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FLASH GENE
Symbol DSCAM contributors: mct/npt/pgu - updated : 07-12-2013
HGNC name Down syndrome cell adhesion molecule
HGNC id 3039
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extracellular component of nine tandemly repeated Ig-like C2-type domain,and
  • a tenth located between the fourth and fifth copy of an array of six FBN-like domains (fibronectin type III-like domains)
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Dscam
    homolog to Drosophila CG7060
    homolog to C.elegans T25C12.3
    Homologene
    FAMILY
  • immunoglobulin superfamily
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    text transmembrane protein
    basic FUNCTION
  • mediating cation-independent homophilic binding activity
  • involved in nervous system development
  • functioning as an axon guidance receptor regulating targeting and branching
  • could act as a Netrin receptor, and also function in a pathway parallel to Netrins
  • potentially having the ability to respond to multiple ligands and act as receptors for an unidentified midline attractive cue
  • stimulating PAK1 phosphorylation and activity, and activating both JNK and p38 MAP kinases
  • involved in netrin-induced phosphorylation of PAK1 and FYN
  • required for axon guidance and dendrite arborization
  • powerfully regulate the mosaic spacing of neurons in the retina, but not their synaptic specificity
  • DSCAM and DSCAM-LIKE1 (DSCAML1) serve diverse neurodevelopmental functions, including axon guidance, synaptic adhesion, and self-avoidance
  • plays a critical role in central respiratory regulation in a dosage-dependent manner
  • cell adhesion molecule involved in dendrite morphology and neuronal wiring, and its expression pattern suggests a role in synaptic plasticity
  • regulator of eye-specific segregation of retinogeniculate projections
  • DSCAM dosage clearly regulates cell spacing and dendritic fasciculation in a specific class of retinal ganglion cells
  • may function as a bifunctional guidance receptor involved in either attractive or repulsive signaling pathways
  • functions as a repulsive netrin receptor, collaborating with UNC5C to mediate axon growth cone collapse
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SDK1 and SDK2 (direct lamina-specific synaptic connections in vertebrate retina)
  • interacts with Netrin-1 (NTN1), a prototypical guidance cue for commissural axons (functions as a receptor of netrin-1)
  • functions as a NTN1 receptor collaborating with DCC in NTN1 signaling
  • NTN1 binds to DCC and DSCAM mediating axon attraction, and UNC5 mediating axon repulsion
  • interacts with UNC5C and this interaction is stimulated by NTN1 in primary cortical neurons and postnatal cerebellar granule cells
  • MAPK8 is important in the coordination of DCC and DSCAM in NTN1-mediated attractive signaling
  • DCC cooperates with DSCAM through regulating JNK activity in NTN1 signaling
  • combination of DSCAM with DCC or UNC5C plays an important role in NTN1-mediated axon attraction or repulsion
  • TBCD physically interacts with the intracellular domain DSCAM, which is important for neural development and has been implicated in Down syndrome
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • potentially involved in congenital heart disease
    • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • retinal ganglion cells (RGCs)had fasciculated dendrites and clumped cell bodies in Dscam(-/-) mice, suggesting a role in self-avoidance
  • in Dscam deficient mice, retinal ganglion cells have defects in neuronal spacing and dendritic arborization patterns exhibiting neuronal self-avoidance phenotypes