Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4633
Gene name	Myosin light chain 2
Gene symbol	MYL2
Synonyms (NCBI Gene)	CMH10MFM12MLC-2MLC-2s/vMLC-2vMLC2
Chromosome	12
Chromosome location	12q24.11
Summary	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventr

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894363	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-pathogenic	Coding sequence variant, missense variant
rs104894368	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs104894369	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894370	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs111373423	A>G	Pathogenic	Splice donor variant
rs121913658	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs143139258	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199474808	G>A,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs199474813	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic	Splice acceptor variant
rs199474814	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs375703502	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516399	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516406	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516407	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516408	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs547860537	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587782965	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503296	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504425	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880944	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880948	C>A	Pathogenic	Splice donor variant
rs730880950	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880952	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs751392310	CCT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs786205430	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs863225117	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555258369	C>T	Likely-pathogenic, uncertain-significance	Missense variant, initiator codon variant
rs1566147422	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592798444	TTCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048671	hsa-miR-99a-5p	CLASH	23622248
MIRT736741	hsa-miR-124-3p	qRT-PCR	32727232
MIRT1168601	hsa-miR-3675-5p	CLIP-seq
MIRT1168602	hsa-miR-4691-3p	CLIP-seq
MIRT1168603	hsa-miR-4694-3p	CLIP-seq
MIRT1168604	hsa-miR-4717-3p	CLIP-seq
MIRT1168605	hsa-miR-486-3p	CLIP-seq
MIRT1168606	hsa-miR-522	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003785	Function	Actin monomer binding	IDA	9180271
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	11102452
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11773029, 16555005, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	17043135
GO:0005856	Component	Cytoskeleton	TAS	8673105
GO:0006942	Process	Regulation of striated muscle contraction	TAS	8673105
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008307	Function	Structural constituent of muscle	IMP	23365102, 32453731
GO:0008307	Function	Structural constituent of muscle	NAS	17885681
GO:0008307	Function	Structural constituent of muscle	TAS	8673105
GO:0009791	Process	Post-embryonic development	IEA
GO:0015629	Component	Actin cytoskeleton	IDA	17043135
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	11102452
GO:0030016	Component	Myofibril	IBA
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	NAS	8287067
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030308	Process	Negative regulation of cell growth	IMP	15824735
GO:0031672	Component	A band	IEA
GO:0032036	Function	Myosin heavy chain binding	NAS	8287067
GO:0042694	Process	Muscle cell fate specification	IBA
GO:0042694	Process	Muscle cell fate specification	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	8673105
GO:0060047	Process	Heart contraction	IEA
GO:0060047	Process	Heart contraction	ISS
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:0098735	Process	Positive regulation of the force of heart contraction	IEA
GO:0098735	Process	Positive regulation of the force of heart contraction	ISS

MIM	HGNC	e!Ensembl
160781	7583	ENSG00000111245

P10916

Protein name

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Cardiac myosin light chain 2) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v) (Ventricular myosin light chain 2)

Protein function

Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm st

PDB

5TBY , 8ACT , 8G4L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00036	EF-hand_1	28 → 56	EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in type I muscle fibers. {ECO:0000269|PubMed:23365102, ECO:0000269|PubMed:32453731}.

Sequence

MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVN
VKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVR
EMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD

Sequence length

166

Interactions

View interactions

	KEGG		Reactome
	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway Focal adhesion Adherens junction Tight junction Leukocyte transendothelial migration Regulation of actin cytoskeleton Motor proteins Cytoskeleton in muscle cells Shigellosis Salmonella infection Hypertrophic cardiomyopathy Dilated cardiomyopathy		Striated Muscle Contraction

991

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Likely pathogenic; Pathogenic	rs397516398, rs104894368, rs104894369, rs104894370, rs397516406, rs1592798444	RCV001799463 RCV001170438 RCV001798005 RCV005401284 RCV003486556 RCV000770388
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs104894368, rs104894369, rs104894370, rs199474815	RCV002354163 RCV000621867 RCV000246859 RCV005403722
Congenital heart disease	Pathogenic	rs2136767620	RCV001568358
Congenital myopathy with fiber type disproportion	Likely pathogenic	rs2071647433	RCV001507318
Death in early adulthood	Likely pathogenic; Pathogenic	rs104894368	RCV000234985
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs587782965, rs727503296, rs2499805953, rs104894368, rs104894369, rs104894370, rs397516406	RCV000844710 RCV000151360 RCV002468910 RCV000768488 RCV000844711 RCV004806011 RCV000036408
Hypertrophic cardiomyopathy 10	Likely pathogenic; Pathogenic	rs587782965, rs104894368, rs104894369, rs104894370, rs199474815, rs727504425	RCV000542482 RCV000015109 RCV000015111 RCV000015112 RCV001852571 RCV000639677 RCV000988908
MYL2-related disorder	Likely pathogenic; Pathogenic	rs104894368	RCV004532354
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Likely pathogenic; Pathogenic	rs104894370	RCV002504789
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs2136774043, rs587782965, rs104894369	RCV001825079 RCV000143928 RCV000157369

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	rs199567559	RCV000852437
Cardiomyopathy, dilated, and heart failure	Uncertain significance	rs727504341	RCV005430503
Congestive heart failure	Benign	rs2301610, rs3833910, rs12301951	RCV003125836 RCV003125837 RCV003125848
Death in infancy	Conflicting classifications of pathogenicity	rs199474808	RCV000234981
Dilated cardiomyopathy 1S	Conflicting classifications of pathogenicity	rs143139258	RCV000491626
Familial isolated restrictive cardiomyopathy	Conflicting classifications of pathogenicity	rs1555258369	RCV000513098
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity	rs104894363, rs199474808	RCV000584799 RCV000584767
Premature ventricular contraction	Conflicting classifications of pathogenicity	rs199474808	RCV000157368
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs727504559, rs869025484, rs397516402, rs143139258	RCV000852438 RCV000208449 RCV000678724 RCV000678725
Sarcoma	Conflicting classifications of pathogenicity	rs143139258	RCV005888995

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	18948272
Cardiomyopathies	Associate	22194935, 31127036, 35544052, 37967257
Cardiomyopathy Dilated	Stimulate	11812662
Cardiomyopathy Dilated	Associate	30690923
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	30690923
Cardiomyopathy Hypertrophic	Associate	16199542, 18411228, 21259275, 21896538, 22429680, 22857948, 25086479, 25342278, 27483260, 27841901, 28223422, 28771489, 29709087, 30681346, 30775854 View all (4 more)
Cardiomyopathy Hypertrophic Familial	Associate	22112859
Cardiomyopathy Restrictive	Associate	21823217
Chagas Disease	Associate	22543060
Colorectal Neoplasms	Associate	30846413
Death Sudden	Associate	31771554
Diabetes Mellitus	Associate	25646370
Disease	Associate	31127036
Glioblastoma	Associate	23601662
Gout	Associate	25646370, 27181629
Heart Diseases	Associate	22543060
Heart Failure	Inhibit	21259275
Hypertension	Associate	32854392
Hypertrophy Left Ventricular	Associate	30681346
Lead Poisoning Nervous System	Associate	35170371
Leukemia Megakaryoblastic Acute	Associate	11436981
Muscle Neoplasms	Associate	25531450
Myopathies Structural Congenital	Associate	31127036
Myopathy Myosin Storage	Associate	18411228
Neoplasms	Associate	17131471, 18948272, 27901489, 35278271, 39656775
Neurocognitive Disorders	Associate	32727232
Neuromuscular Diseases	Associate	31127036
Paroxysmal ventricular fibrillation	Associate	37967257
Rhabdomyosarcoma	Inhibit	34596111
Squamous Cell Carcinoma of Head and Neck	Associate	37679666

MYL2 (myosin light chain 2)