U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    CFL2 cofilin 2 [ Homo sapiens (human) ]

    Gene ID: 1073, updated on 5-May-2024

    Summary

    Official Symbol
    CFL2provided by HGNC
    Official Full Name
    cofilin 2provided by HGNC
    Primary source
    HGNC:HGNC:1875
    See related
    Ensembl:ENSG00000165410 MIM:601443; AllianceGenome:HGNC:1875
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CFL2 in Genome Data Viewer
    Location:
    14q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (34709113..34714593, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (28908282..28913764, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35178319..35183799, 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 ATAC-STARR-seq lymphoblastoid silent region 5667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5668 Neighboring gene Sharpr-MPRA regulatory region 5589 Neighboring gene ribosomal protein L12 pseudogene 6 Neighboring gene bromodomain adjacent to zinc finger domain 1A Neighboring gene MPRA-validated peak2136 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr14:35306879-35307380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:35312782-35313282 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001243645.2NP_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, ENST00000555765.5
      Conserved Domains (1) summary
      cd11286
      Location:10136
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
    2. NM_021914.8NP_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
      G3V5P4, Q9Y281
      UniProtKB/TrEMBL
      Q549N0
      Related
      ENSP00000340635.3, ENST00000341223.8
      Conserved Domains (1) summary
      cd11286
      Location:3153
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
    3. NM_138638.5NP_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 longer isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL355885, BC022364, DB378917
      Consensus CDS
      CCDS9649.1
      UniProtKB/Swiss-Prot
      G3V5P4, Q9Y281
      UniProtKB/TrEMBL
      Q549N0
      Related
      ENSP00000298159.6, ENST00000298159.11
      Conserved Domains (1) summary
      cd11286
      Location:3153
      ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors

    RNA

    1. NR_028130.2 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, CB992605, DB378917
    2. NR_028131.2 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      34709113..34714593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      28908282..28913764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)