Homo sapiens Gene: CFL2
Summary
InnateDB Gene IDBG-4594.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFL2
Gene Name cofilin 2 (muscle)
Synonyms NEM7
Species Homo sapiens
Ensembl Gene ENSG00000165410
Encoded Proteins
cofilin 2 (muscle)
cofilin 2 (muscle)
cofilin 2 (muscle)
cofilin 2 (muscle)
cofilin 2 (muscle)
cofilin 2 (muscle)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:34706769-34714823
Strand Reverse strand
Band q13.1
Transcripts
ENST00000298159 ENSP00000298159
ENST00000341223 ENSP00000340635
ENST00000422678 ENSP00000409326
ENST00000554470 ENSP00000450862
ENST00000555765 ENSP00000452451
ENST00000556161 ENSP00000452188
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
Cellular Component
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0015629 actin cytoskeleton
GO:0016363 nuclear matrix
GO:0031674 I band
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Leptin pathway
REACTOME
KEGG
Regulation of actin cytoskeleton pathway
Axon guidance pathway
Fc gamma R-mediated phagocytosis pathway
INOH
PID NCI
Caspase Cascade in Apoptosis
Cross-References
SwissProt
TrEMBL F8WDN3
UniProt Splice Variant
Entrez Gene 1073
UniGene Hs.180141 Hs.592316
RefSeq NM_001243645 NM_021914 NM_138638
HUGO HGNC:1875
OMIM 601443
CCDS CCDS58311 CCDS9649 CCDS9650
HPRD 03262
IMGT
EMBL AL355885
GenPept
RNA Seq Atlas 1073