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CFL2 Gene

protein-coding   GIFtS: 65
GCID: GC14M035179

Cofilin 2 (Muscle)

  See CFL2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cofilin 2 (Muscle)1 2
Nemaline Myopathy Type 71 2
Cofilin, Muscle Isoform2 3
NEM72 5
cofilin-22

External Ids:    HGNC: 18751   Entrez Gene: 10732   Ensembl: ENSG000001654107   OMIM: 6014435   UniProtKB: Q9Y2813   

Export aliases for CFL2 gene to outside databases

Previous GC identifers: GC14M032557 GC14M028967 GC14M033169 GC14M034249 GC14M015292


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (muscle)) is a protein-coding gene. Diseases associated with CFL2 include cfl2-related nemaline myopathy, and nemaline myopathy 7, autosomal recessive. GO annotations related to this gene include actin binding. An important paralog of this gene is DSTN.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 plasmidCFL2 promoter sequence
   Search Chromatin IP Primers for CFL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)

ORGUL Member Locations for CFL2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281 (See protein sequence)
Recommended Name: Cofilin-2  
Size: 166 amino acids; 18737 Da
Secondary accessions: G3V5P4
Alternative splicing: 3 isoforms:  Q9Y281-1   Q9Y281-2   Q9Y281-3   (Gene prediction based on EST data)

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

Explore proteomics data for CFL2 at MOPED

Post-translational modifications: 

  • The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal1
  • Ubiquitination2 at Lys13, Lys19, Lys92, Lys112, Lys114, Lys121, Lys144
  • Modification sites at PhosphoSitePlus

  • See CFL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000340635   ENSP00000298159   ENSP00000450862   ENSP00000409326   ENSP00000452451  
     ENSP00000452188  

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    Cloud-Clone Corp. Proteins for CFL2

     
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    antibodies-online proteins for CFL2 (10 products) 

     
    antibodies-online peptides for CFL2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     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 domain: IPB002108 Actin-binding

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


    Find genes that share domains with CFL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI16189514
         
    Find genes that share ontologies with CFL2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cfl2):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with CFL2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cfl2tm1.1Itl for CFL2

       genOway: Develop your customized and physiologically relevant rodent model for CFL2

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    hsa-mir-373-3p (MIRT002526), hsa-mir-16-5p (MIRT002475), hsa-let-7a-5p (MIRT052465), hsa-mir-215-5p (MIRT024888), hsa-mir-30c-5p (MIRT047949), hsa-mir-192-5p (MIRT026396), hsa-mir-375 (MIRT019819), hsa-mir-155-5p (MIRT020703)

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    Selected qRT-PCR 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 plasmidCFL2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COF2_HUMAN, Q9Y281: Nucleus matrix (By similarity). Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    mitochondrion2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0015629actin cytoskeleton IEA--
    GO:0016363nuclear matrix IEA--

    Find genes that share ontologies with CFL2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CFL2 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    Cytoskeleton remodeling Slit Robo signaling0.92
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Cytoskeleton remodeling Fibronectin binding integrins in cell motility0.32
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    RhoA Pathway0.35
    CDC42 Pathway0.41


    Find genes that share SuperPaths with CFL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

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



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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFL2
    Interactions:

        Search GeneGlobe Interaction Network for CFL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CFL2 (Q9Y2811, 2, 3 ENSP000002981594) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    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
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    SSH1Q8WYL53, ENSP000003157134I2D: score=1 STRING: ENSP00000315713
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030042actin filament depolymerization IEA--
    GO:0030836positive regulation of actin filament depolymerization IMP17160903

    Find genes that share ontologies with CFL2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFL2 (COF2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 344):

    AA305062 AA045707 AI123135 BC022364 AA814981 AA743812 AA921950 BU683085 
    CD109774 AV726166 BQ929931 BM973058 BU166750 AI127792 CA424911 CB992605 
    AI954524 N76737 Z25926 AA054670 BU195780 CB046724 BQ938277 BU624209 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGCAATTT
    CFL2 Expression
    About this image


    CFL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Uterus (Reproductive System)
     
     Ovary (Reproductive System)
     
     Adrenal Gland (Endocrine System)
     
     Esophagus (Gastrointestinal Tract)
    CFL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFL2 Protein Expression

    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
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CFL2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfl21 , 5 cofilin 2, muscle1, 5 95.58(n)1
    99.4(a)1
      12 (23.75 cM)5
    126321  NM_007688.21  NP_031714.11 
     548588175 
    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
    cofilin 2 (muscle)
    97(a)
    1 ↔ 1
    2(54726583-54730777)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COF11 COF1 55.38(n)
    45.67(a)
      850676   NP_013050.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ADF61 ADF6 51.28(n)
    35.9(a)
      817676  NM_128676.4  NP_565719.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07804001 Os03g0780400 48.18(n)
    38.18(a)
      4334307  NM_001057984.1  NP_001051449.1 


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

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

    Find genes that share paralogs with CFL2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFL2 (see all 144)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364584
    A breast cancer sample4--see VAR_0364582 I M mis40--------
    VAR_0319894
    Nemaline myopathy 7 (NEM7)4--see VAR_0319892 A T mis40--------
    rs803582501,2
    Cpathogenic116180397(-) AGAAAA/GCAGTT 8 T A mis1 int10--------
    rs352197281,2
    C--15295775(+) CTATG-/ATAATAAT 5 -- int11Minor allele frequency- ATA:0.50NA 2
    rs761096491,2
    C,F--16176820(+) CACGTT/CGTTTT 5 -- ds50011Minor allele frequency- C:0.07EA 120
    rs1919588931,2
    --16176874(+) ATGAAG/TAGCAA 5 -- ds50010--------
    rs174532401,2
    C,F,H--16176900(+) TCTGAG/CTGGCA 5 -- ds500129Minor allele frequency- C:0.07NA NS EA WA 3308
    rs1165675661,2
    F--16177097(+) AGGCAC/GATTTC 5 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1832906301,2
    --16177109(+) ATACAC/GAATGC 5 -- ds50010--------
    rs1159739581,2
    C,F--16177113(+) ACAATG/ACTGGC 5 -- ds50012Minor allele frequency- A:0.03WA NA 238

    HapMap Linkage Disequilibrium report for CFL2 (35179588 - 35184029 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CFL2: --
    Human Gene Mutation Database (HGMD): CFL2
    Locus Specific Mutation Databases (LSDB): CFL2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CFL2
    DNA2.0 Custom Variant and Variant Library Synthesis for CFL2

    (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.)
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    OMIM gene information: 601443   
    OMIM disorders: 610687  
    UniProtKB/Swiss-Prot: COF2_HUMAN, Q9Y281
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for CFL2:    
    About MalaCards
    cfl2-related nemaline myopathy    nemaline myopathy 7, autosomal recessive    myopathy    typical nemaline myopathy

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

    Find genes that share disorders with CFL2           About GenesLikeMe

    GeneTests: CFL2
    GeneReviews: CFL2

    Export disorders for CFL2 gene to outside databases

    (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)
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    PubMed articles for CFL2 gene, integrated from 10 sources (see all 62):
    (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. (Eur. J. Biochem. 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. (Ann. Hum. Genet. 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. (Am. J. Hum. Genet. 2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 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. (Genome Res. 2004)
    6. Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle. (PubMed id 19752190)1, 9 Papalouka V....Sanoudou D. (Mol. Cell. Biol. 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. (J. Mol. Biol. 2006)
    8. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    9. Malignant progressive tumor cell clone exhibits significant up-regulation of cofilin-2 and 27-kDa modified form of cofilin-1 compared to regressive clone. (PubMed id 24023293)1 Kuramitsu Y....Nakamura K. (Anticancer Res. 2013)
    10. Biophysics of actin filament severing by cofilin. (PubMed id 23395798)1 Elam W.A....De la Cruz E.M. (FEBS Lett. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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