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    CFL2 cofilin 2 (muscle) [ Homo sapiens ]

    Gene ID: 1073, updated on 11-May-2012
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    Summary

    Official Symbol
    CFL2provided by HGNC
    Official Full Name
    cofilin 2 (muscle)provided by HGNC
    Primary source
    HGNC:1875
    See related
    Ensembl:ENSG00000165410; HPRD:03262; MIM:601443; Vega:OTTHUMG00000029536
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NEM7
    Summary
    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]
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    Genomic context

    Location :
    14q12
    Sequence :
    Chromosome: 14; NC_000014.8 (35179588..35184029, complement)
    See CFL2 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 pseudogene 3 Neighboring gene sorting nexin 6 Neighboring gene ribosomal protein L23a pseudogene 8 Neighboring gene ribosomal protein L12 pseudogene 6 Neighboring gene bromodomain adjacent to zinc finger domain, 1A Neighboring gene RNA, U7 small nuclear 41 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Remodeling of actin filaments by ADF/cofilin proteins. Galkin VE, et al. Proc Natl Acad Sci U S A, 2011 Dec 20. PMID 22158895.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Differential expression of up-regulated cofilin-1 and down-regulated cofilin-2 characteristic of pancreatic cancer tissues. Wang Y, et al. Oncol Rep, 2011 Dec. PMID 21894436.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Prolyl hydroxylase domain (PHD) 2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation. Vogel S, et al. J Biol Chem, 2010 Oct 29. PMID 20801873.

    See all (27) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the cofilin-induced change in the filament twist is due to a unique conformation of the actin molecule unrelated to any previously observed state
      Title: Remodeling of actin filaments by ADF/cofilin proteins.
    2. Differential expression of up-regulated cofilin-1 and down-regulated cofilin-2 characteristic of pancreatic cancer tissues
      Title: Differential expression of up-regulated cofilin-1 and down-regulated cofilin-2 characteristic of pancreatic cancer tissues.
    3. PHD2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation
      Title: Prolyl hydroxylase domain (PHD) 2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation.
    4. FXa-mediated sustained cofilin inactivation leads to stabilization of actin filaments incompatible with migration
      Title: Coagulation Factor Xa inhibits cancer cell migration via LIMK1-mediated cofilin inactivation.
    5. MLP binds directly to CFL2 in human cardiac and skeletal muscles.
      Title: Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.
    6. Resting T cells from infected patients carry significantly higher levels of active cofilin.
      Title: Cofilin activation in peripheral CD4 T cells of HIV-1 infected patients: a pilot study.
    7. actin depolymerizing factor/cofilins play an active role in establishing new interprotomer interfaces in F-actin that substitute for disrupted or weakened (as in ADP-actin) longitudinal contacts in filaments
      Title: Cofilin cross-bridges adjacent actin protomers and replaces part of the longitudinal F-actin interface.
    8. CFL2, encoding the actin-binding protein muscle cofilin-2, is mutated in two siblings with congenital myopathy.
      Title: Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Nemaline myopathy 7

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y281 P60709 ACTB    HPRD  PubMed  
    Q9Y281 P63261 ACTG1    HPRD  PubMed  
    Q9Y281 P53667 LIMK1    HPRD  PubMed  
    Q9Y281 Slingshot 1 SSH1    HPRD  PubMed  
    BioGRID:107500 BioGRID:106575 ACTB    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107500 BioGRID:106586 ACTG1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107500 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Pertussis, organism-specific biosystem (from KEGG)
      Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Pertussis, conserved biosystem (from KEGG)
      Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystem
      Regulation of Actin Cytoskeleton
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cofilin-2
    Names
    cofilin-2
    cofilin, muscle isoform
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012740.1 RefSeqGene

      Range
      5001..9442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243645.1 → NP_001230574.1  cofilin-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL355885, AL599958, DA298739
      UniProtKB/TrEMBL
      G3V5P4
      Conserved Domains (1) summary
      cd11286
      Location:10 – 136
      Blast Score: 352
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors.

    2. NM_021914.7 → NP_068733.1  cofilin-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate translational start codon, compared to variant 2, but the encoded isoform (1) is identical to that encoded by variant 2.
      Source sequence(s)
      AF134802, AL355885, DB378917
      Consensus CDS
      CCDS9650.1
      UniProtKB/TrEMBL
      Q549N0
      UniProtKB/Swiss-Prot
      Q9Y281
      Related
      ENSP00000340635, OTTHUMP00000178806, ENST00000341223, OTTHUMT00000276639
      Conserved Domains (1) summary
      cd11286
      Location:3 – 153
      Blast Score: 404
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors.

    3. NM_138638.4 → NP_619579.1  cofilin-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the functional protein. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL355885, BC022364, BC025683, DB378917
      Consensus CDS
      CCDS9649.1
      UniProtKB/TrEMBL
      Q549N0
      UniProtKB/Swiss-Prot
      Q9Y281
      Related
      ENSP00000298159, OTTHUMP00000178805, ENST00000298159, OTTHUMT00000276638
      Conserved Domains (1) summary
      cd11286
      Location:3 – 153
      Blast Score: 404
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors.

    RNA

    1. NR_028130.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL355885, BC025683, CB992605, DB378917

    2. NR_028131.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because only a short ORF would result from translation initiation at the supported start codon, as used in variant 2, and it is unclear if a downstream start codon could be used, which would also result in a short ORF.
      Source sequence(s)
      AL355885, BC025683, DB378917

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      35179588..35184029, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      15292957..15297397, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF242299.1 AAF64498.1
    genomic AF283513.1 AAF97934.1
    genomic AL355885.4 (21906..26305) None
    genomic CH471078.2 EAW65908.1
      EAW65910.1
      EAW65911.1
      EAW65912.1
    mRNA AF087867.1 AAM10495.1
    mRNA AF134802.1 AAD31280.1
    mRNA AF134803.1 AAD31281.1
    mRNA AI754134.1 None
    mRNA AK314157.1 BAG36842.1
    mRNA AL117457.1 None
    mRNA AL599958.1 None
    mRNA BC011444.1 AAH11444.1
    mRNA BC022364.1 AAH22364.1
    mRNA BC022876.1 AAH22876.1
    mRNA BC025683.1 None
    mRNA CB992605.1 None
    mRNA DA298739.1 None
    mRNA DA897112.1 None
    mRNA DB378917.1 None
    other-genetic EU832642.1 ACE87733.1
    other-genetic EU832719.1 ACE87051.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q549N0 GenPept UniProtKB/TrEMBL:Q549N0
    Q9Y281.1 GenPept UniProtKB/Swiss-Prot:Q9Y281
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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