CFL2
Sign in to saveAlso known as NEM7, cofilin 2
Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.
Gene data
CFL2- Name
- cofilin 2
- Type
- protein-coding
- Position
- 34,709,113–34,714,823 (−)
- Aliases
- NEM7
- Ensembl
- ENSG00000165410
- RefSeq RNA
- NM_001243645.2, NM_021914.8, NM_138638.5, NR_028130.2, NR_028131.2
- RefSeq protein
- NP_001230574.1, NP_068733.1, NP_619579.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
cofilin 2
- Symbol
- CFL2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:34,707,001-34,714,946
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- PDB 1tvj EBI.png
Show 5 more facts
- HomoloGene ID
- 129115
- exact match
- identifiers.org/ncbigene/1073
- genomic end
- 35184029
- genomic start
- 34709113
- cytogenetic location
- 14q13.1
Sources (7)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
Cofilin 2 (muscle) also known as CFL2 is a protein which in humans is encoded by the CFL2 gene.
==Function== Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN), all of which regulate actin-filament dynamics. The CFL2 gene encodes a skeletal muscle-specific isoform localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins.