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Protein

Cofilin-2

Gene

CFL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000165410.14
HGNCiHGNC:1875 CFL2
MIMi601443 gene
neXtProtiNX_Q9Y281

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 7 (NEM7)2 Publications
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; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397515451EnsemblClinVar.1
Natural variantiVAR_03198935A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 PublicationCorresponds to variant dbSNP:rs80358250EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNETi1073
GeneReviewsiCFL2
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

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
ProteomicsDBi85686
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107500, 50 interactors
DIPiDIP-33178N
IntActiQ9Y281, 33 interactors
MINTiQ9Y281
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

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
InterProiView protein in InterPro
IPR002108 ADF-H
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR017904 ADF/Cofilin
PANTHERiPTHR11913 PTHR11913, 1 hit
PfamiView protein in Pfam
PF00241 Cofilin_ADF, 1 hit
PRINTSiPR00006 COFILIN
SMARTiView protein in SMART
SM00102 ADF, 1 hit
PROSITEiView protein in PROSITE
PS51263 ADF_H, 1 hit

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; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397515451EnsemblClinVar.1
Natural variantiVAR_03198935A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 PublicationCorresponds to variant dbSNP:rs80358250EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiCOF2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y281
Secondary accession number(s): G3V5P4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 174 of the entry and version 1 of the sequence. See 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

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