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Aliases for CFL2 Gene

Aliases for CFL2 Gene

  • Cofilin 2 2 3
  • Cofilin 2 (Muscle) 2 3 5
  • Nemaline Myopathy Type 7 2 3
  • Cofilin, Muscle Isoform 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, autosomal recessive and typical congenital nemaline myopathy. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Regulation of actin cytoskeleton. GO annotations related to this gene include actin binding. An important paralog of this gene is DSTN.

UniProtKB/Swiss-Prot for CFL2 Gene

  • 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).

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

Promoters for CFL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CFL2 on UCSC Golden Path with GeneCards custom track

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:
    No Data Available

    Alternative splice isoforms for CFL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFL2 Gene

Proteomics data for CFL2 Gene at MOPED

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

Other Protein References for CFL2 Gene

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. 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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

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:0031674 I band IDA 17160903
GO:0070062 extracellular exosome IDA 23533145
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:0030042 actin filament depolymerization 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

No Compound Related Data Available

Transcripts for CFL2 Gene

Unigene Clusters for CFL2 Gene

Cofilin 2 (muscle):
Representative Sequences:

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, MOPED, and MaxQB for CFL2 Gene



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

Protein tissue co-expression partners for CFL2 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CFL2 35
  • 98.59 (n)
  • 100 (a)
CFL2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CFL2 35
  • 99 (n)
  • 100 (a)
CFL2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cfl2 35
  • 95.58 (n)
  • 99.4 (a)
Cfl2 16
Cfl2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CFL2 35
  • 100 (n)
  • 100 (a)
CFL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfl2 35
  • 96.59 (n)
  • 99.4 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 98 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CFL2 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFL2 35
  • 88.96 (n)
  • 96.99 (a)
CFL2 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CFL2 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfl2 35
  • 77.71 (n)
  • 87.95 (a)
Str.5581 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18832 35
zebrafish
(Danio rerio)
Actinopterygii cfl2 35
  • 78.11 (n)
  • 89.16 (a)
cfl2 36
  • 89 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR235W 35
  • 49.48 (n)
  • 44.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00463g 35
  • 54.95 (n)
  • 43.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COF1 35
  • 55.38 (n)
  • 45.67 (a)
COF1 36
  • 41 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ADF6 35
  • 51.28 (n)
  • 35.9 (a)
rice
(Oryza sativa)
Liliopsida Os03g0780400 35
  • 48.18 (n)
  • 38.18 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01587 35
  • 43.18 (n)
  • 34.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
CSA.4636 36
  • 26 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes adf1 35
  • 49.48 (n)
  • 37.5 (a)
Species with no ortholog for CFL2:
  • 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
VAR_031989 Nemaline myopathy 7 (NEM7)
VAR_036458 A breast cancer sample
rs9491 -- 34,710,827(-) GTTAT(G/T)TAGTA nc-transcript-variant, utr-variant-3-prime
rs9789 -- 34,712,580(-) AATGT(A/G)TGTGA nc-transcript-variant, utr-variant-3-prime
rs712301 -- 34,711,183(+) AAAAA(A/T)TTTTA nc-transcript-variant, utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
CFL2
Human Gene Mutation Database (HGMD)
CFL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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
  • nemaline myopathy 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. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (PMID: 11422377) Thirion C. … Lochmuller H. (Eur. J. Biochem. 2001) 3 4 23 67
  2. 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 23
  3. 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 23
  4. Cofilin cross-bridges adjacent actin protomers and replaces part of the longitudinal F-actin interface. (PMID: 16530787) Kudryashov D.S. … Reisler E. (J. Mol. Biol. 2006) 3 23
  5. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3

Products for CFL2 Gene

Sources for CFL2 Gene

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