MYL2 myosin light chain 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYL2provided by HGNC
Official Full Name: myosin light chain 2provided by HGNC
Primary source: HGNC:HGNC:7583
See related: Ensembl:ENSG00000111245 MIM:160781; AllianceGenome:HGNC:7583
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MLC2; CMH10; MFM12; MLC-2; MLC-2v; MLC-2s/v
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]
Expression: Restricted expression toward heart (RPKM 6074.6) See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (110910845..110921449, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (110890028..110900632, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (111348649..111359253, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.
Title: Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.
FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.
Title: FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.
Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.
Title: Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.
Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
Title: Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
Title: Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2.
Title: Cardiac MLC2 kinase is localized to the Z-disc and interacts with α-actinin2.
An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy.
Title: Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
Induced pluripotent stem cell-derived cardiomyocytes from a patient with MYL2-R58Q-mediated apical hypertrophic cardiomyopathy show cardiac hypertrophy, myofibrillar disarray, impairment of the intracellular Ca2+ homeostasis and delayed decay time, reduced Ca2+ current density, and arrhythmia.
Title: Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.
Using transgenic mice with cardiac-specific expression of human R58Q-RLC mutant, we sought to determine whether the hypertrophic cardiomyopathy phenotype observed in papillary muscles (PMs) of R58Q mice is also manifested in slow-twitch soleus (SOL) muscles. Consistent with SOL muscle abnormalities in R58Q vs. wild-type mice, myosin ATPase staining showed a decreased proportion of fiber type I/type II only in SOL muscles.
Title: Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.
Title: A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYL2 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Hypertrophic cardiomyopathy 10 MedGen: C1834460 OMIM: 608758 GeneReviews: Hypertrophic Cardiomyopathy Overview	not available
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy MedGen: C5561937 OMIM: 619424 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study of a coronary artery disease risk variant. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 12q24 are associated with drinking behavior in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The basic domain (49RKKRRQRRR57) of HIV-1 Tat is essential for enhancing the FGF-induced activation of ERK, Rho-A, and MLC2 and upregulates the expression of MMP-9 in human podocytes	PubMed
	tat	Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FB11E11 (e-PCR)
- UniSTS:53822

WI-9038 (e-PCR)
- UniSTS:43391

RH66394 (e-PCR)
- UniSTS:15278

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin monomer binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables myosin heavy chain binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of muscle	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of the force of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of striated muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of the force of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in A band	IEA Inferred from Electronic Annotation more info
colocalizes_with actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cardiac myofibril	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	NAS Non-traceable Author Statement more info	PubMed
part_of myosin complex	TAS Traceable Author Statement more info	PubMed
located_in sarcomere	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Names: RLC of myosin; S15D myosin regulatory light chain 2; T160D myosin regulatory light chain 2; cardiac myosin light chain 2; cardiac ventricular myosin light chain 2; myosin, light chain 2, regulatory, cardiac, slow; myosin, light polypeptide 2, regulatory, cardiac, slow; regulatory light chain of myosin; slow cardiac myosin regulatory light chain 2; ventricular myosin light chain 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007554.1 RefSeqGene

Range

4978..14759

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_393

mRNA and Protein(s)

NM_000432.4 → NP_000423.2 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1

See identical proteins and their annotated locations for NP_000423.2

Status: REVIEWED

Source sequence(s)

BC015821

Consensus CDS

CCDS31901.1

UniProtKB/Swiss-Prot

P10916, Q16123

UniProtKB/TrEMBL

Q14908, Q6IB42, Q7Z3Z1

Related

ENSP00000228841.8, ENST00000228841.15

Conserved Domains (1) summary

COG5126
Location:15 → 163

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001406745.1 → NP_001393674.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: REVIEWED

Source sequence(s)

AC002351

UniProtKB/TrEMBL

G3V1V8

Related

ENSP00000447154.1, ENST00000548438.1
NM_001406916.1 → NP_001393845.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 3

Status: REVIEWED

Source sequence(s)

AC002351

UniProtKB/TrEMBL

A0A590UJU8

Related

ENSP00000499568.1, ENST00000663220.1