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Protein

Cofilin-2

Gene

CFL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165410-MONOMER.
SIGNORiQ9Y281.

Names & Taxonomyi

Protein namesi
Recommended name:
Cofilin-2
Alternative name(s):
Cofilin, muscle isoform
Gene namesi
Name:CFL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:1875. CFL2.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: InterPro
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • I band Source: UniProtKB
  • nuclear matrix Source: UniProtKB-SubCell
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 7 (NEM7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610687
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0759837V → M in NEM7. 1 PublicationCorresponds to variant rs397515451dbSNPEnsembl.1
Natural variantiVAR_03198935A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 PublicationCorresponds to variant rs80358250dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNETi1073.
MalaCardsiCFL2.
MIMi610687. phenotype.
OpenTargetsiENSG00000165410.
Orphaneti171436. Typical nemaline myopathy.
PharmGKBiPA26424.

Polymorphism and mutation databases

BioMutaiCFL2.
DMDMi6831517.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00002149072 – 166Cofilin-2Add BLAST165

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei3PhosphoserineCombined sources1
Modified residuei6PhosphothreonineBy similarity1
Modified residuei19N6-acetyllysineBy similarity1

Post-translational modificationi

The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y281.
PaxDbiQ9Y281.
PeptideAtlasiQ9Y281.
PRIDEiQ9Y281.
TopDownProteomicsiQ9Y281-1. [Q9Y281-1]

PTM databases

iPTMnetiQ9Y281.
PhosphoSitePlusiQ9Y281.
SwissPalmiQ9Y281.

Expressioni

Tissue specificityi

Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.

Gene expression databases

BgeeiENSG00000165410.
CleanExiHS_CFL2.
ExpressionAtlasiQ9Y281. baseline and differential.
GenevisibleiQ9Y281. HS.

Organism-specific databases

HPAiCAB037078.
HPA045599.

Interactioni

Subunit structurei

Interacts with CSRP3; possibly two molecules of CFL2 can interact with one molecule if CSRP3.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTBP607095EBI-351218,EBI-353944
ACTG1P632614EBI-351218,EBI-351292
CSRP3P504612EBI-351218,EBI-5658719

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107500. 48 interactors.
DIPiDIP-33178N.
IntActiQ9Y281. 26 interactors.
MINTiMINT-1161448.
STRINGi9606.ENSP00000298159.

Structurei

3D structure databases

ProteinModelPortaliQ9Y281.
SMRiQ9Y281.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 153ADF-HPROSITE-ProRule annotationAdd BLAST150

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 55Interaction with CSRP31 PublicationAdd BLAST54
Regioni55 – 105Interaction with CSRP31 PublicationAdd BLAST51

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi30 – 34Nuclear localization signalSequence analysis5

Sequence similaritiesi

Belongs to the actin-binding proteins ADF family.Curated
Contains 1 ADF-H domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1735. Eukaryota.
ENOG41122P5. LUCA.
GeneTreeiENSGT00440000033289.
HOGENOMiHOG000039697.
HOVERGENiHBG000381.
InParanoidiQ9Y281.
KOiK05765.
OMAiGLYDATY.
OrthoDBiEOG091G0PWC.
PhylomeDBiQ9Y281.
TreeFamiTF328601.

Family and domain databases

CDDicd11286. ADF_cofilin_like. 1 hit.
Gene3Di3.40.20.10. 1 hit.
InterProiIPR002108. ADF-H.
IPR029006. ADF-H/Gelsolin-like_dom.
IPR017904. ADF/Cofilin.
[Graphical view]
PANTHERiPTHR11913. PTHR11913. 1 hit.
PfamiPF00241. Cofilin_ADF. 1 hit.
[Graphical view]
PRINTSiPR00006. COFILIN.
SMARTiSM00102. ADF. 1 hit.
[Graphical view]
PROSITEiPS51263. ADF_H. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Isoforms are identical at the level of the protein sequence.
Isoform CFL2b (identifier: Q9Y281-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE
60 70 80 90 100
EAKQILVGDI GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV
110 120 130 140 150
FIFWAPESAP LKSKMIYASS KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG
160
EKLGGNVVVS LEGKPL
Length:166
Mass (Da):18,737
Last modified:November 1, 1999 - v1
Checksum:i48B6CDCCAE9FE1CC
GO
Isoform CFL2a (identifier: Q9Y281-2)
Sequence is not available
Length:
Mass (Da):
Isoform 3 (identifier: Q9Y281-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.

Note: Gene prediction based on EST data.
Show »
Length:149
Mass (Da):16,917
Checksum:i208CA2A540FB2A78
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0759837V → M in NEM7. 1 PublicationCorresponds to variant rs397515451dbSNPEnsembl.1
Natural variantiVAR_03198935A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 PublicationCorresponds to variant rs80358250dbSNPEnsembl.1
Natural variantiVAR_03645847I → M in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468311 – 17Missing in isoform 3. CuratedAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF134802 mRNA. Translation: AAD31280.1.
AF134803 mRNA. Translation: AAD31281.1.
AF283513 Genomic DNA. Translation: AAF97934.1.
AF242299 Genomic DNA. Translation: AAF64498.1.
AL355885 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65912.1.
BC011444 mRNA. Translation: AAH11444.1.
BC022364 mRNA. Translation: AAH22364.1.
BC022876 mRNA. Translation: AAH22876.1.
CCDSiCCDS58311.1. [Q9Y281-3]
CCDS9649.1. [Q9Y281-1]
CCDS9650.1. [Q9Y281-1]
RefSeqiNP_001230574.1. NM_001243645.1. [Q9Y281-3]
NP_068733.1. NM_021914.7. [Q9Y281-1]
NP_619579.1. NM_138638.4. [Q9Y281-1]
XP_011534665.1. XM_011536363.2. [Q9Y281-3]
UniGeneiHs.180141.

Genome annotation databases

EnsembliENST00000298159; ENSP00000298159; ENSG00000165410. [Q9Y281-1]
ENST00000341223; ENSP00000340635; ENSG00000165410. [Q9Y281-1]
ENST00000555765; ENSP00000452451; ENSG00000165410. [Q9Y281-3]
ENST00000556161; ENSP00000452188; ENSG00000165410. [Q9Y281-3]
GeneIDi1073.
KEGGihsa:1073.
UCSCiuc001wsg.4. human. [Q9Y281-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Cofilin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF134802 mRNA. Translation: AAD31280.1.
AF134803 mRNA. Translation: AAD31281.1.
AF283513 Genomic DNA. Translation: AAF97934.1.
AF242299 Genomic DNA. Translation: AAF64498.1.
AL355885 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65912.1.
BC011444 mRNA. Translation: AAH11444.1.
BC022364 mRNA. Translation: AAH22364.1.
BC022876 mRNA. Translation: AAH22876.1.
CCDSiCCDS58311.1. [Q9Y281-3]
CCDS9649.1. [Q9Y281-1]
CCDS9650.1. [Q9Y281-1]
RefSeqiNP_001230574.1. NM_001243645.1. [Q9Y281-3]
NP_068733.1. NM_021914.7. [Q9Y281-1]
NP_619579.1. NM_138638.4. [Q9Y281-1]
XP_011534665.1. XM_011536363.2. [Q9Y281-3]
UniGeneiHs.180141.

3D structure databases

ProteinModelPortaliQ9Y281.
SMRiQ9Y281.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107500. 48 interactors.
DIPiDIP-33178N.
IntActiQ9Y281. 26 interactors.
MINTiMINT-1161448.
STRINGi9606.ENSP00000298159.

PTM databases

iPTMnetiQ9Y281.
PhosphoSitePlusiQ9Y281.
SwissPalmiQ9Y281.

Polymorphism and mutation databases

BioMutaiCFL2.
DMDMi6831517.

Proteomic databases

EPDiQ9Y281.
PaxDbiQ9Y281.
PeptideAtlasiQ9Y281.
PRIDEiQ9Y281.
TopDownProteomicsiQ9Y281-1. [Q9Y281-1]

Protocols and materials databases

DNASUi1073.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298159; ENSP00000298159; ENSG00000165410. [Q9Y281-1]
ENST00000341223; ENSP00000340635; ENSG00000165410. [Q9Y281-1]
ENST00000555765; ENSP00000452451; ENSG00000165410. [Q9Y281-3]
ENST00000556161; ENSP00000452188; ENSG00000165410. [Q9Y281-3]
GeneIDi1073.
KEGGihsa:1073.
UCSCiuc001wsg.4. human. [Q9Y281-1]

Organism-specific databases

CTDi1073.
DisGeNETi1073.
GeneCardsiCFL2.
GeneReviewsiCFL2.
HGNCiHGNC:1875. CFL2.
HPAiCAB037078.
HPA045599.
MalaCardsiCFL2.
MIMi601443. gene.
610687. phenotype.
neXtProtiNX_Q9Y281.
OpenTargetsiENSG00000165410.
Orphaneti171436. Typical nemaline myopathy.
PharmGKBiPA26424.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1735. Eukaryota.
ENOG41122P5. LUCA.
GeneTreeiENSGT00440000033289.
HOGENOMiHOG000039697.
HOVERGENiHBG000381.
InParanoidiQ9Y281.
KOiK05765.
OMAiGLYDATY.
OrthoDBiEOG091G0PWC.
PhylomeDBiQ9Y281.
TreeFamiTF328601.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165410-MONOMER.
SIGNORiQ9Y281.

Miscellaneous databases

ChiTaRSiCFL2. human.
GeneWikiiCFL2_(gene).
GenomeRNAii1073.
PROiQ9Y281.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165410.
CleanExiHS_CFL2.
ExpressionAtlasiQ9Y281. baseline and differential.
GenevisibleiQ9Y281. HS.

Family and domain databases

CDDicd11286. ADF_cofilin_like. 1 hit.
Gene3Di3.40.20.10. 1 hit.
InterProiIPR002108. ADF-H.
IPR029006. ADF-H/Gelsolin-like_dom.
IPR017904. ADF/Cofilin.
[Graphical view]
PANTHERiPTHR11913. PTHR11913. 1 hit.
PfamiPF00241. Cofilin_ADF. 1 hit.
[Graphical view]
PRINTSiPR00006. COFILIN.
SMARTiSM00102. ADF. 1 hit.
[Graphical view]
PROSITEiPS51263. ADF_H. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOF2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y281
Secondary accession number(s): G3V5P4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 164 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.