CFL2 Gene (Protein Coding)

Cofilin 2

GC14M034706
GIFtS:
46
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 ... See more...

Aliases for CFL2 Gene

Aliases for CFL2 Gene

  • Cofilin 2 2 3 5
  • Nemaline Myopathy Type 7 2 3
  • Cofilin, Muscle Isoform 3 4
  • Cofilin 2 (Muscle) 2 3
  • Cofilin-2 3 4
  • NEM7 3

External Ids for CFL2 Gene

Previous GeneCards Identifiers for CFL2 Gene

  • GC14M032557
  • GC14M028967
  • GC14M033169
  • GC14M034249
  • GC14M035179
  • GC14M015292

Summaries for CFL2 Gene

Entrez Gene Summary for CFL2 Gene

  • 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]

GeneCards Summary for CFL2 Gene

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 Human cytomegalovirus infection and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL1.

UniProtKB/Swiss-Prot Summary for CFL2 Gene

  • 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).

Gene Wiki entry for CFL2 Gene

Additional gene information for CFL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFL2 Gene

Genomics for CFL2 Gene

GeneHancer (GH) Regulatory Elements for CFL2 Gene

Promoters and enhancers for CFL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J034709 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 508.8 +2.2 2185 7.1 HNRNPK USF1 POLR2G PHF8 ZFX ZNF10 POLR2A KDM6A ZBTB26 REST CFL2 EAPP RPS19P3 NFKBIA PSMA6 FAM177A1 piR-32214-176
GH14J035412 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -701.9 -701878 8.2 CTCF USF1 SP1 ZNF639 EP300 ZIC2 REST RELA MEF2C RCOR1 EAPP RPS19P3 CFL2 RALGAPA1 RNU1-27P SRP54-AS1 INSM2 NFKBIA FAM177A1 BRMS1L
GH14J034833 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -119.7 -119678 10.6 FOXK2 KDM6A ZBTB25 TEAD1 TBX3 ZKSCAN8 FOXA2 ZSCAN9 MAFF SAP130 FAM177A1 CFL2 BAZ1A RPL23AP8 PPP2R3C SRP54 PRORP PSMA6 RALGAPA1 piR-48759-083
GH14J034648 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.8 +64.6 64622 4.4 ZNF217 TCF12 JUND FOS ZNF10 REST EP300 GATAD2B CTBP1 NR2F2 lnc-SNX6-2 CFL2 RNU1-27P EAPP SNX6 piR-43106-063
GH14J034929 Enhancer 1 FANTOM5 Ensembl ENCODE 10.4 -218.7 -218678 9.4 ZNF316 ZNF384 MAFF MAFK SPI1 ELF1 STAT1 POLR2A HLF ATM RF00019-046 PPP2R3C PRORP FAM177A1 SRP54 CFL2 RPS19P3 SRP54-AS1 BAZ1A EAPP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFL2

Top Transcription factor binding sites by QIAGEN in the CFL2 gene promoter:
  • FOXO1
  • FOXO1a
  • HNF-1
  • HNF-1A
  • Sox5
  • STAT5B

Genomic Locations for CFL2 Gene

Genomic Locations for CFL2 Gene
chr14:34,709,113-34,714,823
(GRCh38/hg38)
Size:
5,711 bases
Orientation:
Minus strand
chr14:35,179,588-35,184,029
(GRCh37/hg19)
Size:
4,442 bases
Orientation:
Minus strand

Genomic View for CFL2 Gene

Genes around CFL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFL2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CFL2 Gene

Proteins for CFL2 Gene

Products:

  1. Antibody
  2. Protein
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  • Protein details for CFL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y281-COF2_HUMAN
    Recommended name:
    Cofilin-2
    Protein Accession:
    Q9Y281
    Secondary Accessions:
    • G3V5P4

    Protein attributes for CFL2 Gene

    Size:
    166 amino acids
    Molecular mass:
    18737 Da
    Quaternary structure:
    • Interacts with CSRP3; possibly two molecules of CFL2 can interact with one molecule if CSRP3.

    Alternative splice isoforms for CFL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFL2 Gene

Protein Expression for CFL2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CFL2 Gene

  • The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
  • Ubiquitination at Lys13 and Lys144
  • Modification sites at PhosphoSitePlus

Other Protein References for CFL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFL2 Gene

Domains & Families for CFL2 Gene

Gene Families for CFL2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CFL2 Gene

Blocks:
  • Actin-binding, cofilin/tropomyosin type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFL2 Gene

GenScript: Design optimal peptide antigens:
  • Cofilin, muscle isoform (COF2_HUMAN)
  • cDNA, FLJ94864, Homo sapiens cofilin 2 (muscle) (CFL2), mRNA (Q549N0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y281

UniProtKB/Swiss-Prot:

COF2_HUMAN :
  • Belongs to the actin-binding proteins ADF family.
Family:
  • Belongs to the actin-binding proteins ADF family.
genes like me logo Genes that share domains with CFL2: view

Function for CFL2 Gene

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  2. CRISPR
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Molecular function for CFL2 Gene

UniProtKB/Swiss-Prot 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).
GENATLAS Biochemistry:
cofilin 2,actin-binding protein,muscle type,depolymerisation factor of F-actin to G-actin

Phenotypes From GWAS Catalog for CFL2 Gene

Gene Ontology (GO) - Molecular Function for CFL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0051015 actin filament binding ISS --
genes like me logo Genes that share ontologies with CFL2: view
genes like me logo Genes that share phenotypes with CFL2: view

Human Phenotype Ontology for CFL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFL2 Gene

MGI Knock Outs for CFL2:
  • Cfl2 Cfl2<tm1.1Itl>

Animal Model Products

  • Taconic Biosciences Mouse Models for CFL2

CRISPR Products

miRNA for CFL2 Gene

miRTarBase miRNAs that target CFL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CFL2 Gene

Localization for CFL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFL2 Gene

Nucleus matrix. Cytoplasm, cytoskeleton. Note=Colocalizes with CSPR3 in the Z line of sarcomeres. {ECO:0000269 PubMed:19752190}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFL2 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 3
cytoskeleton 3
mitochondrion 3
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005622 intracellular IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CFL2: view

Pathways & Interactions for CFL2 Gene

PathCards logo

SuperPathways for CFL2 Gene

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
Regulation of actin cytoskeleton
.54
Regulation of Actin Cytoskeleton
.54
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
genes like me logo Genes that share pathways with CFL2: view

Pathways by source for CFL2 Gene

1 Sino Biological pathway for CFL2 Gene
10 GeneGo (Thomson Reuters) pathways for CFL2 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling CDC42 in cellular processes
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
15 Qiagen pathways for CFL2 Gene
  • Actin Nucleation and Branching
  • Actin-Based Motility by Rho Family GTPases
  • CCR3 Pathway in Eosinophils
  • CDC42 Pathway
  • EphrinA-EphR Signaling

SIGNOR curated interactions for CFL2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CFL2 Gene

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 --
GO:0030836 positive regulation of actin filament depolymerization IMP 17160903
genes like me logo Genes that share ontologies with CFL2: view

Drugs & Compounds for CFL2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CFL2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CFL2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFL2 Gene

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:

Relevant External Links for CFL2 Gene

GeneLoc Exon Structure for
CFL2

Expression for CFL2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFL2 Gene

mRNA expression in normal human tissues for CFL2 Gene
mRNA expression by BioGPS for CFL2 GenemRNA expression by GTEx for CFL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFL2 Gene

This gene is overexpressed in Muscle - Skeletal (x7.6) and Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for CFL2 Gene

This gene is overexpressed in Saliva (16.8) and Colon muscle (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CFL2 Gene



Protein tissue co-expression partners for CFL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFL2

SOURCE GeneReport for Unigene cluster for CFL2 Gene:

Hs.180141

mRNA Expression by UniProt/SwissProt for CFL2 Gene:

Q9Y281-COF2_HUMAN
Tissue specificity: Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.

Evidence on tissue expression from TISSUES for CFL2 Gene

  • Muscle(4.8)
  • Liver(4.5)
  • Bone marrow(4.2)
  • Nervous system(4.2)
  • Heart(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFL2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • neck
  • skull
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CFL2: view

Orthologs for CFL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CFL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CFL2 31 30
  • 100 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CFL2 31 30
  • 99 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CFL2 31 30
  • 98.59 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 98 (a)
 OneToMany
-- 31
  • 98 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia CFL2 31
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cfl2 30
  • 96.59 (n)
mouse
(Mus musculus)
 Mammalia Cfl2 17 31 30
  • 95.58 (n)
chicken
(Gallus gallus)
 Aves CFL2 31 30
  • 88.96 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CFL2 31
  • 97 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cfl2 30
  • 77.71 (n)
Str.5581 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18832 30
zebrafish
(Danio rerio)
 Actinopterygii cfl2 31 30
  • 78.11 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes COF1 31 30
  • 55.38 (n)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E00463g 30
  • 54.95 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ADR235W 30
  • 49.48 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ADF6 30
  • 51.28 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0780400 30
  • 48.18 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes adf1 30
  • 49.48 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU01587 30
  • 43.18 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4636 31
  • 26 (a)
 ManyToMany
-- 31
  • 25 (a)
 ManyToMany
Species where no ortholog for CFL2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFL2 Gene

ENSEMBL:
Gene Tree for CFL2 (if available)
TreeFam:
Gene Tree for CFL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFL2: view image

Paralogs for CFL2 Gene

Paralogs for CFL2 Gene

(2) SIMAP similar genes for CFL2 Gene using alignment to 4 proteins:

  • COF2_HUMAN
  • F8WDN3_HUMAN
  • G3V2U0_HUMAN
  • Q549N0_HUMAN
genes like me logo Genes that share paralogs with CFL2: view

Variants for CFL2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFL2 Gene

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

Additional dbSNP identifiers (rs#s) for CFL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFL2 Gene

Variant ID Type Subtype PubMed ID
nsv1041857 CNV gain 25217958

Variation tolerance for CFL2 Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFL2 Gene

Human Gene Mutation Database (HGMD)
CFL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFL2 Gene

Disorders for CFL2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CFL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 7
  • nem7
typical congenital nemaline myopathy
  • typical nemaline myopathy
nemaline myopathy
  • nm
myopathy
  • muscular diseases
skeletal muscle disease
- elite association - COSMIC cancer census association via MalaCards
Search CFL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COF2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for CFL2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CFL2: view

No data available for Genatlas for CFL2 Gene

Publications for CFL2 Gene

  1. Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle. (PMID: 19752190) Papalouka V … Sanoudou D (Molecular and cellular biology 2009) 3 4 23 54
  2. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (PMID: 11422377) Thirion C … Lochmüller H (European journal of biochemistry 2001) 3 4 23 54
  3. Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. (PMID: 8800436) Gillett GT … Povey S (Annals of human genetics 1996) 2 3 23 54
  4. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (PMID: 22560515) Ockeloen CW … van Alfen N (Neuromuscular disorders : NMD 2012) 3 4 54
  5. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (PMID: 17160903) Agrawal PB … Beggs AH (American journal of human genetics 2007) 3 4 54

ExternalLinks

View latest publications for CFL2 gene in Mastermind

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