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

Gene ID: 17906, updated on 26-Mar-2024

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
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Genomic context

See Myl2 in Genome Data Viewer
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_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52785 Neighboring gene cut-like homeobox 2 Neighboring gene uncharacterized LOC118568726 Neighboring gene predicted gene, 52786 Neighboring gene VISTA enhancer mm77 Neighboring gene STARR-seq mESC enhancer starr_14271 Neighboring gene STARR-positive B cell enhancer ABC_E3613 Neighboring gene coiled-coil domain containing 63 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122595403-122595586 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122595588-122595697 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122634438-122634667 Neighboring gene STARR-seq mESC enhancer starr_14277 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene STARR-positive B cell enhancer ABC_E9650 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:122685188-122685492 Neighboring gene hydrogen voltage-gated channel 1 Neighboring gene tectonic family member 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (7)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

General gene information

Markers

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 fiber ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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

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)

  1. NM_001384326.1NP_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:14163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001384327.1NP_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:1144
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_001384328.1NP_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:1144
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  4. NM_001384329.1NP_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:1144
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  5. NM_001384330.1NP_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:1144
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  6. NM_001384331.1NP_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:1144
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  7. NM_010861.4NP_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:14163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    122230787..122251536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)