Aliases for CFL2 Gene
Aliases for CFL2 Gene
External Ids for CFL2 Gene
- HGNC: 1875
- Entrez Gene: 1073
- Ensembl: ENSG00000165410
- OMIM: 601443
- UniProtKB: 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 ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL1.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for CFL2 at DataMed
- Search for CFL2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFL2 Gene
Genomics for CFL2 Gene
GeneHancer (GH) Regulatory Elements for CFL2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CFL2 gene promoter:
-
- STAT5B
- HNF-1A
- Sox5
- HNF-1
- FOXO1a
- FOXO1
Regulatory Element Products
Genomic Locations for CFL2 Gene
Genomic Locations for CFL2 Gene
- chr14:34,706,769-34,714,823
- (GRCh38/hg38)
- Size:
- 8,055 bases
- Orientation:
- Minus strand
- chr14:35,179,588-35,184,029
- (GRCh37/hg19)
- Size:
- 4,442 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 Entrez Gene
- 14q13.1 by HGNC
- 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 posLast=144144 and posLast=1313
- Modification sites at PhosphoSitePlus
Other Protein References for CFL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CFL2
-
Abcam antibodies for CFL2
- Invitrogen Antibodies for CFL2 (AFLGC-CFL2)
- GeneTex CFL2 Antibody for CFL2
-
Boster Bio Antibodies for CFL2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CFL2
- Sino Biological Antibodies for CFL2
Protein Products
- 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
- Search GeneTex for 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for CFL2 Gene
- GenScript: Design optimal peptide antigens:
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:0005515 | protein binding | IPI | 16189514 |
| GO:0051015 | actin filament binding | ISS | -- |
Phenotypes for CFL2 Gene
- MGI mutant phenotypes for CFL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CFL2:
Animal Models for CFL2 Gene
- MGI Knock Outs for CFL2:
-
- Cfl2 Cfl2<tm1.1Itl>
Animal Model Products
-
Taconic Biosciences Mouse Models for CFL2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CFL2
-
CRISPR Products
-
OriGene CRISPR knockouts for CFL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFL2
- genomics-online: gRNA clones - Search results for 138 available Cofilin 2 gene related products
- Overview of 138 available Cofilin 2 gene related products
- Applied Biological Materials CRISPR for CFL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFL2
- GenScript: Design CRISPR guide RNA sequences for CFL2
miRNA for CFL2 Gene
- miRTarBase miRNAs that target CFL2
-
- hsa-mir-16-5p (MIRT002475)
- hsa-mir-373-3p (MIRT002526)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 138 available Cofilin 2 gene related products
- Overview of 138 available Cofilin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CFL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFL2
- Applied Biological Materials Clones for CFL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 | 5 |
| nucleus | 4 |
| cytosol | 4 |
| cytoskeleton | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for CFL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Actin Nucleation by ARP-WASP Complex |
.41
|
.35
|
| 2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases | ||
| 3 | Regulation of actin cytoskeleton | ||
| 4 | Apoptotic Pathways in Synovial Fibroblasts |
.65
|
|
| 5 | fMLP Pathway | ||
Pathways by source for CFL2 Gene
1 Sino Biological pathway for CFL2 Gene
4 BioSystems pathways for CFL2 Gene
4 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
Interacting Proteins for CFL2 Gene
Selected Interacting proteins:
Q9Y281-COF2_HUMAN
ENSP00000298159
for CFL2 Gene via
MINT
STRING
UniProtKB
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 | IEA | -- |
| GO:0030836 | positive regulation of actin filament depolymerization | IMP | 17160903 |
Transcripts for CFL2 Gene
mRNA/cDNA for CFL2 Gene
- (4) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (344) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000298159 6747 bps (uc001wsh.4)
- ENST00000341223 3131 bps (uc001wsg.4)
- ENST00000554470 1387 bps (uc059asc.1)
- ENST00000422678 1223 bps (uc059asd.1)
- ENST00000555765 632 bps (uc010tpn.2)
CRISPR Products
-
OriGene CRISPR knockouts for CFL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFL2
- genomics-online: gRNA clones - Search results for 138 available Cofilin 2 gene related products
- Overview of 138 available Cofilin 2 gene related products
- Applied Biological Materials CRISPR for CFL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFL2
- GenScript: Design CRISPR guide RNA sequences for CFL2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 138 available Cofilin 2 gene related products
- Overview of 138 available Cofilin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CFL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFL2
- Applied Biological Materials Clones for CFL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of CFL2 Gene:
CFL2SOURCE 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(4.5)
- Bone marrow(4.2)
- Nervous system(4.2)
- Heart(3.3)
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
-
OriGene qPCR primer pairs for CFL2
-
OriGene qPCR primer pairs and template standards for CFL2
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CFL2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CFL2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CFL2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Cfl2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cfl2 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | CFL2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CFL2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cfl2 33 |
|
||
| Str.5581 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18832 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cfl2 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | COF1 34 33 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E00463g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR235W 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ADF6 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0780400 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | adf1 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01587 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4636 34 |
|
ManyToMany | |
| -- 34 |
|
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 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
Paralogs for CFL2 Gene
Variants for CFL2 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1044434779 | uncertain-significance, Nemaline Myopathy, Recessive | 34,712,147(-) | T/C | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1057523939 | likely-benign, not specified, Nemaline myopathy 7 | 34,713,310(-) | G/A | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs115050412 | likely-benign, Nemaline Myopathy, Recessive | 34,712,830(-) | G/A/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs11539496 | benign, Nemaline Myopathy, Recessive | 34,711,940(-) | A/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs116651711 | likely-benign, Nemaline Myopathy, Recessive | 34,712,456(-) | A/C/G | 3_prime_UTR_variant, non_coding_transcript_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFL2 Gene
Disorders for CFL2 Gene
(6) MalaCards diseases for CFL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nemaline myopathy 7 |
|
|
| typical congenital nemaline myopathy |
|
|
| nemaline myopathy |
|
|
| myopathy |
|
|
| congenital structural myopathy |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for CFL2
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 58
- 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 58
- 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 58
- 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 58
- 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 58
Products for CFL2 Gene
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- antibodies-online: Search results for 94 available Cofilin 2 Antibodies ranked by validation data
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- GeneTex CFL2 Antibody for CFL2
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- genomics-online: cdna clones - Search results for 138 available Cofilin 2 gene related products
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- Boster Bio Antibodies for CFL2
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Sources for CFL2 Gene
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