Human Gene CFL2 (ENST00000298159.11_7) from GENCODE V47lift37
  Description: cofilin 2, transcript variant 4 (from RefSeq NR_028131.2)
Gencode Transcript: ENST00000298159.11_7
Gencode Gene: ENSG00000165410.15_9
Transcript (Including UTRs)
   Position: hg19 chr14:35,178,319-35,183,799 Size: 5,481 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr14:35,182,071-35,183,746 Size: 1,676 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:35,178,319-35,183,799)mRNA (may differ from genome)Protein (166 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COF2_HUMAN
DESCRIPTION: RecName: Full=Cofilin-2; AltName: Full=Cofilin, muscle isoform;
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).
INTERACTION: P60709:ACTB; NbExp=2; IntAct=EBI-351218, EBI-353944; P63261:ACTG1; NbExp=2; IntAct=EBI-351218, EBI-351292;
SUBCELLULAR 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.
PTM: The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.
DISEASE: Defects in CFL2 are the cause of nemaline myopathy type 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-or rod-like 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.
SIMILARITY: Belongs to the actin-binding proteins ADF family.
SIMILARITY: Contains 1 ADF-H domain.
WEB RESOURCE: Name=Wikipedia; Note=Cofilin entry; URL="http://en.wikipedia.org/wiki/Cofilin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CFL2
Diseases sorted by gene-association score: nemaline myopathy 7, autosomal recessive* (1200), cfl2-related nemaline myopathy* (500), typical congenital nemaline myopathy* (157), nemaline myopathy (31), congenital myopathy (14), myopathy (14), congenital structural myopathy (6), congenital fiber-type disproportion (4), distal arthrogryposis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.61 RPKM in Muscle - Skeletal
Total median expression: 1319.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.9053-0.319 Picture PostScript Text
3' UTR -925.603752-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002108 - Actin-bd_cofilin/tropomyosin
IPR017904 - ADF/Cofilin/Destrin

Pfam Domains:
PF00241 - Cofilin/tropomyosin-type actin-binding protein

SCOP Domains:
55753 - Actin depolymerizing proteins

ModBase Predicted Comparative 3D Structure on Q9Y281
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0051015 actin filament binding

Biological Process:
GO:0007015 actin filament organization
GO:0007519 skeletal muscle tissue development
GO:0030042 actin filament depolymerization
GO:0030043 actin filament fragmentation
GO:0030836 positive regulation of actin filament depolymerization
GO:0045214 sarcomere organization
GO:0046716 muscle cell cellular homeostasis

Cellular Component:
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016363 nuclear matrix
GO:0030018 Z disc
GO:0031674 I band
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF209530 - JP 2014500723-A/17033: Polycomb-Associated Non-Coding RNAs.
AF134803 - Homo sapiens cofilin isoform 2 mRNA, complete cds.
AL117457 - Homo sapiens mRNA; cDNA DKFZp586L0317 (from clone DKFZp586L0317).
AF134802 - Homo sapiens cofilin isoform 1 mRNA, complete cds.
JD120196 - Sequence 101220 from Patent EP1572962.
JD184707 - Sequence 165731 from Patent EP1572962.
JD155319 - Sequence 136343 from Patent EP1572962.
JD260549 - Sequence 241573 from Patent EP1572962.
JD182039 - Sequence 163063 from Patent EP1572962.
LF329305 - JP 2014500723-A/136808: Polycomb-Associated Non-Coding RNAs.
JD182392 - Sequence 163416 from Patent EP1572962.
JD040045 - Sequence 21069 from Patent EP1572962.
JD166232 - Sequence 147256 from Patent EP1572962.
AF087867 - Homo sapiens cofilin isoform mRNA, complete cds.
BC025683 - Homo sapiens cofilin 2 (muscle), mRNA (cDNA clone IMAGE:5205098).
BC022876 - Homo sapiens cofilin 2 (muscle), mRNA (cDNA clone MGC:24566 IMAGE:4109108), complete cds.
BC022364 - Homo sapiens cofilin 2 (muscle), mRNA (cDNA clone MGC:23890 IMAGE:4730117), complete cds.
JD501526 - Sequence 482550 from Patent EP1572962.
JD563187 - Sequence 544211 from Patent EP1572962.
JD131933 - Sequence 112957 from Patent EP1572962.
JD086316 - Sequence 67340 from Patent EP1572962.
JD046850 - Sequence 27874 from Patent EP1572962.
BC011444 - Homo sapiens cofilin 2 (muscle), mRNA (cDNA clone MGC:13364 IMAGE:4245104), complete cds.
JD509137 - Sequence 490161 from Patent EP1572962.
JD069544 - Sequence 50568 from Patent EP1572962.
JD334001 - Sequence 315025 from Patent EP1572962.
LF329306 - JP 2014500723-A/136809: Polycomb-Associated Non-Coding RNAs.
JD171321 - Sequence 152345 from Patent EP1572962.
JD131080 - Sequence 112104 from Patent EP1572962.
JD284652 - Sequence 265676 from Patent EP1572962.
JD526661 - Sequence 507685 from Patent EP1572962.
EU832642 - Synthetic construct Homo sapiens clone HAIB:100067671; DKFZo008E0331 cofilin 2 (muscle) protein (CFL2) gene, encodes complete protein.
AK314157 - Homo sapiens cDNA, FLJ94864, Homo sapiens cofilin 2 (muscle) (CFL2), mRNA.
EU832719 - Synthetic construct Homo sapiens clone HAIB:100067748; DKFZo004E0332 cofilin 2 (muscle) protein (CFL2) gene, encodes complete protein.
LF329307 - JP 2014500723-A/136810: Polycomb-Associated Non-Coding RNAs.
MA564882 - JP 2018138019-A/136808: Polycomb-Associated Non-Coding RNAs.
MA564883 - JP 2018138019-A/136809: Polycomb-Associated Non-Coding RNAs.
MA564884 - JP 2018138019-A/136810: Polycomb-Associated Non-Coding RNAs.
MA445107 - JP 2018138019-A/17033: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: COF2_HUMAN, ENST00000298159.1, ENST00000298159.10, ENST00000298159.2, ENST00000298159.3, ENST00000298159.4, ENST00000298159.5, ENST00000298159.6, ENST00000298159.7, ENST00000298159.8, ENST00000298159.9, G3V5P4, NR_028131, Q9Y281, uc317mdf.1, uc317mdf.2
UCSC ID: ENST00000298159.11_7
RefSeq Accession: NM_138638.5
Protein: Q9Y281 (aka COF2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.