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

    Gene ID: 4633, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See MYL2 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110910845..110921449, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110890028..110900632, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111348649..111358383, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952 Neighboring gene coiled-coil domain containing 63 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111298099-111298599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355215-111355716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355717-111356216 Neighboring gene VISTA enhancer hs2149 Neighboring gene VISTA enhancer hs2493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111373669-111374362 Neighboring gene Sharpr-MPRA regulatory region 3484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111375751-111376443 Neighboring gene long intergenic non-protein coding RNA 1405 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:111394805-111396004 Neighboring gene long intergenic non-protein coding RNA 1404

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of a coronary artery disease risk variant.
    EBI GWAS Catalog
    Common variants at 12q24 are associated with drinking behavior in Han Chinese.
    EBI GWAS Catalog
    Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog
    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

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp779C0562

    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_007554.1 RefSeqGene

      Range
      4978..14759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_393

    mRNA and Protein(s)

    1. NM_000432.4NP_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:15163
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    2. NM_001406745.1NP_001393674.1  myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC002351
      UniProtKB/TrEMBL
      G3V1V8, Q14908, Q7Z3Z1
      Related
      ENSP00000447154.1, ENST00000548438.1
    3. NM_001406916.1NP_001393845.1  myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC002351
      UniProtKB/TrEMBL
      A0A590UJU8, Q14908, Q7Z3Z1
      Related
      ENSP00000499568.1, ENST00000663220.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110910845..110921449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110890028..110900632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)