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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 ... See more...
Aliases for CFL2 Gene
Aliases for CFL2 Gene
External Ids for CFL2 Gene
- HGNC: 1875
- NCBI Entrez Gene: 1073
- Ensembl: ENSG00000165410
- OMIM®: 601443
- UniProtKB/Swiss-Prot: Q9Y281
Previous GeneCards Identifiers for CFL2 Gene
- GC14M032557
- GC14M028967
- GC14M033169
- GC14M034249
- GC14M035179
- GC14M015292
Summaries for CFL2 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 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]
GeneCards Summary for CFL2 Gene
CFL2 (Cofilin 2) is a Protein Coding gene. Diseases associated with CFL2 include Nemaline Myopathy 7 and Typical Congenital Nemaline Myopathy. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL1.
UniProtKB/Swiss-Prot Summary for CFL2 Gene
-
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 cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity).
Additional gene information for CFL2 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFL2 Gene
Genomics for CFL2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CFL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CFL2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFL2
- Top Transcription factor binding sites by QIAGEN in the CFL2 gene promoter:
-
- FOXO1
- FOXO1a
- HNF-1
- HNF-1A
- Sox5
- STAT5B
Genomic Locations for CFL2 Gene
Latest Assembly
- chr14:34,709,113-34,714,823
- (GRCh38/hg38)
- Size:
- 5,711 bases
- Orientation:
- Minus strand
Previous Assembly
- chr14:35,178,319-35,183,799
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 5,481 bases
- Orientation:
- Minus strand
Genomic View for CFL2 Gene
Genes around CFL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q13.1 by HGNC
- 14q13.1 by Entrez Gene
- 14q13.1 by Ensembl
CFL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CFL2 Gene
Proteins for CFL2 Gene
-
Protein details for CFL2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y281-COF2_HUMAN
- Recommended name:
- Cofilin-2
- Protein Accession:
- Q9Y281
- G3V5P4
Protein attributes for CFL2 Gene
- Size:
- 166 amino acids
- Molecular mass:
- 18737 Da
- Quaternary structure:
-
- Interacts with CSRP3; possibly two molecules of CFL2 can interact with one molecule if CSRP3.
Protein Expression for CFL2 Gene
Post-translational modifications for CFL2 Gene
- The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
-
Ubiquitination at Lys13 and Lys144
- NX_Q9Y281 (NX_Q9Y281-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CFL2 Gene
Antibodies for research
- LifeSpan BioSciences CFL2 / Cofilin 2 Antibody (LS-B9191) and CFL2 / Cofilin 2 Antibody (LS-B16608)
- NSJ Bioreagents Cofilin 2 Antibody / CFL2
- Novus Biologicals Antibodies for CFL2
-
Abcam antibodies for CFL2
- Invitrogen Antibodies for CFL2 (AFLGC-CFL2)
-
Custom Antibody ServicesProSci Antibodies for CFL2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CFL2
- Sino Biological Antibodies for CFL2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CFL2
- Origene Custom Protein Services for CFL2
- Sino Biological Recombinant Proteins for CFL2
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for CFL2
-
Abcam proteins for CFL2
No data available for DME Specific Peptides for CFL2 Gene
Domains & Families for CFL2 Gene
Gene Families for CFL2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CFL2 Gene
- InterPro:
- Blocks:
-
- Actin-binding, cofilin/tropomyosin type
Suggested Antigen Peptide Sequences for CFL2 Gene
- GenScript: Design optimal peptide antigens:
-
- Cofilin, muscle isoform (COF2_HUMAN)
- cDNA, FLJ94864, Homo sapiens cofilin 2 (muscle) (CFL2), mRNA (Q549N0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y281- Family:
-
- Belongs to the actin-binding proteins ADF family.
Function for CFL2 Gene
Molecular function for CFL2 Gene
- UniProtKB/Swiss-Prot 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 cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity).
- GENATLAS Biochemistry:
- cofilin 2,actin-binding protein,muscle type,depolymerisation factor of F-actin to G-actin
Phenotypes From GWAS Catalog for CFL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0051015 | actin filament binding | IBA,ISS | -- |
Phenotypes for CFL2 Gene
- MGI mutant phenotypes for CFL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CFL2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- no effect
- Dynamic nuclei (hole, folded or small irregular)
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased hepcidin::fluc mRNA expression
- Weakly decreased NFAT1-GFP nuclear translocation
Animal Models for CFL2 Gene
- MGI Knock Outs for CFL2:
-
- Cfl2 Cfl2<tm1.1Itl>
Animal Models for research
-
Taconic Biosciences Mouse Models for CFL2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CFL2 - Starting at $85 >
- * CFL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CFL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFL2
miRNA for CFL2 Gene
- miRTarBase miRNAs that target CFL2
-
- hsa-miR-16-5p (MIRT002475)
- hsa-miR-373-3p (MIRT002526)
- mmu-miR-758-3p (MIRT007675)
- mmu-miR-324-3p (MIRT010881)
- mmu-miR-297a-5p (MIRT013151)
- hsa-miR-375 (MIRT019819)
- hsa-miR-155-5p (MIRT020703)
- hsa-miR-215-5p (MIRT024888)
- hsa-miR-192-5p (MIRT026396)
- hsa-miR-30c-5p (MIRT047949)
- hsa-let-7a-5p (MIRT052465)
- hsa-miR-200c-3p (MIRT054101)
- hsa-miR-3613-3p (MIRT114474)
- hsa-miR-511-3p (MIRT278336)
- hsa-miR-3192-3p (MIRT405783)
- hsa-miR-20a-5p (MIRT440953)
- hsa-miR-106b-5p (MIRT440955)
- hsa-miR-1294 (MIRT479297)
- hsa-miR-4710 (MIRT479298)
- hsa-miR-7158-5p (MIRT479299)
- hsa-miR-4736 (MIRT479300)
- hsa-miR-7854-3p (MIRT479301)
- hsa-miR-6134 (MIRT479302)
- hsa-miR-125a-3p (MIRT479303)
- hsa-miR-6893-5p (MIRT479304)
- hsa-miR-940 (MIRT479305)
- hsa-miR-6808-5p (MIRT479306)
- hsa-miR-3714 (MIRT479307)
- hsa-miR-7109-3p (MIRT479308)
- hsa-miR-548az-3p (MIRT479309)
- hsa-miR-1277-5p (MIRT512150)
- hsa-miR-297 (MIRT512151)
- hsa-miR-190a-3p (MIRT512152)
- hsa-miR-6867-5p (MIRT512153)
- hsa-miR-223-5p (MIRT512154)
- hsa-miR-567 (MIRT512155)
- hsa-miR-5011-5p (MIRT512156)
- hsa-miR-5580-3p (MIRT512157)
- hsa-miR-3941 (MIRT524482)
- hsa-miR-603 (MIRT524483)
- hsa-miR-362-3p (MIRT524484)
- hsa-miR-329-3p (MIRT524485)
- hsa-miR-8485 (MIRT524486)
- hsa-miR-4762-3p (MIRT558755)
- hsa-miR-548aw (MIRT558756)
- hsa-miR-4633-5p (MIRT558757)
- hsa-miR-1468-3p (MIRT558758)
- hsa-miR-548x-5p (MIRT558759)
- hsa-miR-548g-5p (MIRT558760)
- hsa-miR-548f-5p (MIRT558761)
- hsa-miR-548aj-5p (MIRT558762)
- hsa-miR-3151-3p (MIRT558763)
- hsa-miR-520h (MIRT558764)
- hsa-miR-520g-3p (MIRT558765)
- hsa-miR-519c-3p (MIRT558766)
- hsa-miR-519b-3p (MIRT558767)
- hsa-miR-519a-3p (MIRT558768)
- hsa-miR-454-3p (MIRT558769)
- hsa-miR-3666 (MIRT558770)
- hsa-miR-4295 (MIRT558771)
- hsa-miR-301b-3p (MIRT558772)
- hsa-miR-301a-3p (MIRT558773)
- hsa-miR-130b-3p (MIRT558774)
- hsa-miR-130a-3p (MIRT558775)
- hsa-miR-19a-3p (MIRT558776)
- hsa-miR-19b-3p (MIRT558777)
- hsa-miR-17-5p (MIRT558778)
- hsa-miR-526b-3p (MIRT558779)
- hsa-miR-519d-3p (MIRT558780)
- hsa-miR-20b-5p (MIRT558781)
- hsa-miR-106a-5p (MIRT558782)
- hsa-miR-93-5p (MIRT558783)
- hsa-miR-1295b-5p (MIRT762349)
- hsa-miR-1827 (MIRT763029)
- hsa-miR-1912 (MIRT763377)
- hsa-miR-4722-5p (MIRT771538)
- hsa-miR-6880-5p (MIRT780816)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CFL2
- Browse OriGene Inhibitory RNA Products For CFL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFL2
Clone products for research
- Applied Biological Materials (abm): Clones for CFL2 - Starting at $45 >
- * CFL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG201352
- MR201352
- MR201352L3
- MR201352L4
- RC205105
- RC205105L1
- RC205105L2
- RC205105L3
- RC205105L4
- RC222215
- RC222215L3
- RC222215L4
- RC231851
- RG205105
- RG222215
- RG231851
- RR207040
- RR207040L3
- RR207040L4
- MR201352L3V
- MR201352L4V
- RC205105L1V
- RC205105L2V
- RC205105L3V
- RC205105L4V
- RC222215L3V
- RC222215L4V
- RR207040L3V
- RR207040L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CFL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFL2
Cell Lines for research
-
Horizon Cell Lines for CFL2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CFL2 Gene
Localization for CFL2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CFL2 Gene
- Nucleus matrix. Cytoplasm, cytoskeleton. Note=Colocalizes with CSPR3 in the Z line of sarcomeres. {ECO:0000269 PubMed:19752190}.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytoskeleton | 4 |
| nucleus | 4 |
| cytosol | 4 |
| plasma membrane | 3 |
| mitochondrion | 3 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0015629 | actin cytoskeleton | IBA | 21873635 |
Pathways & Interactions for CFL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
CDC42 Pathway
.41
|
RhoA Pathway
.35
|
| 2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
|
Development MAG-dependent inhibition of neurite outgrowth
.42
|
| 3 | Regulation of actin cytoskeleton | ||
| 4 | Apoptotic Pathways in Synovial Fibroblasts |
Rac1 Pathway
.65
|
Actin-Based Motility by Rho Family GTPases
.62
|
| 5 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
|
Internalin Pathway
.31
|
Pathways by source for CFL2 Gene
1 Sino Biological pathway for CFL2 Gene
4 BioSystems pathways for CFL2 Gene
5 KEGG pathways for CFL2 Gene
10 GeneGo (Thomson Reuters) pathways for CFL2 Gene
- Cell adhesion Integrin-mediated cell adhesion and migration
- Cytoskeleton remodeling CDC42 in cellular processes
- Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
- Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
- Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
15 Qiagen pathways for CFL2 Gene
- Actin Nucleation and Branching
- Actin-Based Motility by Rho Family GTPases
- CCR3 Pathway in Eosinophils
- CDC42 Pathway
- EphrinA-EphR Signaling
Interacting Proteins for CFL2 Gene
Selected Interacting proteins:
Q9Y281-COF2_HUMAN
ENSP00000298159
for CFL2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CFL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007015 | actin filament organization | IEA | -- |
| GO:0007519 | skeletal muscle tissue development | IEA | -- |
| GO:0030042 | actin filament depolymerization | ISS | -- |
| GO:0030043 | actin filament fragmentation | IBA | 21873635 |
| GO:0030836 | positive regulation of actin filament depolymerization | IMP | 17160903 |
Transcripts for CFL2 Gene
mRNA/cDNA for CFL2 Gene
- 3 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000298159 4306 nts (view in UCSC)
- ENST00000341223 3125 nts (view in UCSC)
- ENST00000422678 1223 nts (view in UCSC)
- ENST00000554470 1387 nts (view in UCSC)
- ENST00000555765 632 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CFL2 - Starting at $85 >
- * CFL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CFL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFL2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CFL2
- Browse OriGene Inhibitory RNA Products For CFL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFL2
Clone products for research
- Applied Biological Materials (abm): Clones for CFL2 - Starting at $45 >
- * CFL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG201352
- MR201352
- MR201352L3
- MR201352L4
- RC205105
- RC205105L1
- RC205105L2
- RC205105L3
- RC205105L4
- RC222215
- RC222215L3
- RC222215L4
- RC231851
- RG205105
- RG222215
- RG231851
- RR207040
- RR207040L3
- RR207040L4
- MR201352L3V
- MR201352L4V
- RC205105L1V
- RC205105L2V
- RC205105L3V
- RC205105L4V
- RC222215L3V
- RC222215L4V
- RR207040L3V
- RR207040L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CFL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFL2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | · | 7g |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for CFL2 Gene
- GeneLoc Exon Structure for
- CFL2
Expression for CFL2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CFL2 Gene
This gene is overexpressed in Muscle - Skeletal (x7.6) and Heart - Left Ventricle (x4.3).
This gene is overexpressed in Saliva (16.8) and Colon muscle (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CFL2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFL2
SOURCE GeneReport for Unigene cluster for CFL2 Gene:
Hs.180141mRNA Expression by UniProt/SwissProt for CFL2 Gene:
Q9Y281-COF2_HUMAN
Tissue specificity:
Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.
Evidence on tissue expression from TISSUES for CFL2 Gene
- Muscle(4.8)
- Liver(4.6)
- Nervous system(4.4)
- Bone marrow(4.2)
- Heart(3.5)
- Skin(2.7)
- Kidney(2.5)
- Blood(2.4)
- Intestine(2.1)
- Stomach(2)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CFL2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
- mouth
- neck
- skull
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
Primer products for research
-
OriGene qPCR primer pairs for CFL2
-
OriGene qPCR primer pairs and template standards for CFL2
Gene Expression Assays for research
Orthologs for CFL2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CFL2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CFL2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CFL2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CFL2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Cfl2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cfl2 29 16 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CFL2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CFL2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cfl2 29 |
|
||
| Str.5581 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18832 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cfl2 29 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | COF1 29 30 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E00463g 29 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR235W 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ADF6 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0780400 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | adf1 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01587 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4636 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany |
- Species where no ortholog for CFL2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CFL2 Gene
- ENSEMBL:
- Gene Tree for CFL2 (if available)
- TreeFam:
- Gene Tree for CFL2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CFL2: view image
- Alliance of Genome Resources:
- Additional Orthologs for CFL2
Paralogs for CFL2 Gene
Variants for CFL2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFL2 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1001719 | Uncertain Significance: Nemaline myopathy 7 | 34,712,891(-) |
C/A NM_138638.5(CFL2):c.475G>T (p.Val159Phe) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1006980 | Uncertain Significance: Nemaline myopathy 7 | 34,713,093(-) |
T/A NM_138638.5(CFL2):c.355A>T (p.Ser119Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1017814 | Uncertain Significance: Nemaline myopathy 7 | 34,713,098(-) |
TA/T NM_138638.5(CFL2):c.349del (p.Tyr117fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
| 1030772 | Uncertain Significance: Nemaline myopathy 7 | 34,713,132(-) |
G/T NM_138638.5(CFL2):c.316C>A (p.Pro106Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 840465 | Uncertain Significance: Nemaline myopathy 7 | 34,713,548(-) |
G/C NM_138638.5(CFL2):c.17C>G (p.Thr6Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1041857 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.07;
1.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CFL2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFL2 Gene
Disorders for CFL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nemaline myopathy 7 |
|
|
| typical congenital nemaline myopathy |
|
|
| nemaline myopathy |
|
|
| myopathy |
|
|
| skeletal muscle disease |
|
|
Search CFL2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
COF2_HUMAN- 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. {ECO:0000269 PubMed:17160903, ECO:0000269 PubMed:22560515}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CFL2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CFL2 Gene
Publications for CFL2 Gene
- Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle. (PMID: 19752190) Papalouka V … Sanoudou D (Molecular and cellular biology 2009) 3 4 22
- Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (PMID: 17160903) Agrawal PB … Beggs AH (American journal of human genetics 2007) 3 4 72
- Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. (PMID: 11422377) Thirion C … Lochmüller H (European journal of biochemistry 2001) 3 4 22
- Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. (PMID: 8800436) Gillett GT … Povey S (Annals of human genetics 1996) 2 3 22
- Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (PMID: 22560515) Ockeloen CW … van Alfen N (Neuromuscular disorders : NMD 2012) 3 4
ExternalLinks
Products for CFL2 Gene
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Sources for CFL2 Gene
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