CFL2 - cofilin 2 Gene

中文名称：肌动蛋白丝切蛋白 2

种属: Homo sapiens

同用名: NEM7

基因 ID: 1073 | 基因类型: protein coding

关于 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.

功能概要

该基因编码参与肌动蛋白丝动力学调节的细胞内蛋白。这种蛋白质是核内和细胞质肌动蛋白棒的主要成分。它可以以 1:1 的肌动蛋白丝切蛋白与肌动蛋白比例结合 G- 和 F-肌动蛋白，并以 pH 依赖性方式可逆地控制肌动蛋白聚合和解聚。该基因的突变会导致 7 型线形肌病，这是一种先天性肌病。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin filament depolymerization	IDA IDA: 通过直接分析推断	19752190	GOA
involved in positive regulation of actin filament depolymerization	IMP IMP: 通过突变表型推断	17160903	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in I band	IDA IDA: 通过直接分析推断	17160903	GOA
located in Z disc	IDA IDA: 通过直接分析推断	19752190	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CFL2 蛋白结构

Cofilin_ADF

0
100
166 a.a.

蛋白主名

其他名称

cofilin-2

cofilin 2 (muscle)

CFL2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CFL2	Q9Y281	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
种属内	CFL2	Q9Y281	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
种属内	CFL2	Q9Y281	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
种属内	CFL2	Q9Y281	RNF4	Homo sapiens	P78317	Y2H Array	32296183
种属内	CFL2	Q9Y281	TRIM7	Homo sapiens	Q9C029	Y2H Prey Pooling	32296183
种属内	CFL2	Q9Y281	TRIM7	Homo sapiens	Q9C029	Y2H Array	32296183
种属内	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Pull Down	16189514
种属内	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Y2H Array	32296183
种属内	CFL2	Q9Y281	ACTG1	Homo sapiens	P63261	Y2H Prey Pooling	32296183
种属内	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H	21516116
种属内	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H Array	31515488
种属内	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Pull Down	16189514
种属内	CFL2	Q9Y281	ACTB	Homo sapiens	P60709	Y2H Pooling	16189514
种属内	CFL2	Q9Y281	CSRP3	Homo sapiens	P50461	Far-WB	24860983
种属内	CFL2	Q9Y281	RAB2A	Homo sapiens	P61019	Y2H Prey Pooling	32296183
种属内	CFL2	Q9Y281	RAB2A	Homo sapiens	P61019	Y2H Array	32296183
种属内	CFL2	Q9Y281	POT1	Homo sapiens	Q9NUX5	Y2H Array	32296183
种属内	CFL2	Q9Y281	POT1	Homo sapiens	Q9NUX5	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CFL2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74234	Cofilin-2 Protein, Human (His)	Q9Y281-1 (A2-L166)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02569	CFL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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