Gene Gene information from NCBI Gene database.
Entrez ID 1073
Gene name Cofilin 2
Gene symbol CFL2
Synonyms (NCBI Gene)
NEM7
Chromosome 14
Chromosome location 14q13.1
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 r
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs80358250 C>T Pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs149700171 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1555333797 A>T Likely-pathogenic Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1594784544 C>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1062
miRTarBase ID miRNA Experiments Reference
MIRT002475 hsa-miR-16-5p proteomics analysis 18362358
MIRT002526 hsa-miR-373-3p Microarray 15685193
MIRT019819 hsa-miR-375 Microarray 20215506
MIRT002526 hsa-miR-373-3p Microarray;Other 15685193
MIRT020703 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 24860983, 25910212, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005615 Component Extracellular space HDA 23580065
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601443 1875 ENSG00000165410
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y281
Protein name Cofilin-2 (Cofilin, muscle isoform)
Protein function Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3 (PubMed:19752190). It has the ability to bind G- and F-actin in a 1:1 ratio of c
PDB 7M0G , 7U8K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00241 Cofilin_ADF 11 152 Cofilin/tropomyosin-type actin-binding protein Domain
Tissue specificity TISSUE SPECIFICITY: Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.
Sequence
Sequence length 166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Pertussis
Human immunodeficiency virus 1 infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
135
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFL2-related disorder Pathogenic rs1885387438 RCV003416556
Nemaline myopathy 7 Pathogenic rs1885387438, rs2502579467, rs533833167, rs80358250, rs1594784544 RCV001919773
RCV002810619
RCV002971883
RCV000008638
RCV003511100
RCV000985133
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Centronuclear myopathy Conflicting classifications of pathogenicity rs1885381246 RCV004587091
Cholangiocarcinoma Benign rs35515423 RCV005869298
Gastric cancer Uncertain significance rs200536303 RCV005909075
Lung cancer Benign rs35515423 RCV005869299
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 30061737
Atrial Fibrillation Inhibit 37581400
Breast Neoplasms Associate 23497265, 26657485
Cardiomyopathies Associate 30061737
Cardiomyopathy Dilated Associate 32863228
Chromosome Aberrations Associate 22560515
Fatigue Associate 23324479
Glaucoma Open Angle Associate 39568137
Leiomyosarcoma Associate 19901961
Muscular Diseases Associate 38003645