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FLASH GENE
Symbol CDH15 contributors: mct/npt - updated : 07-01-2009
HGNC name cadherin 15, type 1, M-cadherin (myotubule)
HGNC id 1754
Location 16q24.3      Physical location : 89.238.162 - 89.261.899
Synonym name
  • cadherin-14
  • cadherin-3
  • cadherin 15, M-cadherin (myotubule)
  • muscle-cadherin
  • myotubule-cadherin
    • Synonym symbol(s) MCAD, CDH3, CDH14, CDHM
    DNA
    TYPE functioning gene
    STRUCTURE 23.74 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see TSG16H
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2875 - 814 - Hollnagel (2002)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systemplacenta   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic domain
  • five extracellular cadherin repeats
  • four cysteines in the most proximal
  • a transmembrane segment (TM)
  • a highly conserved cytoplasmic tail required for interactions
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • transmembrane glycoprotein component of adherens junction, playing an essential role in the control of morphogenetic processes
    • CELLULAR PROCESS cell life, differentiation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • myogenesis
  • terminal muscle cells differentiation
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • heterophilic, calcium dependent interactions
  • interacting by its C terminus with the cytoskeleton via beta-catenin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in breast carcinoma (see TSG16H)
    constitutional       loss of function
    in patients with mild to severe intellectual disability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS