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CFL2 cofilin 2 [ Homo sapiens (human) ]

Gene ID: 1073, updated on 12-Aug-2018

Summary

Official Symbol
CFL2provided by HGNC
Official Full Name
cofilin 2provided by HGNC
Primary source
HGNC:HGNC:1875
See related
Ensembl:ENSG00000165410 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]
Expression
Broad expression in heart (RPKM 93.3), prostate (RPKM 37.0) and 21 other tissues See more
Orthologs

Genomic context

See CFL2 in Genome Data Viewer
Location:
14q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, U6 small nuclear 1261, pseudogene Neighboring gene uncharacterized LOC107984628 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 Interaction Database

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...
  • 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 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament depolymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament fragmentation IEA
Inferred from Electronic Annotation
more info
 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament depolymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomere organization IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cofilin-2
Names
cofilin 2 (muscle)
cofilin, muscle isoform
nemaline myopathy type 7

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), LRG_213

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000452451.1, OTTHUMP00000244201, ENST00000555765.5, OTTHUMT00000409934
    Conserved Domains (1) summary
    cd11286
    Location:10136
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
  2. NM_021914.7NP_068733.1  cofilin-2 isoform 1

    See identical proteins and their annotated locations for 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/Swiss-Prot
    Q9Y281
    UniProtKB/TrEMBL
    Q549N0
    Related
    ENSP00000340635.3, OTTHUMP00000178806, ENST00000341223.7, OTTHUMT00000276639
    Conserved Domains (1) summary
    cd11286
    Location:3153
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
  3. NM_138638.4NP_619579.1  cofilin-2 isoform 1

    See identical proteins and their annotated locations for 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/Swiss-Prot
    Q9Y281
    UniProtKB/TrEMBL
    Q549N0
    Related
    ENSP00000298159.6, OTTHUMP00000178805, ENST00000298159.10, OTTHUMT00000276638
    Conserved Domains (1) summary
    cd11286
    Location:3153
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536363.3XP_011534665.1  cofilin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534665.1

    UniProtKB/Swiss-Prot
    Q9Y281
    Related
    ENSP00000452188.1, OTTHUMP00000244200, ENST00000556161.1
    Conserved Domains (1) summary
    cd11286
    Location:10136
    ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
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