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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
  • 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, Autosomal Recessive and Typical Congenital Nemaline Myopathy. Among its related pathways are EPHA forward signaling and Pertussis. GO annotations related to this gene include actin binding. An important paralog of this gene is CFL1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFL2 Gene

Genomics for CFL2 Gene

Regulatory Elements for CFL2 Gene

Enhancers for CFL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F034805 0.4 FANTOM5 11.2 -90.8 -90782 0.4 SETDB1 CFL2 PSMA6 BAZ1A PPP2R3C GC14M034846 RPL12P6
GH14F034648 1.4 FANTOM5 Ensembl ENCODE 10.8 +64.6 64636 4.3 TBP PKNOX1 SIN3A RAD21 YY1 RFX5 ZNF121 ZNF766 GATA2 FOS CFL2 RNU1-27P EAPP SNX6 ENSG00000275978
GH14F034604 1.1 Ensembl ENCODE 10.6 +109.4 109423 1.2 GATA3 SNX6 RNU1-27P EAPP CFL2 RPS19P3
GH14F034929 1.2 FANTOM5 Ensembl ENCODE 10.4 -216.2 -216159 2.0 HDGF MLX ZFP64 ARID4B SIN3A SLC30A9 ZNF121 PAF1 SP5 MXD4 FAM177A1 CFL2 PPP2R3C BAZ1A EAPP KIAA0391 NFKBIA GC14M034933 ENSG00000258493
GH14F035412 0.9 FANTOM5 Ensembl ENCODE 10.3 -701.0 -701026 6.1 HDGF PKNOX1 WRNIP1 ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 JUNB MXD4 EAPP RPS19P3 CFL2 RALGAPA1 RNU1-27P SRP54-AS1 INSM2 NFKBIA FAM177A1 BRMS1L
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CFL2 on UCSC Golden Path with GeneCards custom track

Promoters for CFL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000416355 1423 4001 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 PAF1

Genomic Location for CFL2 Gene

Chromosome:
14
Start:
34,706,769 bp from pter
End:
34,714,823 bp from pter
Size:
8,055 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 StructureGene Density

RefSeq DNA sequence for CFL2 Gene

Proteins for CFL2 Gene

  • 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

Post-translational modifications for CFL2 Gene

  • The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
  • Ubiquitination at Lys 13 and Lys 144
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CFL2 Gene

Domains & Families for CFL2 Gene

Protein Domains for CFL2 Gene

Suggested Antigen Peptide Sequences for CFL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y281

UniProtKB/Swiss-Prot:

COF2_HUMAN :
  • Contains 1 ADF-H domain.
  • Belongs to the actin-binding proteins ADF family.
Domain:
  • Contains 1 ADF-H domain.
Family:
  • Belongs to the actin-binding proteins ADF family.
genes like me logo Genes that share domains with CFL2: view

No data available for Gene Families for CFL2 Gene

Function for CFL2 Gene

Molecular function for CFL2 Gene

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

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for CFL2

miRNA for CFL2 Gene

miRTarBase miRNAs that target CFL2

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for CFL2 Gene COMPARTMENTS Subcellular localization image for CFL2 gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 4
cytoskeleton 3
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for CFL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CFL2: view

Pathways & Interactions for CFL2 Gene

genes like me logo Genes that share pathways with CFL2: view

SIGNOR curated interactions for CFL2 Gene

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

Transcripts for CFL2 Gene

Unigene Clusters for CFL2 Gene

Cofilin 2 (muscle):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
CFL2

Expression for CFL2 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for CFL2 Gene



Protein tissue co-expression partners for CFL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFL2 Gene:

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.
genes like me logo Genes that share expression patterns with CFL2: view

Primer Products

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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia CFL2 34 35
  • 99 (n)
cow
(Bos Taurus)
Mammalia CFL2 34 35
  • 98.59 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CFL2 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfl2 34
  • 96.59 (n)
mouse
(Mus musculus)
Mammalia Cfl2 34 16 35
  • 95.58 (n)
chicken
(Gallus gallus)
Aves CFL2 34 35
  • 88.96 (n)
lizard
(Anolis carolinensis)
Reptilia CFL2 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfl2 34
  • 77.71 (n)
Str.5581 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18832 34
zebrafish
(Danio rerio)
Actinopterygii cfl2 34 35
  • 78.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COF1 34 35
  • 55.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00463g 34
  • 54.95 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR235W 34
  • 49.48 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ADF6 34
  • 51.28 (n)
rice
(Oryza sativa)
Liliopsida Os03g0780400 34
  • 48.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes adf1 34
  • 49.48 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01587 34
  • 43.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4636 35
  • 26 (a)
ManyToMany
-- 35
  • 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)

Paralogs for CFL2 Gene

Paralogs for CFL2 Gene

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

genes like me logo Genes that share paralogs with CFL2: view

Variants for CFL2 Gene

Sequence variations from dbSNP and Humsavar for CFL2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs397515451 Nemaline myopathy 7 (NEM7) [MIM:610687], Pathogenic 34,713,546(-) TTACA(A/G)TGAAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs80358250 Pathogenic, Nemaline myopathy 7 (NEM7) [MIM:610687] 34,713,462(-) AGAAA(A/G)CAGTT intron-variant, nc-transcript-variant, reference, missense
VAR_036458 A breast cancer sample
rs145938782 Likely benign 34,712,925(+) AGTGT(C/G/T)GAACG nc-transcript-variant, reference, synonymous-codon
rs542840152 Likely benign 34,713,550(+) ACTGT(A/G)ACTCC nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime

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)

Relevant External Links for CFL2 Gene

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

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

Disorders for CFL2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CFL2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 7, autosomal recessive
  • nemaline myopathy 7
typical congenital nemaline myopathy
  • typical nemaline myopathy
cfl2-related nemaline myopathy
  • nem 7
nemaline myopathy
  • nemaline body disease
myopathy
  • muscular diseases
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CFL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFL2
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. (Mol. Cell. Biol. 2009) 3 4 22 64
  2. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (PMID: 11422377) Thirion C. … Lochmuller H. (Eur. J. Biochem. 2001) 3 4 22 64
  3. Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. (PMID: 8800436) Gillett G.T. … Povey S. (Ann. Hum. Genet. 1996) 2 3 22 64
  4. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (PMID: 22560515) Ockeloen C.W. … van Alfen N. (Neuromuscul. Disord. 2012) 3 4 64
  5. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (PMID: 17160903) Agrawal P.B. … Beggs A.H. (Am. J. Hum. Genet. 2007) 3 4 64

Products for CFL2 Gene

Sources for CFL2 Gene

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