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

    Gene ID: 4633, updated on 5-Aug-2018

    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; Vega:OTTHUMG00000169535
    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; MLC-2s/v
    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 ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward heart (RPKM 6074.6) See more
    Orthologs

    Genomic context

    See MYL2 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (110910819..110920600, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111348623..111358404, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene coiled-coil domain containing 63 Neighboring gene long intergenic non-protein coding RNA 1405 Neighboring gene uncharacterized LOC105369980

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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

    Associated conditions

    Description Tests
    Familial hypertrophic cardiomyopathy 10 Compare labs

    NHGRI GWAS Catalog

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

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CDC42 signaling events, organism-specific biosystem
      CDC42 signaling events
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
      N-cadherin signaling events, organism-specific biosystem
      N-cadherin signaling events
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RhoA signaling pathway, organism-specific biosystem
      RhoA signaling pathway
    • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
      Stabilization and expansion of the E-cadherin adherens junction
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp779C0562

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin monomer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin heavy chain binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of the force of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of striated muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of the force of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    A band IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    myofibril NAS
    Non-traceable Author Statement
    more info
    PubMed 
    myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    myosin regulatory light chain 2, ventricular/cardiac muscle isoform
    Names
    MLC-2
    MLC-2v
    RLC of myosin
    cardiac myosin light chain 2
    cardiac ventricular myosin light chain 2
    myosin light chain 2, slow skeletal/ventricular muscle isoform
    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)

    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_000432.3NP_000423.2  myosin regulatory light chain 2, ventricular/cardiac muscle isoform

      See identical proteins and their annotated locations for NP_000423.2

      Status: REVIEWED

      Source sequence(s)
      AA090235, BC015821, BC031008
      Consensus CDS
      CCDS31901.1
      UniProtKB/Swiss-Prot
      P10916
      UniProtKB/TrEMBL
      Q6IB42
      Related
      ENSP00000228841.7, OTTHUMP00000241472, ENST00000228841.12, OTTHUMT00000404677
      Conserved Domains (1) summary
      COG5126
      Location:15163
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      110910819..110920600 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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