InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CFL2

Summary

InnateDB Protein

IDBP-4596.6

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

ENSP00000298159

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:0007015	actin filament organization
GO:0030042	actin filament depolymerization
GO:0030836	positive regulation of actin filament depolymerization
GO:0045214	sarcomere organization
GO:0046716	muscle cell cellular homeostasis
GO:0061001	regulation of dendritic spine morphogenesis