Cfl2 cofilin 2, muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfl2provided by MGI
Official Full Name: cofilin 2, muscleprovided by MGI
Primary source: MGI:MGI:101763
See related: Ensembl:ENSMUSG00000062929 AllianceGenome:MGI:101763
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables actin filament binding activity. Involved in actin filament fragmentation and skeletal muscle tissue development. Acts upstream of or within actin filament organization; muscle cell cellular homeostasis; and sarcomere organization. Predicted to be located in Z disc. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in heart ventricle; limb musculature; myotome; and neural retinal epithelium. Human ortholog(s) of this gene implicated in nemaline myopathy 7. Orthologous to human CFL2 (cofilin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 32.0), bladder adult (RPKM 27.8) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 23.75 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (54905602..54910065, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (54858815..54862877, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA TUG1 Exacerbates Myocardial Fibrosis in Diabetic Cardiomyopathy by Modulating the microRNA-145a-5p/Cfl2 Axis.
Title: LncRNA TUG1 Exacerbates Myocardial Fibrosis in Diabetic Cardiomyopathy by Modulating the microRNA-145a-5p/Cfl2 Axis.
Role of MiR-325-3p in the Regulation of CFL2 and Myogenic Differentiation of C2C12 Myoblasts.
Title: Role of MiR-325-3p in the Regulation of CFL2 and Myogenic Differentiation of C2C12 Myoblasts.
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
Title: Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
CFL2 is an essential mediator for myogenic differentiation in C2C12 myoblasts.
Title: CFL2 is an essential mediator for myogenic differentiation in C2C12 myoblasts.
Actin depolymerizing factor (ADF)/cofilin controls actin turnover to sustain axon regeneration after spinal cord injury through its actin-severing activity. This pinpoints ADF/cofilin as a key regulator of axon growth competence, irrespective of developmental stage.
Title: ADF/Cofilin-Mediated Actin Turnover Promotes Axon Regeneration in the Adult CNS.
Results provide strong evidence that muscle-type cofilin (or cofilin-2) plays a critical role in the formation and the maintenance of myofibril structure not only in skeletal muscle but also in cardiac muscle.
Title: Chimeric Mice with Deletion of Cfl2 that Encodes Muscle-Type Cofilin (MCF or Cofilin-2) Results in Defects of Striated Muscles, Both Skeletal and Cardiac Muscles.
These results indicated that the mouse CFL2 gene may be involved in the regulation of MyHC via the key signaling molecules of CFL2-related signaling pathways.
Title: Role of the cofilin 2 gene in regulating the myosin heavy chain genes in mouse myoblast C2C12 cells.
miR-301a regulates Cofilin-2 in vitro in NRVCM, and in vivo in Cs1-ko mice. Our findings provide an additional and important layer of Cfl2 regulation, which we believe has an extended role in cardiac signal transduction and dilated cardiomyopathy presumably due to the reported involvement of Cfl2 in these mechanisms.
Title: MicroRNA miR-301a is a novel cardiac regulator of Cofilin-2.
Vessel wall P2Y12 receptor, which promotes VSMCs migration through cofilin dephosphorylation, plays a critical role in the development of atherosclerotic lesions.
Title: P2Y(12) Promotes Migration of Vascular Smooth Muscle Cells Through Cofilin Dephosphorylation During Atherogenesis.
deficiency of cofilin-2 is associated with interruption of the cell cycle at several checkpoints, hindering muscle regeneration
Title: Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin filament depolymerization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in actin filament depolymerization	ISO Inferred from Sequence Orthology more info
involved_in actin filament fragmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament fragmentation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin filament depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	ISO Inferred from Sequence Orthology more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
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 cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cofilin-2

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.