Seroatlas · Human Serome Atlas

CFL2

Cofilin-2

Also known as: COF2_HUMAN, NEM7

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y281
Gene
CFL2
Ensembl
ENSG00000165410
Chromosome
14
Canonical length
166 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

166 residues, UniProt reviewed canonical sequence.

>Q9Y281|CFL2
     1  MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE EAKQILVGDI
    61  GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS
   121  KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
675 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 675 nTPM
  • tongue: 641 nTPM
  • heart muscle: 349 nTPM
  • liver: 118 nTPM
  • blood vessel: 108 nTPM
  • smooth muscle: 107 nTPM

Single-cell type

  • smooth muscle cells: 374 nCPM
  • thymic myoid cells: 275 nCPM
  • decidual stromal cells: 195 nCPM
  • epididymal clear cells: 176 nCPM
  • myonuclei: 140 nCPM
  • alveolar cells type 1: 133 nCPM

Immune cell

  • memory B-cell: 4.9 nTPM
  • MAIT T-cell: 3.1 nTPM
  • naive B-cell: 3 nTPM
  • memory CD4 T-cell: 2.2 nTPM
  • memory CD8 T-cell: 2.1 nTPM
  • T-reg: 2.1 nTPM

Brain region

  • white matter: 195 nTPM
  • basal ganglia: 131 nTPM
  • cerebellum: 116 nTPM
  • pons: 112 nTPM
  • medulla oblongata: 110 nTPM
  • hypothalamus: 106 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFL2.

Disease | AllUniProt

Conditions CFL2 is implicated in, by any mechanism.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 163 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Nemaline myopathy 7
  • CFL2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.53
gnomAD pLI
0
gnomAD missense Z
1.61
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFL2 as an antibody target. Whether an autoantibody or antibody against CFL2 could matter depends on whether native CFL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CFL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CFL2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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