Myl2 myosin, light polypeptide 2, regulatory, cardiac, slow [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myl2provided by MGI
Official Full Name: myosin, light polypeptide 2, regulatory, cardiac, slowprovided by MGI
Primary source: MGI:MGI:97272
See related: Ensembl:ENSMUSG00000013936 AllianceGenome:MGI:97272
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MLC-2; Mlc2v; Mylpc; MLC-2v; Gm32672; MLC-2s/v
Summary: Predicted to enable actin monomer binding activity and calcium ion binding activity. Involved in heart development and positive regulation of the force of heart contraction. Acts upstream of or within several processes, including cardiac muscle contraction; heart development; and muscle cell fate specification. Located in myofibril. Is expressed in several structures, including diaphragm; embryo mesoderm; eye; heart; and triceps surae muscle. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and hypertrophic cardiomyopathy 10. Orthologous to human MYL2 (myosin light chain 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 1539.2) See more
Orthologs: human all
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Genomic context

Location:: 5; 5 F

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (122230787..122251536)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (122092724..122113473)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Brain-derived neurotrophic factor regulates LYN kinase-mediated myosin light chain kinase activation to modulate nonmuscle myosin II activity in hippocampal neurons.
Title: Brain-derived neurotrophic factor regulates LYN kinase-mediated myosin light chain kinase activation to modulate nonmuscle myosin II activity in hippocampal neurons.
Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin.
Title: Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin.
Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca(2+) sensitivity.
Title: Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca(2+) sensitivity.
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.
Myosin II-deficient necrotic cells are impaired in their ability to stimulate DNGR-1 or to serve as substrates for Conventional type 1 dendritic cells cross-presentation to CD8(+) T cells.
Title: Myosin II Synergizes with F-Actin to Promote DNGR-1-Dependent Cross-Presentation of Dead Cell-Associated Antigens.
transgenic mouse models of hypertrophic cardiomyopathy may be caused by mutations in myosin regulatory light chain
Title: Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.
MLC2 phosphorylation regulates actin-based cytokinesis in mouse oocytes, and this regulation may be mediated via a RhoA-MLC2-actin pathway.
Title: RhoA-mediated MLC2 regulates actin dynamics for cytokinesis in meiosis.
Treatment of mice with an AT1R biased ligand, acting via beta-arrestin signalling, is able to induce an increase in cardiac contractility associated with an increase in ventricular myosin light chain-2 phosphorylation
Title: Cardiac myosin light chain phosphorylation and inotropic effects of a biased ligand, TRV120023, in a dilated cardiomyopathy model.
Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.
Title: Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (7) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548406

Myl2 (e-PCR), detects polymorphism
- UniSTS:547935

Mylpc (e-PCR), detects polymorphism
- UniSTS:143968

Mylpc (e-PCR), detects polymorphism
- UniSTS:143969

Myl2 (e-PCR), detects polymorphism
- UniSTS:502683

Myl2 (e-PCR), detects polymorphism
- UniSTS:259241

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin monomer binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cardiac muscle contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in heart contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in muscle cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of the force of heart contraction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within post-embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of the force of heart contraction	ISO Inferred from Sequence Orthology more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
colocalizes_with actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in myofibril	ISO Inferred from Sequence Orthology more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: myosin light chain 2v; myosin light chain, phosphorylatable, cardiac ventricles

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.

mRNA and Protein(s)

NM_001384326.1 → NP_001371255.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1

Status: VALIDATED

Source sequence(s)

AC140353

UniProtKB/Swiss-Prot

P51667, Q6P8P4, Q9QVP3

UniProtKB/TrEMBL

E9Q8Y0

Related

ENSMUSP00000107380.2, ENSMUST00000111751.8

Conserved Domains (1) summary

COG5126
Location:14 → 163

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001384327.1 → NP_001371256.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: VALIDATED

Source sequence(s)

AC140353

Conserved Domains (1) summary

COG5126
Location:1 → 144

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001384328.1 → NP_001371257.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: VALIDATED

Source sequence(s)

AC140353

Conserved Domains (1) summary

COG5126
Location:1 → 144

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001384329.1 → NP_001371258.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: VALIDATED

Source sequence(s)

AC140353

Conserved Domains (1) summary

COG5126
Location:1 → 144

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001384330.1 → NP_001371259.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: VALIDATED

Source sequence(s)

AC140353

Conserved Domains (1) summary

COG5126
Location:1 → 144

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001384331.1 → NP_001371260.1 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

Status: VALIDATED

Source sequence(s)

AC140353

Conserved Domains (1) summary

COG5126
Location:1 → 144

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_010861.4 → NP_034991.3 myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1

See identical proteins and their annotated locations for NP_034991.3

Status: VALIDATED

Source sequence(s)

AC140353, AK002367, BX529018

Consensus CDS

CCDS39252.1

UniProtKB/Swiss-Prot

P51667, Q6P8P4, Q9QVP3

UniProtKB/TrEMBL

E9Q8Y0

Related

ENSMUSP00000014080.7, ENSMUST00000014080.13

Conserved Domains (1) summary

COG5126
Location:14 → 163

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]