CFL2 (cofilin 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1073
Gene name Gene Name - the full gene name approved by the HGNC.
Cofilin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFL2
Synonyms (NCBI Gene) Gene synonyms aliases
NEM7
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601443 1875 ENSG00000165410
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Axon guidance
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Pertussis
Human immunodeficiency virus 1 infection 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nemaline myopathy nemaline myopathy 7 rs80358250, rs1594784544 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Takayasu Arteritis Takayasu arteritis N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease 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