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FLASH GENE
Symbol GLDN contributors: mct - updated : 23-11-2016
HGNC name gliomedin
HGNC id 29514
Corresponding disease
LCCS11 lethal congenital contracture syndrome 11
Location 15q21.2      Physical location : 51.633.712 - 51.700.207
Synonym name
  • collomin
  • colmedin
  • Synonym symbol(s) COLM, CRG-L2, CLOM, UNC-112, CRGL2
    DNA
    TYPE functioning gene
    STRUCTURE 71.85 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5084 - 551 - 2005 16039564
    - - 4604 - 427 - 2005 16039564
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Nervousbrain    
    Reproductivefemale systemplacenta   
    Respiratoryrespiratory tractlarynx   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchwann cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an olfactomedin (OLF) domain located at the extracellular C-terminus, involved in the accumulation of neuronal plasma membrane voltage-gated sodium channels in the nodes by interacting with NFASC and NRCAM
  • HOMOLOGY
    interspecies homolog to murine Gldn (88.2pc)
    homolog to rattus Gldn (86.6pc)
    Homologene
    FAMILY
    CATEGORY adhesion , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • providing a glial cue for the formation of peripheral nodes of Ranvier
  • is one of the essential proteins in the development of the nodes of Ranvier in the vertebrate peripheral nervous system
  • secreted cell adhesion molecule involved in the formation of the nodes of Ranvier
  • major role of gliomedin in node formation and the development of the peripheral nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • initial clustering of Na(+) channels at heminodes requires glial NRCAM and GLDN, as well as their axonal receptor neurofascin 186 (NFASC186)
  • in the peripheral nervous system (PNS), the axoglial contact mediated by the binding of glial GLDN and NRCAM to axonal NFASC186 is crucial for the initial clustering of voltage-gated Na+ channels at the nodes of Ranvier
  • axoglial contact between GLDN and NFASC186 is essential for the initial clustering of Na+ channels at developing nodes
  • cell & other
  • interacting with neurofascin and NrCAM, two axonal immunoglobulin cell adhesion molecules
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    upregulated in hepatocytes throughout the tumor and in preneoplastic foci
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS