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CFL2 cofilin 2 [ Homo sapiens (human) ]

Gene ID: 1073, updated on 3-Nov-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
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Genomic context

See CFL2 in Genome Data Viewer
Location:
14q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (34709113..34714593, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (28908282..28913764, complement)
RS_2024_09 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

Related articles in PubMed

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)

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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_2024_08

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)