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CFL2 cofilin 2 (muscle) [ Homo sapiens (human) ]

Gene ID: 1073, updated on 7-Aug-2014
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]
See CFL2 in Epigenomics, MapViewer
Location:
14q12
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (34710382..34714823, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35179588..35184029, complement)

Chromosome 14 - NC_000014.9Genomic 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced phosphorylation of both LIMK1 and cofilin PubMed
env Filamin-A-dependent activation of the RhoA-ROCK-LIMK-cofilin pathway is a major event in HIV-1 gp120-induced receptor clustering PubMed
env HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization PubMed
Nef nef HIV-1 Nef inactivates cofilin by inducing its hyperphosphorylation via association with PAK2 activity PubMed
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

  • 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...
  • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
    Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
  • 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 biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of Microtubule Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Microtubule Cytoskeleton, organism-specific biosystem
    Regulation of Microtubule 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 
Process Evidence Code Pubs
actin filament depolymerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cofilin-2
Names
cofilin-2
cofilin, muscle isoform
nemaline myopathy type 7

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 

    Range
    5001..9442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_213

mRNA and Protein(s)

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

    See proteins identical to NP_001230574.1

    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
    Consensus CDS
    CCDS58311.1
    UniProtKB/Swiss-Prot
    Q9Y281
    Conserved Domains (1) summary
    cd11286
    Location:10136
    Blast Score: 357
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
  2. NM_021914.7NP_068733.1  cofilin-2 isoform 1

    See proteins identical to NP_068733.1

    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:3153
    Blast Score: 409
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
  3. NM_138638.4NP_619579.1  cofilin-2 isoform 1

    See proteins identical to NP_619579.1

    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:3153
    Blast Score: 409
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors

RNA

  1. NR_028130.1 RNA Sequence

    Status: REVIEWED

    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

    Status: REVIEWED

    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    34710382..34714823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    35178338..35182776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)