation
Function Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. 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 (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus matrix {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
Disease Associations 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:0000269PubMed:17160903}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 12 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
Biological Process
GO:0030042 actin filament depolymerization
GO:0030836 positive regulation of actin filament depolymerization
Cellular Component
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0015629 actin cytoskeleton
GO:0016363 nuclear matrix
GO:0031674 I band
Protein Structure and Domains
PDB ID
InterPro IPR002108 Actin-depolymerising factor homology domain
IPR017904 ADF/Cofilin/Destrin
PFAM PF00241
PRINTS PR00006
PIRSF
SMART SM00102
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y281
PhosphoSite PhosphoSite-Q9Y281
TrEMBL Q549N0
UniProt Splice Variant
Entrez Gene 1073
UniGene Hs.592316
RefSeq NP_068733
HUGO HGNC:1875
OMIM 601443
CCDS CCDS9650
HPRD 03262
IMGT
EMBL AF087867 AF134802 AF134803 AF242299 AF283513 AK314157 AL355885 BC011444 BC022364 BC022876 CH471078
GenPept AAD31280 AAD31281 AAF64498 AAF97934 AAH11444 AAH22364 AAH22876 AAM10495 BAG36842 EAW65908 EAW65910 EAW65911 EAW65912

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca