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DSCAML1 Gene

protein-coding   GIFtS: 55
GCID: GC11M117332

Down Syndrome Cell Adhesion Molecule Like 1

  See DSCAML1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Down Syndrome Cell Adhesion Molecule Like 11 2
Down Syndrome Cell Adhesion Molecule 22 3
KIAA11323 5
Down Syndrome Cell Adhesion Molecule-Like Protein 12
Downs Syndrome Cell Adhesion Molecule Like 12
DSCAM23

External Ids:    HGNC: 146561   Entrez Gene: 574532   Ensembl: ENSG000001771037   OMIM: 6117825   UniProtKB: Q8TD843   

Export aliases for DSCAML1 gene to outside databases

Previous GC identifers: GC11M119651 GC11M118810 GC11M116836 GC11M116803 GC11M113232


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DSCAML1 Gene:
DSCAML1 (Down syndrome cell adhesion molecule like 1) is a protein-coding gene. Diseases associated with DSCAML1 include down syndrome. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is FNDC3B.

UniProtKB/Swiss-Prot: DSCL1_HUMAN, Q8TD84
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. Promotes both isoneuronal self-avoidance
for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to
maintain mosaic spacing between AII amacrine cells (By similarity)




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSCAML1 gene promoter:
         AREB6   PPAR-gamma1   HTF   Lmo2   PPAR-gamma2   ZIC2/Zic2   LCR-F1   ITF-2   Tal-1beta   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSCAML1 promoter sequence
   Search Chromatin IP Primers for DSCAML1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSCAML1


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q22.2-q22.3

DSCAML1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCAML1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M117332:  view genomic region     (about GC identifiers)

Start:
117,298,489 bp from pter      End:
117,688,240 bp from pter
Size:
389,752 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DSCL1_HUMAN, Q8TD84 (See protein sequence)
Recommended Name: Down syndrome cell adhesion molecule-like protein 1 precursor  
Size: 2053 amino acids; 224463 Da
Sequence caution: Sequence=AAM09558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA86446.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for DSCAML1:
1VA9 (3D)    
Secondary accessions: Q76MU9 Q8IZY3 Q8IZY4 Q8WXU7 Q9ULT7
Alternative splicing: 2 isoforms:  Q8TD84-1   Q8TD84-2   

Explore the universe of human proteins at neXtProt for DSCAML1: NX_Q8TD84

Explore proteomics data for DSCAML1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn29, Asn79, Asn368, Asn471, Asn513, Asn556, Asn666, Asn710, Asn749, Asn796,
                                 Asn809, Asn926, Asn1082, Asn1144, Asn1162, Asn1275, Asn1345, Asn1492, Asn1531, Asn1561
  • Modification sites at PhosphoSitePlus

  • See DSCAML1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065744.2  
    ENSEMBL proteins: 
     ENSP00000434335   ENSP00000315465   ENSP00000436387  
    Reactome Protein details: Q8TD84

    DSCAML1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSCAML1

     
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    DSCAML1 Assay Products:

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    Search eBioscience for ELISAs for DSCAML1 


    (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 Q8TD84

    ProtoNet protein and cluster: Q8TD84

    1 Blocks protein domain: IPB013098 Immunoglobulin I-set

    UniProtKB/Swiss-Prot: DSCL1_HUMAN, Q8TD84
    Similarity: Contains 6 fibronectin type-III domains
    Similarity: Contains 10 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with DSCAML1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSCL1_HUMAN, Q8TD84
    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. Promotes both isoneuronal self-avoidance
    for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to
    maintain mosaic spacing between AII amacrine cells (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IDA11453658
         
    Find genes that share ontologies with DSCAML1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DSCAML1:
     Cells with protrusions 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dscaml1):
     mortality/aging  nervous system  vision/eye 

    Find genes that share phenotypes with DSCAML1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSCAML1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DSCAML1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DSCAML1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DSCAML1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DSCAML1:
    hsa-mir-124-3p (MIRT022810)

    Block miRNA regulation of human, mouse, rat DSCAML1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSCAML1 (see all 17):
    hsa-miR-579 hsa-miR-376b hsa-miR-25 hsa-miR-3921 hsa-miR-548m hsa-miR-92b hsa-miR-571 hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidDSCAML1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DSCAML1
    Predesigned siRNA for gene silencing in human, mouse, rat DSCAML1

    Gene Editing
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    OriGene ORF clones in mouse, rat for DSCAML1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DSCAML1 (NM_020693)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSCAML1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DSCAML1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for DSCAML1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCAML1


    (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
    DSCL1_HUMAN, Q8TD84: Cell membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA11453658
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with DSCAML1           About GenesLikeMe


    (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 DSCAML1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell-Cell communication0.64
    DSCAM interactions0.00


    Find genes that share SuperPaths with DSCAML1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DSCAML1
        DSCAM interactions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DSCAML1
    Interactions:

        Search GeneGlobe Interaction Network for DSCAML1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for DSCAML1 (Q8TD843 ENSP000003154654) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCL2Q9UPR03, ENSP000004096374I2D: score=3 STRING: ENSP00000409637
    MAGI2Q86UL83, ENSP000003461514I2D: score=2 STRING: ENSP00000346151
    MAGI3Q5TCQ93, ENSP000003046044I2D: score=3 STRING: ENSP00000304604
    DSCAMENSP000003833034STRING: ENSP00000383303
    ABI2ENSP000002610174STRING: ENSP00000261017
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001709cell fate determination NAS12051741
    GO:0007156homophilic cell adhesion IDA11453658
    GO:0007162negative regulation of cell adhesion IEA--
    GO:0007409axonogenesis NAS11453658
    GO:0007417central nervous system development NAS12051741

    Find genes that share ontologies with DSCAML1           About GenesLikeMe



    (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 DSCAML1 (DSCL1)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DSCAML1 gene: 
    NM_020693.2  

    Unigene Cluster for DSCAML1:

    Down syndrome cell adhesion molecule like 1
    Hs.659513  [show with all ESTs]
    Unigene Representative Sequence: AF491813
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527706 ENST00000321322(uc001prh.1 uc001pri.1) ENST00000525836

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DSCAML1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSCAML1 (see all 17):
    hsa-miR-579 hsa-miR-376b hsa-miR-25 hsa-miR-3921 hsa-miR-548m hsa-miR-92b hsa-miR-571 hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidDSCAML1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DSCAML1
    Predesigned siRNA for gene silencing in human, mouse, rat DSCAML1
    Clone
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    OriGene ORF clones in mouse, rat for DSCAML1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DSCAML1 (NM_020693)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSCAML1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DSCAML1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DSCAML1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSCAML1
      QuantiTect SYBR Green Assays in human, mouse, rat DSCAML1
      QuantiFast Probe-based Assays in human, mouse, rat DSCAML1

    Additional mRNA sequence: 

    AB032958.2 AF304304.1 AF304305.1 AF334384.1 AF491813.1 AK025940.1 

    6 DOTS entries:

    DT.75134403  DT.97825929  DT.100748976  DT.95193172  DT.97840391  DT.97803583 

    Selected AceView cDNA sequences (see all 45):

    NM_020693 BM694015 BU957614 AF491813 AI498283 AF304305 BM717919 BM665756 
    AB032958 BM982372 BU538544 CD630334 BF528580 AK025940 BM927220 CK819152 
    BG912843 BM127803 BF955898 BM680182 AF334384 BM726574 BX119170 CD630336 

    GeneLoc Exon Structure


    (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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    DSCAML1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGATTTTACT
    DSCAML1 Expression
    About this image


    DSCAML1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Testis (Reproductive System)
    DSCAML1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSCAML1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659513

    UniProtKB/Swiss-Prot: DSCL1_HUMAN, Q8TD84
    Tissue specificity: Detected in heart, liver, pancreas, skeletal muscle, kidney and in brain, in particular in the
    amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra, thalamus and subthalamus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCAML1

    (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 DSCAML1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dscaml11 , 5 Down syndrome cell adhesion molecule like 11, 5 91.14(n)1
    98.15(a)1
      9 (24.84 cM)5
    1148731  NM_001081270.11  NP_001074739.11 
     454302935 
    chicken
    (Gallus gallus)
    Aves DSCAML11 Down syndrome cell adhesion molecule like 1 85.18(n)
    92.44(a)
      428249  XM_003642612.2  XP_003642660.2 
    lizard
    (Anolis carolinensis)
    Reptilia DSCAML16
    Down syndrome cell adhesion molecule like 1
    91(a)
    1 ↔ 1
    GL343521.1(435398-474697)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dscaml11 Down syndrome cell adhesion molecule like 1 74.6(n)
    86.17(a)
      100491996  XM_004916066.1  XP_004916123.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dscaml11 Down syndrome cell adhesion molecule like 1 76.23(n)
    84.22(a)
      100002762  XM_005157495.1  XP_005157552.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70603
    Dscam1
    Down syndrome cell adhesion molecule1 34(a)
    (best of 3)3
    47.68(n)1
    34.55(a)1
      66C43
    356521  NM_165514.11  NP_724543.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C53A5.136
    Protein C53A5.13, isoform a
    17(a)
    many ↔ many
    V(14546921-14554540) WBGene00008270


    ENSEMBL Gene Tree for DSCAML1 (if available)
    TreeFam Gene Tree for DSCAML1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DSCAML1 gene
    FNDC3B2  SDK22  SDK12  DSCAM2  FNDC3A2  
    2 SIMAP similar genes for DSCAML1 using alignment to 3 protein entries:     DSCL1_HUMAN (see all proteins):
    DSCAM    MUSK

    Find genes that share paralogs with DSCAML1           About GenesLikeMe



    (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 DSCAML1 (see all 8243)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355134
    A colorectal cancer sample4--see VAR_0355132 V I mis40--------
    VAR_0355124
    A colorectal cancer sample4--see VAR_0355122 V I mis40--------
    rs598498541,2
    C--113453086(+) TGTGT-/GTGTGTGTGT
    /GTGTGTGTGTGT
    ATTTT
    1 -- int11NA 2
    rs354762671,2
    C--113561933(+) ACACA-/CACA  
      CACACA
    ATTAT
    1 -- int11Minor allele frequency- CACACACACA:0.00NA 2
    rs1486204161,2
    --117298226(+) CCTCCA/GTTTAC 1 -- ds50010--------
    rs1896810681,2
    --117298274(+) TGCACC/GAAGCC 1 -- ds50010--------
    rs1930482021,2
    --117298282(+) GCCACC/TGACCT 1 -- ds50010--------
    rs1844742031,2
    --117298300(+) CTTGCA/GGGCCC 1 -- ds50010--------
    rs1420958991,2
    --117298346(+) GCTAAC/TTGCAA 1 -- ds50010--------
    rs116004631,2
    C,H--117298372(+) AGAGCA/GCTGAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DSCAML1 (117298489 - 117548489 bp, first 250kb of DSCAML1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DSCAML1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660899CNV Deletion23128226
    esv1005765CNV Deletion20482838
    dgv246e199CNV Deletion23128226
    esv2657601CNV Deletion23128226
    esv1008110CNV Deletion20482838
    nsv508CNV Insertion18451855
    nsv509CNV Insertion18451855
    nsv527773CNV Loss19592680
    nsv521775CNV Loss19592680
    nsv519857CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (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: 611782    OMIM disorders: --

    1 disease for DSCAML1:    
    About MalaCards
    down syndrome


    Find genes that share disorders with DSCAML1           About GenesLikeMe

    Genetic Association Database (GAD): DSCAML1
    Human Genome Epidemiology (HuGE) Navigator: DSCAML1 (3 documents)

    Export disorders for DSCAML1 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 DSCAML1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with DSCAML1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of DSCAML1, a novel DSCAM- like cell adhesion molecule that mediates homophilic intercellular adhesion. (PubMed id 11453658)1, 2, 3 Agarwala K.L....Yamakawa K. (Biochem. Biophys. Res. Commun. 2001)
    2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    3. 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)
    4. 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)
    5. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PubMed id 19074352)1, 4 Pollin T.I....Shuldiner A.R. (Science 2008)
    6. Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum? (PubMed id 12051741)1, 2 Barlow G.M.... Korenberg J.R. (Biochem. Biophys. Res. Commun. 2002)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    8. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)
    9. Genome-wide association study of age at menarche in African-American women. (PubMed id 23599027)1 Demerath E.W....Haiman C.A. (Hum. Mol. Genet. 2013)
    10. DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina. (PubMed id 19945391)1 Fuerst P.G....Burgess R.W. (Neuron 2009)

    (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: 57453 HGNC: 14656 AceView: DSCAML1 Ensembl:ENSG00000177103 euGenes: HUgn57453
    ECgene: DSCAML1 H-InvDB: DSCAML1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1132

    (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 DSCAML1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DSCAML1 gene:
    Search GeneIP for patents involving DSCAML1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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