CFL2 cofilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFL2provided by HGNC
Official Full Name: cofilin 2provided by HGNC
Primary source: HGNC:HGNC:1875
See related: Ensembl:ENSG00000165410 MIM:601443; AllianceGenome:HGNC:1875
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEM7
Summary: 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]
Expression: Broad expression in heart (RPKM 93.3), prostate (RPKM 37.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (34709113..34714593, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (28908282..28913764, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (35178319..35183799, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
Title: Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
Magic angle spinning NMR structure of human cofilin-2 assembled on actin filaments reveals isoform-specific conformation and binding mode.
Title: Magic angle spinning NMR structure of human cofilin-2 assembled on actin filaments reveals isoform-specific conformation and binding mode.
Circ_0008673 regulates breast cancer malignancy by miR-153-3p/CFL2 axis.
Title: Circ_0008673 regulates breast cancer malignancy by miR-153-3p/CFL2 axis.
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
Title: Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
Phosphorylated cofilin-2 is more prone to oxidative modifications on Cys39 and favors amyloid fibril formation.
Title: Phosphorylated cofilin-2 is more prone to oxidative modifications on Cys39 and favors amyloid fibril formation.
LncRNA SOX2 overlapping transcript (SOX2-OT) expression was conspicuously elevated in prostate cancer (PC) tissues and cells. Silenced SOX2-OT could repress PC cell proliferation and migration. SOX2-OT bound with miR-369-3p and negatively correlated with miR-369-3p in PC. Cofilin 2 (CFL2) was found to be a downstream target gene of miR-369-3p.
Title: Long noncoding RNA SOX2-OT facilitates prostate cancer cell proliferation and migration via miR-369-3p/CFL2 axis.
These results identify cofilin as a key molecule that may be therapeutically targeted to restore T cell motility necessary for T cell tissue repopulation, immune reconstitution, and immune control of viremia.
Title: Cofilin hyperactivation in HIV infection and targeting the cofilin pathway using an anti-α(4)β(7) integrin antibody.
severe Congenital myopathies related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2, are reported.
Title: Expanding the histopathological spectrum of CFL2-related myopathies.
Here we report atomic-level characterization by magic angle spinning (MAS) NMR of the muscle isoform of human cofilin 2 (CFL2) bound to F-actin. We demonstrate that resonance assignments for the majority of atoms are readily accomplished and we derive the intermolecular interface between CFL2 and F-actin.
Title: Structural Analysis of Human Cofilin 2/Filamentous Actin Assemblies: Atomic-Resolution Insights from Magic Angle Spinning NMR Spectroscopy.
The secreted levels of the cofilin-2 protein in radioresistant NPC patients were significantly higher than those of radiosensitive cases.
Title: Cofilin-2 Acts as a Marker for Predicting Radiotherapy Response and Is a Potential Therapeutic Target in Nasopharyngeal Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nemaline myopathy 7 MedGen: C1853154 OMIM: 610687 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced phosphorylation of both LIMK1 and cofilin	PubMed
	env	Filamin-A-dependent activation of the RhoA-ROCK-LIMK-cofilin pathway is a major event in HIV-1 gp120-induced receptor clustering	PubMed
	env	HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization	PubMed
Nef	nef	HIV-1 Nef inactivates cofilin by inducing its hyperphosphorylation via association with PAK2 activity	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1319 (e-PCR)
- UniSTS:71171

D14S1319 (e-PCR)
- UniSTS:71172

D14S664E (e-PCR)
- UniSTS:151562

D14S1299 (e-PCR)
- UniSTS:48317

RH102370 (e-PCR)
- UniSTS:96704

EST14A7 (e-PCR)
- UniSTS:263108

RH44744 (e-PCR)
- UniSTS:81134

SHGC-132145 (e-PCR)
- UniSTS:182778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament depolymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament fragmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cofilin-2

Names: cofilin 2 (muscle); nemaline myopathy type 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012740.1 RefSeqGene

Range

5001..9442

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_213

mRNA and Protein(s)

NM_001243645.2 → NP_001230574.1 cofilin-2 isoform 2

See identical proteins and their annotated locations for NP_001230574.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL355885, AL599958, DA298739

Consensus CDS

CCDS58311.1

UniProtKB/Swiss-Prot

Q9Y281

Related

ENSP00000452451.1, ENST00000555765.5

Conserved Domains (1) summary

cd11286
Location:10 → 136

ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
NM_021914.8 → NP_068733.1 cofilin-2 isoform 1

See identical proteins and their annotated locations for NP_068733.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate translational start codon, compared to variant 2, but the encoded isoform (1) is identical to that encoded by variant 2.

Source sequence(s)

AF134802, AL355885, DB378917

Consensus CDS

CCDS9650.1

UniProtKB/Swiss-Prot

G3V5P4, Q9Y281

UniProtKB/TrEMBL

Q549N0

Related

ENSP00000340635.3, ENST00000341223.8

Conserved Domains (1) summary

cd11286
Location:3 → 153

ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors
NM_138638.5 → NP_619579.1 cofilin-2 isoform 1

See identical proteins and their annotated locations for NP_619579.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AL355885, BC022364, DB378917

Consensus CDS

CCDS9649.1

UniProtKB/Swiss-Prot

G3V5P4, Q9Y281

UniProtKB/TrEMBL

Q549N0

Related

ENSP00000298159.6, ENST00000298159.11

Conserved Domains (1) summary

cd11286
Location:3 → 153

ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors

RNA

NR_028130.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL355885, CB992605, DB378917
NR_028131.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because only a short ORF would result from translation initiation at the supported start codon, as used in variant 2, and it is unclear if a downstream start codon could be used, which would also result in a short ORF.

Source sequence(s)

AL355885, BC025683, DB378917