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DSCAM Gene

protein-coding   GIFtS: 64
GCID: GC21M041382

Down Syndrome Cell Adhesion Molecule

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Down Syndrome Cell Adhesion Molecule1 2
Human CHD2-52 Down Syndrome Cell Adhesion Molecule2 11
CHD22 3
CHD2-422
CHD2-522

External Ids:    HGNC: 30391   Entrez Gene: 18262   Ensembl: ENSG000001715877   OMIM: 6025235   UniProtKB: O604693   

Export aliases for DSCAM gene to outside databases

Previous GC identifers: GC21M037958 GC21M040305 GC21M040306 GC21M026864


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DSCAM Gene:
This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in
human central and peripheral nervous system development. This gene is a candidate for Down syndrome and
congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, Oct 2012)

GeneCards Summary for DSCAM Gene:
DSCAM (Down syndrome cell adhesion molecule) is a protein-coding gene. Diseases associated with DSCAM include down syndrome, and cystic lymphangioma. An important paralog of this gene is FNDC3B.

UniProtKB/Swiss-Prot: DSCAM_HUMAN, O60469
Function: Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific
neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and
ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and
heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies. Receptor
for netrin required for axon guidance independently of and in collaboration with the receptor DCC. In spinal
chord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline
to reach the floor plate upon ligand binding. Enhances netrin-induced phosphorylation of PAK1 and FYN. Mediates
intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSCAM gene promoter:
         AREB6   MEF-2A   SRY   S8   Pbx1a   ATF-2   Cart-1   ZID   aMEF-2   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

   Search Chromatin IP Primers for DSCAM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSCAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.2   HGNC cytogenetic band: 21q22.2-q22.3
Nature(405: 311-319) cytogenetic band:   21q22.2
DSCAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCAM gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M041382:   GeneLoc Nature:405,311-319
Start:
41,382,926 bp from pter       26,958,276 bp from centromere
End:
42,219,065 bp from pter 27,791,902 bp from centromere
Size:
836,140 bases 833,627 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: AF023450
genomic clones: P31P10 to P39C17


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DSCAM_HUMAN, O60469 (See protein sequence)
Recommended Name: Down syndrome cell adhesion molecule precursor  
Size: 2012 amino acids; 222260 Da
Subunit: Interacts with DCC; the interaction is abolished in response to NTN1 (By similarity). Probably found in a
ternary complex composed of DSCAM, PAK1 and RAC1. Interacts (via extracellular domain) with NTN1. Interacts (via
cytoplasmic domain) with PAK1; the interaction is direct and enhanced in presence of RAC1. Interacts with RAC1;
the interaction requires PAK1
Secondary accessions: O60468
Alternative splicing: 2 isoforms:  O60469-1   O60469-2   

Explore the universe of human proteins at neXtProt for DSCAM: NX_O60469

Explore proteomics data for DSCAM at MOPED

Post-translational modifications: 

  • Phosphorylated at tyrosine residues. Phosphorylation is enhanced by netrin1
  • Glycosylation2 at Asn28, Asn78, Asn470, Asn487, Asn512, Asn556, Asn658, Asn666, Asn710, Asn748,
                                 Asn795, Asn924, Asn1142, Asn1160, Asn1250, Asn1271, Asn1341, Asn1488
  • Modification sites at PhosphoSitePlus

  • See DSCAM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258463.1  NP_001380.2  

    ENSEMBL proteins: 
     ENSP00000383303   ENSP00000385342  
    Reactome Protein details: O60469

    DSCAM Human Recombinant Protein Products:

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    DSCAM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DSCAM
    Cloud-Clone Corp. CLIAs for DSCAM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry O60469

    ProtoNet protein and cluster: O60469

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature


    UniProtKB/Swiss-Prot: DSCAM_HUMAN, O60469
    Domain: Ig-like C2-type domains 7 to 9 are sufficient for interaction with NTN1 and commissural axon outgrowth.
    The transmembrane domain is necessary for interaction with DCC (By similarity)
    Similarity: Contains 6 fibronectin type-III domains
    Similarity: Contains 10 Ig-like C2-type (immunoglobulin-like) domains


    DSCAM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSCAM_HUMAN, O60469
    Function: Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific
    neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and
    ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and
    heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies. Receptor
    for netrin required for axon guidance independently of and in collaboration with the receptor DCC. In spinal
    chord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline
    to reach the floor plate upon ligand binding. Enhances netrin-induced phosphorylation of PAK1 and FYN. Mediates
    intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38

         Genatlas biochemistry entry for DSCAM:
    neural cell adhesion molecule in the Down syndrome critical region,with several transcripts,largely expressed in
    the developing nervous system and adult brain,immunoglobulin superfamily,potentially involved in congenital heart
    disease

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19196994
         
    DSCAM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DSCAM:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Dscam):
     behavior/neurological  cellular  craniofacial  hearing/vestibular/ear  mortality/aging 
     muscle  nervous system  no phenotypic analysis  reproductive system  respiratory system 
     skeleton  vision/eye 

    DSCAM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DSCAM: Dscamtm1.1Kzy Dscamtm1.1Pfu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSCAM
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DSCAM

    miRNA
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    miRTarBase miRNAs that target DSCAM:
    hsa-mir-378a-5p (MIRT043970), hsa-mir-196b-5p (MIRT042664), hsa-mir-450a-5p (MIRT042397)

    Block miRNA regulation of human, mouse, rat DSCAM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSCAM (see all 16):
    hsa-miR-507 hsa-miR-340 hsa-miR-548m hsa-miR-548a-3p hsa-miR-4325 hsa-miR-924 hsa-miR-3674 hsa-miR-576-5p
    SwitchGear 3'UTR luciferase reporter plasmidDSCAM 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DSCAM

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCAM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DSCAM_HUMAN, O60469: Isoform Long: Cell membrane; Single-pass type I membrane protein (Potential). Note=Localized
    in the soma, cell membrane, axon and growth cone of dissociated commissural axons (By similarity)
    DSCAM_HUMAN, O60469: Isoform Short: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9426258
    GO:0016020membrane TAS9426258
    GO:0030424axon ISS--

    DSCAM for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DSCAM About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell-Cell communication0.64
    DSCAM interactions0.00
    2PAK Pathway
    PAK Pathway0.56
    3Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility
    4FOXA1 transcription factor network
    FOXA1 transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DSCAM
        Guidance Cues and Growth Cone Motility
    PAK Pathway

    1 BioSystems Pathway for DSCAM
        FOXA1 transcription factor network

    1 Reactome Pathway for DSCAM
        DSCAM interactions



    DSCAM for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DSCAM
    Interactions:

        GeneGlobe Interaction Network for DSCAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for DSCAM (O604693 ENSP000003833034) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NTN1O956313, ENSP000001732294I2D: score=1 STRING: ENSP00000173229
    PAK1Q131533, ENSP000002785684I2D: score=1 STRING: ENSP00000278568
    DCCP431463, ENSP000003891404I2D: score=1 STRING: ENSP00000389140
    ILKQ134183I2D: score=1 
    DSCAML1ENSP000003154654STRING: ENSP00000315465
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007162negative regulation of cell adhesion ISS--
    GO:0007399nervous system development TAS9426258
    GO:0007626locomotory behavior IEA--
    GO:0042327positive regulation of phosphorylation IDA19196994

    DSCAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DSCAM

    2 PharmGKB related drug/compound annotations for DSCAM gene    About this table
    Drug/compound PharmGKB Annotation
    carboplatinCA  
    paclitaxelCA  



    DSCAM for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DSCAM gene (2 alternative transcripts): 
    NM_001271534.1  NM_001389.3  

    Unigene Cluster for DSCAM:

    Down syndrome cell adhesion molecule
    Hs.397800  [show with all ESTs]
    Unigene Representative Sequence: NM_001389
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400454(uc002yyq.1 uc002yyr.1) ENST00000404019
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DSCAM (see all 16):
    hsa-miR-507 hsa-miR-340 hsa-miR-548m hsa-miR-548a-3p hsa-miR-4325 hsa-miR-924 hsa-miR-3674 hsa-miR-576-5p
    SwitchGear 3'UTR luciferase reporter plasmidDSCAM 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat DSCAM

    Additional mRNA sequence: 

    AB209136.1 AF023449.1 AF023450.1 AF086100.1 AF217525.1 AF289030.1 NR_073202.1 

    5 DOTS entries:

    DT.310506  DT.92418263  DT.97838264  DT.40298155  DT.121132242 

    1 AceView cDNA sequence:

    AL713083 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DSCAM    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b
    SP1:                                                
    SP2:                                      -         


    ECgene alternative splicing isoforms for DSCAM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DSCAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGGACAGC
    DSCAM Expression
    About this image


    DSCAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Definitive endoderm-like cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
    DSCAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSCAM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.397800

    UniProtKB/Swiss-Prot: DSCAM_HUMAN, O60469
    Tissue specificity: Primarily expressed in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCAM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DSCAM gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dscam1 , 5 Down syndrome cell adhesion molecule1, 5 90.11(n)1
    98.46(a)1
      16 (57.02 cM)5
    135081  NM_031174.41  NP_112451.11 
     965920795 
    chicken
    (Gallus gallus)
    Aves DSCAM1 Down syndrome cell adhesion molecule 84.1(n)
    94.42(a)
      418525  XM_416734.4  XP_416734.4 
    lizard
    (Anolis carolinensis)
    Reptilia DSCAM6
    Down syndrome cell adhesion molecule
    94(a)
    1 ↔ 1
    3(138792487-139227393)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.285662 Xenopus laevis transcribed sequence with moderate similarity more 79.56(n)    CD519815.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dscama1 Down syndrome cell adhesion molecule a 73.54(n)
    79.16(a)
      568643  NM_001030224.1  NP_001025395.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70603
    Dscam41
    Down syndrome cell adhesion molecule 41 34(a)
    (best of 3)3
    47.62(n)1
    35.73(a)1
      66C43
    27690081  NM_001144436.21  NP_001137908.11 


    ENSEMBL Gene Tree for DSCAM (if available)
    TreeFam Gene Tree for DSCAM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DSCAM gene
    FNDC3B2  SDK22  SDK12  DSCAML12  FNDC3A2  
    2 SIMAP similar genes for DSCAM using alignment to 2 protein entries:     DSCAM_HUMAN (see all proteins):
    DSCAML1    FGFR3

    DSCAM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DSCAM (see all 20367)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1999520491,2
    Cuntested141561045(+) TGATTC/TGGTCC 5 Q R nc-transcript-variantmis11Minor allele frequency- T:0.00EU 1323
    rs20776371,2
    C,A,H--32058178(-) AGTTAA/Gtgtgt 3 -- int10--------
    rs358357081,2
    C--32058178(+) CACAC-/ATTAACT 3 -- int10--------
    rs1406122551,2
    C--32478628(+) GATAA-/TATAAG
            
    TATAC
    3 -- int10--------
    rs30708141,2
    C--32524398(+) ttttt-/T/TTT 
            
    ctgag
    3 -- int1 trp31NA 2
    rs558788111,2
    C--32579867(+) CTATC-/T/TATC
    /TATCTATC
    ATCTC
    3 -- int11CSA 2
    rs560930651,2
    C--32680326(+) TTTAT-/TTAT/ 
    TTATTTAT
    GAGAC
    3 -- int11NA 2
    rs711869731,2
    C--32763710(-) TTTTT-/ACAC  
      ACACAC
    ACACA
    3 -- int11Minor allele frequency- ACACACACAC:0.00NA 2
    rs732213331,2
    C--41383937(+) CATTGT/CGCCAT 3 -- ds50013Minor allele frequency- C:0.23NA EA 242
    rs1996806071,2
    --41384000(+) CTTTA-/TTTTAA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for DSCAM (41382926 - 41632926 bp, first 250kb of DSCAM)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DSCAM (see all 73):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723457CNV Deletion23290073
    esv2723460CNV Deletion23290073
    esv2038671CNV Deletion18987734
    esv1606716CNV Deletion17803354
    esv2723470CNV Deletion23290073
    esv4711CNV Deletion18987735
    esv2723459CNV Deletion23290073
    esv2723469CNV Deletion23290073
    esv2723458CNV Deletion23290073
    esv2723468CNV Deletion23290073

    Human Gene Mutation Database (HGMD): DSCAM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DSCAM
    DNA2.0 Custom Variant and Variant Library Synthesis for DSCAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602523    OMIM disorders: --

    15 diseases for DSCAM:    
    About MalaCards
    down syndrome    cystic lymphangioma    lymphangioma    intellectual disability
    pulmonary function    bipolar disorder    type 1 diabetes    retinitis
    obesity    lung cancer    hiv-1    cerebritis
    malaria    endotheliitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for DSCAM:
    Down syndrome     Cystic lymphangioma

    DSCAM for disorders           About GeneDecksing

    Genetic Association Database (GAD): DSCAM
    Human Genome Epidemiology (HuGE) Navigator: DSCAM (7 documents)

    Export disorders for DSCAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DSCAM gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with DSCAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. (PubMed id 9426258)1, 2, 3 Yamakawa K.... Korenberg J.R. (Hum. Mol. Genet. 1998)
    2. Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion. (PubMed id 10925149)1, 2, 9 Agarwala K.L.... Yamakawa K. (Brain Res. Mol. Brain Res. 2000)
    3. Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. (PubMed id 21079520)1, 4 Sato Y....Tamura T. (J Thorac Oncol 2011)
    4. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1, 4 Ramsuran V....Ndung'u T. (Clin. Infect. Dis. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    7. DSCAM functions as a netrin receptor in commissural axon pathfinding. (PubMed id 19196994)1, 2 Liu G.... Wu J.Y. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    8. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    9. Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder. (PubMed id 18197079)1, 4 Amano K....Yamakawa K. (Psychiatr. Genet. 2008)
    10. DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1. (PubMed id 18585357)1, 2 Ly A.... Stein E. (Cell 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1826 HGNC: 3039 AceView: DSCAM.1 Ensembl:ENSG00000171587 euGenes: HUgn1826
    ECgene: DSCAM H-InvDB: DSCAM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DSCAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DSCAM gene:
    Search GeneIP for patents involving DSCAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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