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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CFL2 Gene

protein-coding   GIFtS: 65
GCID: GC14M035179

cofilin 2 (muscle)
 Explore 9 diseases affiliated with
CFL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CFL2    

Aliases
for CFL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cofilin 2 (Muscle)1 2
NEM71 2 5
Cofilin, Muscle Isoform2 3
Cofilin-21
Nemaline Myopathy Type 72

External Ids:    HGNC: 18751   Entrez Gene: 10732   Ensembl: ENSG000001654107   OMIM: 6014435   UniProtKB: Q9Y2813   
ORGUL members:         
NONCODE:n408153 n408151    

Export aliases for CFL2 gene to outside databases

Previous GC identifers: GC14M032557 GC14M028967 GC14M033169 GC14M034249 GC14M015292


Summaries
for CFL2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CFL2:
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)

UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281
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)

Gene Wiki entry for CFL2


Genomic Views
for CFL2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CFL2 gene promoter:
         STAT5B   Sox5   HNF-1   FOXO1a   FOXO1   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CFL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CFL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q13.1   HGNC cytogenetic band: 14q13.2

CFL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFL2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M035179:  view genomic region     (about GC identifiers)

Start:
 35,179,588 bp from pter      End:
 35,184,029 bp from pter
Size:
 4,442 bases      Orientation:
 minus strand
ORGUL member locations:
Legend (see complete legend)

  • n408151
  • n408153
35179587 35181808 35184029 chr14

Proteins
for CFL2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281 (See protein sequence)
Recommended Name: Cofilin-2  
Size: 166 amino acids; 18737 Da
Subcellular location: Nucleus matrix (By similarity). Cytoplasm, cytoskeleton (By similarity)
Alternative splicing: 2 isoforms:  Q9Y281-1   Q9Y281-2   

Explore the universe of human proteins at neXtProt for CFL2: NX_Q9Y281

Post-translational modifications:

  • The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y281

    • CFL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001230574.1  NP_068733.1  NP_619579.1  

    ENSEMBL proteins: 
     ENSP00000340635   ENSP00000298159   ENSP00000450862   ENSP00000409326   ENSP00000452451  
     ENSP00000452188  

    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant CFL2 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 2): CFL2
    OriGene Protein Over-expression Lysate (see all 3): CFL2
    OriGene Custom Protein Services for CFL2 
    GenScript Custom Purified and Recombinant Proteins Services for CFL2
    Novus Biologicals CFL2 Proteins
    Novus Biologicals CFL2 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CFL2
    Uscn Proteins for CFL2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016363nuclear matrix IEA--


    CFL2 for ontologies           About GeneDecksing



    CFL2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CFL2
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    Abcam antibodies for CFL2 
    Uscn Antibodies for CFL2
    ThermoFisher Antibody for CFL2

    Assay Products for CFL2: 
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    GenScript Custom Assay Services for CFL2
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    Uscn ELISAs and CLIAs for CFL2

    Protein Domains /
    Families
    for CFL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CFL2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR027234 Cofilin_1/2
     IPR002108 Actin-bd_cofilin/tropomyosin
     IPR017904 ADF/Cofilin/Destrin

    Graphical View of Domain Structure for InterPro Entry Q9Y281

    ProtoNet protein and cluster: Q9Y281

    1 Blocks protein family: IPB002108 Actin-binding

    UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281
    Similarity: Belongs to the actin-binding proteins ADF family
    Similarity: Contains 1 ADF-H domain


    Function
    for CFL2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281
    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)

         Genatlas biochemistry entry for CFL2:
    cofilin 2,actin-binding protein,muscle type,depolymerisation factor of F-actin to G-actin

    miRNA
    Products:            		miRTarBase miRNAs that target CFL2:
    hsa-mir-373 (MIRT002526)

    OriGene 3'-UTR Clone (see all 2): CFL2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFL2
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate CFL2 (see all 70):
    hsa-miR-607 hsa-miR-520e hsa-miR-520f hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d hsa-miR-30a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: CFL2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFL2 (see all 7)
    OriGene shRNA RFP: CFL2
    OriGene siRNA: CFL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFL2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CFL2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CFL2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFL2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CFL2 (NM_021914)
    Sino Biological Human cDNA Clone for CFL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFL2 

    Cell Line
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    Search LifeMap BioReagents cell lines for CFL2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFL2

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI16189514


    CFL2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cfl2tm1.1Itl for CFL2
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cfl2):
     behavior/neurological  growth/size  mortality/aging  muscle  nervous system 

    CFL2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CFL2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Fibronectin-binding integrins in cell motility0.32
    		Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility0.32
    2Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Inhibitory action of Lipoxins on neutrophil migration0.51
    		Immune response CCR3 signaling in eosinophils1.00
    3Actin Nucleation by ARP-WASP Complex
    		Actin Nucleation and Branching0.66
    		CDC42 Pathway0.34
    		RhoA Pathway0.35
    4Cytoskeleton remodeling Slit-Robo signaling
    		Cytoskeleton remodeling Slit-Robo signaling1.00
    		Development_Slit-Robo signaling0.92
    5Development MAG-dependent inhibition of neurite outgrowth
    		Development MAG-dependent inhibition of neurite outgrowth1.00
    		Development_MAG-dependent inhibition of neurite outgrowth0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/9 EMD Millipore Pathways for CFL2 (see all 9)
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cytoskeleton remodeling CDC42 in cellular processes
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
    Cytoskeleton remodeling Slit-Robo signaling
    Immune response CCR3 signaling in eosinophils

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CFL2 (see all 15)
        RhoA Pathway
    Sertoli-Sertoli Cell Junction Dynamics
    Actin-Based Motility by Rho Family GTPases
    Guidance Cues and Growth Cone Motility
    Internalin Pathway

    5/10 GeneGo (Thomson Reuters) Pathways for CFL2 (see all 10)
        Cytoskeleton remodeling CDC42 in cellular processes
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
    Neurophysiological process Receptor-mediated axon growth repulsion
    Development Slit-Robo signaling

    4 BioSystems Pathways for CFL2 
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    Leptin signaling pathway
    Caspase cascade in apoptosis


    4         Kegg Pathways  (Kegg details for CFL2):
        Axon guidance
    Fc gamma R-mediated phagocytosis
    Regulation of actin cytoskeleton
    Pertussis


    CFL2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CFL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/22 Interacting proteins for CFL2 (Q9Y2811, 2, 3 ENSP000002981594) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607091, 2, 3, ENSP000003499604EBI-351218,EBI-353944 MINT-66169 I2D: score=7 STRING: ENSP00000349960
    MAP3K3Q997592, 3MINT-48513 I2D: score=2 
    ACTG1P632611, 2, 3, ENSP000003315144EBI-351218,EBI-351292 MINT-66294 I2D: score=6 STRING: ENSP00000331514
    LIMK1P536673, ENSP000003367404I2D: score=1 STRING: ENSP00000336740
    SSH1Q8WYL53, ENSP000003157134I2D: score=1 STRING: ENSP00000315713
    About this table

    Drugs & Compounds
    for CFL2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CFL2
    Search CenterWatch for drugs/clinical trials and news about CFL2 / COF2 

    Transcripts
    for CFL2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CFL2 gene (3 alternative transcripts): 
    NM_001243645.1  NM_021914.7  NM_138638.4  

    Unigene Cluster for CFL2:

    Cofilin 2 (muscle)
    Hs.180141  [show with all ESTs]
    Unigene Representative Sequence: NM_138638
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341223(uc001wsg.3) ENST00000298159(uc010tpn.1 uc001wsh.3 uc001wsi.3 uc001wsj.3)
    ENST00000554470 ENST00000422678 ENST00000555765 ENST00000556161

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): CFL2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFL2
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate CFL2 (see all 70):
    hsa-miR-607 hsa-miR-520e hsa-miR-520f hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d hsa-miR-30a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmid: CFL2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFL2 (see all 7)
    OriGene shRNA RFP: CFL2
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFL2
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF087867.1 AF134802.1 AF134803.1 AK314157.1 AL117457.1 BC011444.1 BC022364.1 BC022876.1 
    BC025683.1 NR_028130.1 NR_028131.1 

    18 DOTS entries:

    DT.92448139  DT.92448138  DT.91664511  DT.95325291  DT.95295406  DT.120760548  DT.120760545  DT.100821113 
    DT.100821115  DT.102830688  DT.95325323  DT.97821297  DT.100821117  DT.120760518  DT.120760534  DT.92448136 
    DT.95325293  DT.95342137 

    24/344 AceView cDNA sequences (see all 344):

    CA424687 BQ938277 AI127792 BM700117 AI968444 C01889 AA814981 CB157575 
    AA054723 BF439067 AA722466 AI140933 BM713457 BQ929931 BE503345 BU166750 
    BU195780 BM466961 CD515012 CA391325 BX380090 AA045707 CA424911 BU683085 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CFL2 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
    SP1:                          -     -     -           -                                                         
    SP2:                          -     -     -                                                                     
    SP3:                          -     -     -                 -                                                   
    SP4:                          -     -     -           -     -                                                   
    SP5:                                -     -                                                                     


    ECgene alternative splicing isoforms for CFL2

    Expression
    for CFL2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CFL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGCAATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See CFL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFL2

    SOURCE GeneReport for Unigene cluster: Hs.180141

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

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    In Situ
    Assay Products:     
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    Orthologs
    for CFL2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CFL2 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CFL21 cofilin 2 (muscle) 88.96(n)
    96.99(a)    		   423320  NM_001004406.1  NP_001004406.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CFL26
    		 --
    		 97(a)
    		 1 ↔ 1
    		 2(54729958-54730777)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.188322 Xenopus laevis transcribed sequence with weak similarity to protein refNP_068733.1 (H.sapiens) cofilin 2 (muscle) [Homo sapiens] less 88.92(n)    BI446698.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cfl21 cofilin 2 (muscle) 78.11(n)
    89.16(a)    		   403001  NM_205700.1  NP_991263.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta tsr6
    CG68736
    		 --
    		 34(a)
    30(a)
    		 many ↔ many
    many ↔ many
    		 2R(19931971-19934359)
    X(18633249-18633928)
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-606
    		 Actin-depolymerizing factor 1, isoforms a/b
    		 20(a)
    		 1 → many
    		 V(1474786-1479582)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATADF46
    ADF26
    (see all 12)    		 actin depolymerizing factor 2
    (see all 12)    		 32(a)
    31(a)
    (see all 12)    		 many ↔ many
    many ↔ many
    (see all 12)    		 5(24122412-24123912)
    3(16907451-16908999)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 actin-depolymerizing factor, putative, expressed
    (see all 10)    		 30(a)
    30(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 7(17739695-17741322)
    3(34424531-34427186)


    ENSEMBL Gene Tree for CFL2 (if available)
    TreeFam Gene Tree for CFL2 (if available) 

    Paralogs
    for CFL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CFL2 gene
    DSTN2  CFL12  
    2 SIMAP similar genes for CFL2 using alignment to 5 protein entries:     COF2_HUMAN (see all proteins):
    CFL1    DSTN

    CFL2 for paralogs           About GeneDecksing



    Genomic Variants
    for CFL2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/120 NCBI SNPs in CFL2 are shown (see all 120)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803582501,2
    		Cpathogenic15296036(-) AGAAAA/GCAGTT 8 T A int1 nc-transcript-variantmis10--------
    rs761096491,2
    		C,F,--15292457(+) CACGTT/CGTTTT 5 -- ds50011Minor allele frequency- C:0.07EA 120
    rs174532401,2
    		C,F,H,--15292537(+) TCTGAG/CTGGCA 5 -- ds500129Minor allele frequency- C:0.07NA NS EA WA 3308
    rs783824101,2
    		C,F,--15292819(+) CAACTG/ATTCCC 5 -- ds50011Minor allele frequency- A:0.06WA 118
    rs415289461,2
    		C,F,H,--15293535(-) AGGCCA/GAACTC 5 -- nc-transcript-variantut3116Minor allele frequency- G:0.08NS EA NA WA CSA 1616
    rs789173431,2
    		C,F,--15294079(+) CAAAAT/CATATT 5 -- nc-transcript-variantut311Minor allele frequency- C:0.02WA 118
    rs10593181,2
    		F--15294633(-) CTCCCC/TACCCT 5 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.23MN 184
    rs749745391,2
    		F,--15294768(+) CAGTAG/ATGTAC 5 -- nc-transcript-variantut311Minor allele frequency- A:0.02EA 120
    rs1166517111,2
    		C,F,--15295030(+) ACTGCA/CATCAA 5 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.05WA 118
    rs19591491,2
    		H--15295923(+) AACTTC/AACAAA 8 /V syn1 int15Minor allele frequency- A:0.00MN NS EA 586

    HapMap Linkage Disequilibrium report for CFL2 (35179588 - 35184029 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CFL2: --
    Human Gene Mutation Database (HGMD): CFL2

    Locus Specific Mutation Databases (LSDB): CFL2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CFL2
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    Disorders / Diseases
    for CFL2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CFL2 for disorders           About GeneDecksing

    OMIM gene information: 601443   
    OMIM disorders: 610687  
    UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281
  • Defects in CFL2 are the cause of nemaline myopathy type 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-or rod-like 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

    9 diseases for CFL2:    About MalaCards
    nemaline myopathy    myopathy    hypotonia    pertussis
    pancreatic cancer    prostate cancer    pancreatitis    prostatitis
    malaria

    2 diseases from the University of Copenhagen DISEASES database for CFL2:
    Nemaline myopathy     Distal arthrogryposis
    GeneTests: CFL2
    Nemaline Myopathy


    Export disorders for CFL2 gene to outside databases

    Publications
    for CFL2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CFL2 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with CFL2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (PubMed id 11422377)1, 2, 9 Thirion C.... Lochmuller H. (2001)
    2. Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. (PubMed id 8800436)1, 3, 9 Gillett G.T.... Povey S. (1996)
    3. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (PubMed id 17160903)1, 2 Agrawal P.B.... Beggs A.H. (2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Muscle LIM protein interacts with cofilin 2 and regul ates F-actin dynamics in cardiac and skeletal muscle. (PubMed id 19752190)1, 9 Papalouka V....Sanoudou D. (2009)
    7. Cofilin cross-bridges adjacent actin protomers and replaces part of the longitudinal F-actin interface. (PubMed id 16530787)1, 9 Kudryashov D.S....Reisler E. (2006)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Cofilin weakly interacts with 14-3-3 and therefore can only indirectly participate in regulation of cell motility by small heat shock protein HspB6 (Hsp20). (PubMed id 22450169)1 Sudnitsyna M.V....Gusev N.B. (2012)

    External Searches for CFL2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CFL2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1073 HGNC: 1875 AceView: CFL2 Ensembl:ENSG00000165410 euGenes: HUgn1073
    ECgene: CFL2 Kegg: 1073 H-InvDB: CFL2

    Other Databases showing CFL2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CFL2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CFL2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Cofilin

    Intellectual Property
    for CFL2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CFL2 gene:
    Search GeneIP for patents involving CFL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics
    About This Section

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