CFL2 - cofilin 2 Gene

Also Known as NEM7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1073

About CFL2

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,709,113-34,714,593 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in heart (RPKM 93.3), prostate (RPKM 37.0) and 21 other tissues.

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]

CFL2 Products (3)

mRNA	Protein	Name
NM_001243645.2	NP_001230574.1	cofilin-2 isoform 2
NM_021914.8	NP_068733.1	cofilin-2 isoform 1
NM_138638.5	NP_619579.1	cofilin-2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament depolymerization	IDA IDA: Inferred from direct assay	19752190	GOA
involved in positive regulation of actin filament depolymerization	IMP IMP: Inferred from mutant phenotype	17160903	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in I band	IDA IDA: Inferred from direct assay	17160903	GOA
located in Z disc	IDA IDA: Inferred from direct assay	19752190	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFL2 Protein Structure

Cofilin_ADF

0
100
166 a.a.

Protein Preferred Names	Protein Names
cofilin-2	cofilin 2 (muscle)

CFL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CFL2	Q9Y281	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	CFL2	Q9Y281	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	CFL2	Q9Y281	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	CFL2	Q9Y281	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	CFL2	Q9Y281	TRIM7	Homo sapiens	Q9C029	Y2H Prey Pooling	32296183
Intra	CFL2	Q9Y281	TRIM7	Homo sapiens	Q9C029	Y2H Array	32296183
Intra	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Pull Down	16189514
Intra	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Y2H Array	32296183
Intra	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Y2H Prey Pooling	32296183
Intra	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H	21516116
Intra	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H Array	31515488
Intra	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Pull Down	16189514
Intra	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H Pooling	16189514
Intra	CFL2	Q9Y281	CSRP3	Homo sapiens	P50461	Far-WB	24860983
Intra	CFL2	Q9Y281	RAB2A	Homo sapiens	P61019	Y2H Prey Pooling	32296183
Intra	CFL2	Q9Y281	RAB2A	Homo sapiens	P61019	Y2H Array	32296183
Intra	CFL2	Q9Y281	POT1	Homo sapiens	Q9NUX5	Y2H Array	32296183
Intra	CFL2	Q9Y281	POT1	Homo sapiens	Q9NUX5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CFL2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74234	Cofilin-2 Protein, Human (His)	Q9Y281-1 (A2-L166)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Nemaline Myopathy 7	NEM7 Nemaline Myopathy 7, Autosomal Recessive Cfl2-Related Nemaline Myopathy Myopathy, Nemaline, Type 7
Typical Congenital Nemaline Myopathy	Typical Nemaline Myopathy
Myopathy	Muscular Diseases Myopathies
Congenital Structural Myopathy
Cylindrical Spirals Myopathy	Myotonic Myopathy With Cylindrical Spirals
Cardiomyopathy, Dilated, 2a	Dilated Cardiomyopathy 2a CMD2A Cardiomyopathy, Dilated, Autosomal Recessive Cardiomyopathy, Congestive, Autosomal Recessive Cardiomyopathy, Dilated 2a Cardiomyopathy, Dilated, Type 2a Autosomal Recessive Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1ff	Dilated Cardiomyopathy 1ff CMD1FF Cardiomyopathy, Dilated 1ff Cardiomyopathy, Dilated, Type 1ff
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02569	CFL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19883	Cfl2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26382	Cfl2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CFL2	VGNC	VGNC:39177
Bos taurus	CFL2	VGNC	VGNC:27254
Felis catus	CFL2	VGNC	VGNC:97380
Mus musculus	CFL2	MGD	MGI:101763
Rattus norvegicus	CFL2	RGD	RGD:1306982
Others	CFL2	NCBI