RBCC Red Blood Cell Collection

COF2_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CFL2
Protein names and data: COF2_HUMAN , Cofilin-2 , Cofilin, muscle isoform Lenght: 166 a.a.
Mass: 18737 Da
fasta formatted sequence
Function: Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods (By similarity).
Disease: ( OMIM: 601443 610687 ) Nemaline myopathy 7 (NEM7) [MIM:610687]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus matrix (By similarity). Cytoplasm, cytoskeleton (By similarity).
Tissue specificity: Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.

Genetic variants

35 - 35 A -> T (in NEM7; protein is less soluble when expressed in Escherichia coli). VAR_031989
47 - 47 I -> M (in a breast cancer sample; somatic mutation). VAR_036458

Database cross-references

UniProt: Q9Y281
Ensembl: ENST00000298159
Ensembl: ENST00000341223
Ensembl: ENST00000555765
Ensembl: ENST00000556161
MIM: 601443
MIM: 610687
neXtProt: NX_Q9Y281
Antibodypedia: Q9Y281 (may not find the protein thus also not any antibody)
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