Free for academic non-profit institutions. Other users need a Commercial license
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]
CFL2 (Cofilin 2) is a Protein Coding gene. Diseases associated with CFL2 include Nemaline Myopathy 7 and Typical Congenital Nemaline Myopathy. Among its related pathways are Development Slit-Robo signaling and Guidance Cues and Growth Cone Motility. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0051015 | actin filament binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 23580065 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
CDC42 Pathway
.41
|
RhoA Pathway
.35
|
2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
|
Development MAG-dependent inhibition of neurite outgrowth
.42
|
3 | Regulation of actin cytoskeleton | ||
4 | Apoptotic Pathways in Synovial Fibroblasts |
Rac1 Pathway
.65
|
Actin-Based Motility by Rho Family GTPases
.62
|
5 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
|
Internalin Pathway
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007015 | actin filament organization | IEA | -- |
GO:0007519 | skeletal muscle tissue development | IEA | -- |
GO:0030042 | actin filament depolymerization | ISS | -- |
GO:0030043 | actin filament fragmentation | IEA,IBA | 21873635 |
GO:0030836 | positive regulation of actin filament depolymerization | IMP | 17160903 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | · | 7g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CFL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CFL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CFL2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CFL2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cfl2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cfl2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CFL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CFL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cfl2 30 |
|
||
Str.5581 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18832 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cfl2 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | COF1 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E00463g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR235W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ADF6 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0780400 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | adf1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01587 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4636 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
650607 | Uncertain Significance: Nemaline myopathy 7 | 34,713,120(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
661578 | Uncertain Significance: Nemaline myopathy 7 | 34,713,511(-) | C/T | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
662117 | Uncertain Significance: Nemaline myopathy 7 | 34,712,889(-) | AACT/A | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
668070 | Benign: not provided | 34,715,117(-) | T/C | ||
668071 | Benign: not provided | 34,715,040(-) | T/C |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1041857 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nemaline myopathy 7 |
|
|
typical congenital nemaline myopathy |
|
|
nemaline myopathy |
|
|
myopathy |
|
|
skeletal muscle disease |
|
|