• Gene id: 1073

Gene Summary

• Gene Symbol: CFL2   Gene   UCSC   Ensembl
• Aliases: NEM7
• Gene name: cofilin 2
• Alternate names: cofilin-2, cofilin 2 (muscle), cofilin, muscle isoform, nemaline myopathy type 7,
• Gene location: 14q13.1 (34428175: 34471250)     Exons: 18     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 601443

SNPs

rs11531577

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100180604G>T
NC_000007.13   g.99778227G>T
NG_034114.1   g.7881G>T
NM_012447.4   c.48G>T
NM_012447.3   c.48G>T
NM_012447.2   c.48G>T
NM_001282718.2   c.48G>T
NM_001282718.1   c.48G>T
NM_001282717.1   c.48G>T
NM_001282716.1   c.48G>T
XM_017011683.2   c.48G>

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

Protein Summary

• Protein general information: Q9Y281  
  • Name: Cofilin 2 (Cofilin, muscle isoform)
  • Length: 166  
  • Mass: 18737
  • Tissue specificity: Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.
• Sequence:

  MASGVTVNDEVIKVFNDMKVRKSSTQEEIKKRKKAVLFCLSDDKRQIIVEEAKQILVGDIGDTVEDPYTSFVKLL
  PLNDCRYALYDATYETKESKKEDLVFIFWAPESAPLKSKMIYASSKDAIKKKFTGIKHEWQVNGLDDIKDRSTLG
  EKLGGNVVVSLEGKPL

• Structural information:
  • Protein Domains: (4..15-)
    (/note="ADF-H-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00599"-)
  • Interpro: IPR002108  IPR029006  IPR017904  
  • Prosite: PS51263
  • CDD: cd11286
  • DIP: 33178
  • STRING: ENSP00000298159
• Other Databases: GeneCards:  CFL2  Malacards:  CFL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0048870	cell motility	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030042	actin filament depolymerization	IBA	biological process
GO:0030043	actin filament fragmentation	IBA	biological process
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0030042	actin filament depolymerization	IDA	biological process
GO:0030018	Z disc	IDA	cellular component
GO:0051015	actin filament binding	ISS	molecular function
GO:0030042	actin filament depolymerization	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030042	actin filament depolymerization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030043	actin filament fragmentation	IEA	biological process
GO:0030042	actin filament depolymerization	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031674	I band	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030836	positive regulation of actin filament depolymerization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa04666	Fc gamma R-mediated phagocytosis
hsa05133	Pertussis

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray