MYL2 - myosin light chain 2 Gene

Also Known as MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4633

About 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).

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin monomer binding	IDA IDA: Inferred from direct assay	9180271	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	11102452	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11773029	GOA
enables structural constituent of muscle	IMP IMP: Inferred from mutant phenotype	23365102	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	15824735	GOA
involved in ventricular cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	8673105	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with actin cytoskeleton	IDA IDA: Inferred from direct assay	17043135	GOA
located in cardiac myofibril	IDA IDA: Inferred from direct assay	25771144	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	17043135	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

MYL2 Protein Structure

EF-hand_1

EF-hand_8

0
100
166 a.a.

Protein Preferred Names	Protein Names
myosin regulatory light chain 2, ventricular/cardiac muscle isoform	RLC of myosin

MYL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYL2	P10916	MYOC	Homo sapiens	Q99972	Y2H	11773029
Intra	MYL2	P10916	MYOC	Homo sapiens	Q99972	IF	11773029
Intra	MYL2	P10916	MYOC	Homo sapiens	Q99972	Anti Bait CoIP	11773029
Intra	MYL2	P10916	MYOC	Homo sapiens	Q99972	EM	11773029
Intra	MYL2	P10916	PSORS1C2	Homo sapiens	Q9UIG4	Validated Y2H	32296183
Intra	MYL2	P10916	IRX6	Homo sapiens	P78412	Validated Y2H	32296183
Intra	MYL2	P10916	USP6	Homo sapiens	P35125-3	Y2H	16555005
Intra	MYL2	P10916	USP6	Homo sapiens	P35125-3	Anti Tag CoIP	16555005

Cross: Cross-species interaction Intra: Intraspecies interaction

MYL2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80235	Myosin Light Chain 2 Antibody (YA278)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P82964	Myosin Light Chain 2 Antibody (YA2709)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P84052	Myosin Light Chain 2 Antibody (YA3749)	WB, ELISA	Human
HY-P84052A	Myosin Light Chain 2 Antibody (YA3749)(PBS only)	WB, ELISA	Human
HY-P85656	Myosin Heavy Chain Antibody (YA5348)	ICC/IF	Human, Mouse, Rat, FruitFly, Nematode
HY-P86430	Myosin Light Chain 2 Antibody (YA6122)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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]

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08914	MYL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	MYL2	NCBI