Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DSCAM contributors: mct/npt/pgu - updated : 07-12-2013
HGNC name Down syndrome cell adhesion molecule
HGNC id 3039
Location 21q22.2      Physical location : 41.384.342 - 42.219.039
Synonym name CHD2-52 down syndrome cell adhesion molecule
Synonym symbol(s) CHD2-42, CHD2-52, CHD2
DNA
TYPE functioning gene
STRUCTURE 834.70 kb     33 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - HMGN1 - D21S345 - [D21S347 - D21S15 - D21S348 - D21S23 - D21S231 - D21S349 ] - D21S350 - qter
Text [DSCAM ]
Physical map
DSCR8 21q22.2 Down syndrome critical region gene 8 DSCR10 21q22.2 Down syndrome critical region gene 10 KCNJ15 21q22.2 potassium inwardly-rectifying channel, subfamily J, member 15 LOC388824 21 LOC388824 ERG 21q22.2 v-ets erythroblastosis virus E26 oncogene like (avian) ETS2 21q22.3 v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) LOC391282 21 similar to 60S ribosomal protein L23a PCBP2P1 21q22.3 poly(rC) binding protein 2, pseudogene 1 DSCR2 21q22.3 Down syndrome critical region gene 2 C21orf107 21 chromosome 21 open reading frame 107 C21orf87 21q22.1 chromosome 21 open reading frame 87 HMGN1 21q22.3 high-mobility group nucleosome binding domain 1 WRB 21q22.3 tryptophan rich basic protein MGC33295 21q22.2 hypothetical protein MGC33295 SH3BGR 21q22.3 SH3 domain binding glutamic acid-rich protein B3GALT5 21q22.3 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 LOC388825 21 LOC388825 LOC150084 21q22.2 hypothetical protein LOC150084 PCP4 21q22.2-q22.3 Purkinje cell protein 4 DSCAM 21q22.2-q22.3 Down syndrome cell adhesion molecule LOC388826 21 LOC388826 BACE2 21q22.3 beta-site APP-cleaving enzyme 2 PLAC4 21 placenta-specific 4 FAM3B 21q22.3 family with sequence similarity 3, member B MX2 21q22.3 myxovirus (influenza virus) resistance 2 (mouse) MX1 21q22.3 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) TMPRSS2 21q22.3 transmembrane protease, serine 2 C21orf129 21q22.3 chromosome 21 open reading frame 129 ANKRD3 21q22.3 ankyrin repeat domain 3 PRDM15 21q22.3 PR domain containing 15 LOC388827 21 similar to ZNF298
regionally located in the Down syndrome critical region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
33 splicing 7110 222.3 2012 type I membrane protein 1998 9426258
CHD2-52
- splicing - - 1571 secreted 1998 9426258
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen    
Nervousbrain    
Reproductivefemale systembreastmammary gland  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
NervousPurkinje cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text largely, in the developing nervous system
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