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FLASH GENE
Symbol CFL2 contributors: SGE/npt - updated : 01-02-2010
HGNC name cofilin 2 (muscle)
HGNC id 1875
Corresponding disease
NEM7 nemaline myopathy 7
Location 14q13.1      Physical location : 35.179.587 - 35.184.029
Synonym name cofilin, muscle isoform
Synonym symbol(s) COF2
DNA
TYPE functioning gene
STRUCTURE 4.32 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
EGLN3 14q12 egl nine homolog 3 (C. elegans) C14orf147 14q13.1 chromosome 14 open reading frame 147 LOC122585 14q13.1 similar to 60S ribosomal protein L23a C14orf11 14q13 chromosome 14 open reading frame 11 SNX6 14q12 sorting nexin 6 LOC390465 14 similar to 60S ribosomal protein L23a CFL2 14q12-q13 cofilin 2 (muscle) LOC387982 14 similar to 60S RIBOSOMAL PROTEIN L12 BAZ1A 14q12-q13 bromodomain adjacent to zinc finger domain, 1A LOC390466 14 similar to SMT3 suppressor of mif two 3 homolog 2 LOC338902 14q13.2 similar to Immunoglobulin-binding protein 1 (CD79a-binding protein 1) (B cell signal transduction molecule alpha 4) (Alpha 4 protein) SRP54 14q12-q13 signal recognition particle 54kDa C14orf24 14q13.2 chromosome 14 open reading frame 24 C14orf10 14q12 chromosome 14 open reading frame 10 KIAA0391 14q13.1-q21.2 chromosome 14 open reading frame 10 CDC10P 14 CDC10 cell division cycle 10 homolog (S. cerevisiae) pseudogene MRP63P8 14q13.2 mitochondrial ribosomal protein 63 pseudogene 8 PSMA6 14q13 proteasome (prosome, macropain) subunit, alpha type, 6 LOC122589 14q13.2 similar to 60S acidic ribosomal protein P0 (L10E) NFKBIA 14q13 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha DNAJC8P1 14 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 LOC387983 14 LOC387983 LOC390467 14 similar to 40S RIBOSOMAL PROTEIN S3A (V-FOS TRANSFORMATION EFFECTOR PROTEIN) LOC122592 14q13.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) INSM2 14q13.1 insulinoma-associated 2 LOC387984 14 similar to GARNL1 protein GARNL1 14q13.2 GTPase activating RANGAP domain-like 1
RNA
TRANSCRIPTS type messenger
text CFL2b is predominantly expressed in skeletal muscle, heart whereas CLF2A is ubiquitous
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 splicing 3125 - 166 - C.Thirion
4 splicing 3267 - 166 - C.Thirion
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver   highly
Reproductivemale systemprostate  highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one ADF-H domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Cfl2 (99.4pc)
    homolog to rattus Cfl2 (99.4pc)
    Homologene
    FAMILY
  • actin-binding protein ADF family
  • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • actin-binding protein, depolymerization factor of F-actin to G-actin
  • playing a role in normal muscle function and regeneration
  • interfering with immunological synapse formation and T-cell activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a complex with CSRP3 that is directly invovled in sarcomere dysfunction and disase, due to its role in regulating CFL2-dependent F actin depolymerization (Papalouka 2009)
  • major component of the intranuclear and cytoplasmic actin rods
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other phosphorylation of Ser24 may prevent recognition of the nuclear localization signal
    ASSOCIATED DISORDERS
    corresponding disease(s) NEM7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • activated in CD4 T cells of HIV patients, aberrant activation that may also lead to abnormalities in T cells migration and activation that could contribute to viral pathogenesis (Wu 2008)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS