MYL2 - myosin light chain 2 Gene

中文名称：肌球蛋白轻链 2

种属: Homo sapiens

同用名: MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v

基因 ID: 4633 | 基因类型: protein coding

关于 MYL2

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:110,910,845-110,920,579 (from NCBI)

This gene has 5 transcripts (splice variants), 253 orthologues, 7 paralogues and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 6074.6).

功能概要

该基因编码哺乳动物横纹肌中的一种主要肌节蛋白。编码的蛋白质在胚胎心肌结构和功能中发挥作用，而编码蛋白质的磷酸化参与成人的心肌肌球蛋白循环动力学、扭转和功能。该基因的突变与肥厚性心肌病 10 和婴儿期肌病有关。[RefSeq 提供，2022 年 5 月]

This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac Myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]

MYL2 基因产物(3)

mRNA	Protein	Name
NM_000432.4	NP_000423.2	myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1
NM_001406745.1	NP_001393674.1	myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2
NM_001406916.1	NP_001393845.1	myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 3

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 actin monomer binding	IDA IDA: 通过直接分析推断	9180271	GOA
enables calcium ion binding	IDA IDA: 通过直接分析推断	11102452	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11773029	GOA
enables structural constituent of muscle	IMP IMP: 通过突变表型推断	23365102	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of cell growth	IMP IMP: 通过突变表型推断	15824735	GOA
involved in ventricular cardiac muscle tissue morphogenesis	IMP IMP: 通过突变表型推断	8673105	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with actin cytoskeleton	IDA IDA: 通过直接分析推断	17043135	GOA
located in cardiac myofibril	IDA IDA: 通过直接分析推断	25771144	GOA
located in cytoskeleton	IDA IDA: 通过直接分析推断	17043135	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

MYL2 蛋白结构

EF-hand_1

EF-hand_8

0
100
166 a.a.

蛋白主名

其他名称

myosin regulatory light chain 2, ventricular/cardiac muscle isoform

RLC of myosin

MYL2 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	MYL2	P10916	MYOC	Homo sapiens	Q99972	Y2H	11773029
种属内	MYL2	P10916	MYOC	Homo sapiens	Q99972	IF	11773029
种属内	MYL2	P10916	MYOC	Homo sapiens	Q99972	Anti Bait CoIP	11773029
种属内	MYL2	P10916	MYOC	Homo sapiens	Q99972	EM	11773029
种属内	MYL2	P10916	PSORS1C2	Homo sapiens	Q9UIG4	Validated Y2H	32296183
种属内	MYL2	P10916	IRX6	Homo sapiens	P78412	Validated Y2H	32296183
种属内	MYL2	P10916	USP6	Homo sapiens	P35125-3	Y2H	16555005
种属内	MYL2	P10916	USP6	Homo sapiens	P35125-3	Anti Tag CoIP	16555005

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Cardiomyopathy, Familial Hypertrophic, 10

Hypertrophic Cardiomyopathy 10	CMH10
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2	Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic 10	Familial Hypertrophic Cardiomyopathy With Mid-Left Ventricular Chamber Type 2
Mvc2	Cardiomyopathy, Hypertrophic, Familial, Type 10

Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy

MFM12

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

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Myopathy, Congenital, With Fiber-Type Disproportion

CFTD	Fiber-Type Disproportion Myopathy, Congenital
Cftdm	Myopathy, Congenital, With Fiber-Type Disproportion 1
Congenital Fiber-Type Disproportion Myopathy	Myopathy, Congenital, With Fiber Type Disproportion

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Familial Isolated Restrictive Cardiomyopathy

Familial Or Idiopathic Restrictive Cardiomyopathy

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

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

Myopathy

Muscular Diseases

Myopathies

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]

Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20	CMS20
Congenital Myasthenic Syndrome 20 Presynaptic	Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Intrinsic Cardiomyopathy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m	CMD1M
Cardiomyopathy, Dilated 1m	Cardiomyopathy, Dilated, Type 1m

Myopathy, Distal, 1

Laing Distal Myopathy	Laing Early-Onset Distal Myopathy
MPD1	Distal Myopathy 1
Myopathy, Distal, Early-Onset, Autosomal Dominant	Distal Myopathy Type 1
Gowers Disease	Myopathy, Late Distal Hereditary
Myopathy Distal, Type 1	Myopathy Distal Early-Onset Autosomal Dominant
Myopathy Late Distal Hereditary	Myopathy, Distal, Type 1
Welander Distal Myopathy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1	Digitotalar Dysmorphism
DA1A	Da1
Amcd1	Arthrogryposis, Distal, Type 2b4
Distal Arthrogryposis Type 1a	Arthrogryposis, Distal, Type 1
Arthrogryposis Multiplex Congenita Distal Type 1	Arthrogryposis Multiplex Congenita, Distal Type 1
Arthrogryposis Multiplex Congenita, Distal, Type I	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1a	Amc
Arthrogryposis Multiplex Congenita	Arthrogryposis, Distal, 2b4
DA2B4	Arthrogryposis Multiplex Congenita, Distal, Type 1
Arthrogryposis

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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-RS08914	MYL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	MYL2	VGNC	VGNC:68383
Rattus norvegicus	MYL2	RGD	RGD:1564245
Macaca mulatta	MYL2	VGNC	VGNC:75103
Mus musculus	MYL2	MGD	MGI:97272
Canis familiaris	MYL2	VGNC	VGNC:43543
Bos taurus	MYL2	VGNC	VGNC:31800

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上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MYL2 - myosin light chain 2 Gene

关于 MYL2

功能概要

MYL2 基因产物(3)

MYL2 蛋白结构

MYL2 蛋白互作信息

关联疾病

直系同源

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MYL2 - myosin light chain 2 Gene

关于 MYL2

功能概要

MYL2 基因产物(3)

MYL2 蛋白结构

MYL2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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