MYL2 - myosin light chain 2 Gene

Homo sapiens

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

Gene ID: 4633 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

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