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FLASH GENE
Symbol MYL2 contributors: mct - updated : 11-03-2011
HGNC name myosin, light polypeptide 2, regulatory, cardiac, slow
HGNC id 7583
Corresponding disease
CMH10 cardiomyopathy, familial, hypertrophic, 10
Location 12q24.12      Physical location : 111.348.625 - 111.358.404
Synonym name
  • myosin regulatory light chain
  • Synonym symbol(s) RLC, HCRLC
    DNA
    TYPE functioning gene
    STRUCTURE 9.78 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    UBE3B 12q24.12 hypothetical protein FLJ13089 MMAB MVK 12q24 mevalonate kinase (mevalonic aciduria) MGC14436 12q24.12 hypothetical protein MGC14436 FLJ14721 12q24.12 hypothetical protein FLJ14721 TRPV4 12q24.1 transient receptor potential cation channel, subfamily V, member 4 GLTP 12q24.12 glycolipid transfer protein MGC10854 12q24.12 hypothetical protein MGC10854 GIT2 12q24.1 G protein-coupled receptor kinase-interactor 2 ANKRD13 12q24.12 ankyrin repeat domain 13 LOC144705 12q24.12 hypothetical gene supported by AF086409 CDV-1 12q24.13 carnitine deficiency-associated gene expressed in ventricle 1 ATP2A2 12q24.1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 HMGA1L3 12q24.13 high mobility group AT-hook 1-like 3 ARPC3 12q24 actin related protein 2/3 complex, subunit 3, 21kDa MGC14560 12q24.13 protein x 0004 HSU79274 12q24.13 protein predicted by clone 23733 VPS29 12q24 vacuolar protein sorting 29 (yeast) RAD9B 12q24.13 RAD9 homolog B (S. cerevisiae) TA-PP2C 12q24.13 T-cell activation protein phosphatase 2C FLJ21127 12q24.13 hypothetical protein FLJ21127 MGC15619 12q24.13 hypothetical protein MGC15619 PPP1CC 12q24.1 protein phosphatase 1, catalytic subunit, gamma isoform FLJ35843 12q24.13 hypothetical protein FLJ35843 MYL2 12q23-q24.3 myosin, light polypeptide 2, regulatory, cardiac, slow CUTL2 12q24.12 cut-like 2 (Drosophila) FLJ32356 12q24.13 hypothetical protein FLJ32356 LNK 12q24 hypothetical protein FLJ32356 SCA2 12q24.1 spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) BRAP 12q24 BRCA1 associated protein MGC5601 12q24.13 hypothetical protein MGC5601 ALDH2 12q24.2 aldehyde dehydrogenase 2 family (mitochondrial) FLJ39616 12q24.13 apoptosis-related protein PNAS-1 MAPKAPK5 12q24.12 mitogen-activated protein kinase-activated protein kinase 5 ADAM1 12q24.13 a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene LOC89894 12q24.13 hypothetical protein BC000282 C12orf8 12q24.13 chromosome 12 open reading frame 8 FLJ13089 12q24.13 hypothetical protein FLJ13089 FLN29 12q FLN29 gene product FLJ30092 12q24.13 AF-1 specific protein phosphatase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 855 - 166 - 2006 16809551
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an EF-hand Ca2+–Mg2+ binding site and also a highly conserved phosphorylatable serine, both sites located at the N terminus
  • three EF-hand calcium-binding domain
  • secondary structure two heavy chains and four light chains
    mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Mylpc
    Homologene
    FAMILY
    CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • regulatory light chain associated with cardiac myosin beta (or slow) heavy chain, playing a role in in the regulation of cardiac muscle contraction
  • required for thick-filament stabilization and contractility in the vertebrate heart
  • regulatory component of myosin heavy polypeptide, that may play a role in the development and progression of chronic heart failure
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , locomotion
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein EF hand calcium binding protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH10
    related resource FHC Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in heart failure tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS