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DSCAM (DS cell adhesion molecule)

Identity

Alias_namesDown syndrome cell adhesion molecule
Alias_symbol (synonym)CHD2-42
CHD2-52
Other aliasCHD2
HGNC (Hugo) DSCAM
LocusID (NCBI) 1826
Atlas_Id 62647
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 40012416 and ends at 40847113 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DDX60L (4q32.3) / DSCAM (21q22.2)DSCAM (21q22.2) / DCAF7 (17q23.3)DSCAM (21q22.2) / DSCAM (21q22.2)
DSCAM (21q22.2) / EXT1 (8q24.11)DSCAM (21q22.2) / TMOD1 (9q22.33)PLAC1 (Xq26.3) / DSCAM (21q22.2)
PLAC1 DSCAMDDX60L DSCAM

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DSCAM   3039
Cards
Entrez_Gene (NCBI)DSCAM  1826  DS cell adhesion molecule
AliasesCHD2; CHD2-42; CHD2-52
GeneCards (Weizmann)DSCAM
Ensembl hg19 (Hinxton)ENSG00000171587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171587 [Gene_View]  chr21:40012416-40847113 [Contig_View]  DSCAM [Vega]
ICGC DataPortalENSG00000171587
TCGA cBioPortalDSCAM
AceView (NCBI)DSCAM
Genatlas (Paris)DSCAM
WikiGenes1826
SOURCE (Princeton)DSCAM
Genetics Home Reference (NIH)DSCAM
Genomic and cartography
GoldenPath hg38 (UCSC)DSCAM  -     chr21:40012416-40847113 -  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSCAM  -     21q22.2   [Description]    (hg19-Feb_2009)
EnsemblDSCAM - 21q22.2 [CytoView hg19]  DSCAM - 21q22.2 [CytoView hg38]
Mapping of homologs : NCBIDSCAM [Mapview hg19]  DSCAM [Mapview hg38]
OMIM602523   
Gene and transcription
Genbank (Entrez)AB209136 AF023449 AF023450 AF086100 AF217525
RefSeq transcript (Entrez)NM_001271534 NM_001389
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSCAM
Cluster EST : UnigeneHs.397800 [ NCBI ]
CGAP (NCI)Hs.397800
Alternative Splicing GalleryENSG00000171587
Gene ExpressionDSCAM [ NCBI-GEO ]   DSCAM [ EBI - ARRAY_EXPRESS ]   DSCAM [ SEEK ]   DSCAM [ MEM ]
Gene Expression Viewer (FireBrowse)DSCAM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1826
GTEX Portal (Tissue expression)DSCAM
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60469   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60469  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60469
Splice isoforms : SwissVarO60469
PhosPhoSitePlusO60469
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)DSCAM    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Ig_V-set   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  IGv (SM00406)  
Conserved Domain (NCBI)DSCAM
DMDM Disease mutations1826
Blocks (Seattle)DSCAM
SuperfamilyO60469
Human Protein AtlasENSG00000171587
Peptide AtlasO60469
HPRD03953
IPIIPI00029700   IPI00219339   IPI00791412   
Protein Interaction databases
DIP (DOE-UCLA)O60469
IntAct (EBI)O60469
FunCoupENSG00000171587
BioGRIDDSCAM
STRING (EMBL)DSCAM
ZODIACDSCAM
Ontologies - Pathways
QuickGOO60469
Ontology : AmiGOprotein binding  extracellular region  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  negative regulation of cell adhesion  nervous system development  synapse assembly  locomotory behavior  retina layer formation  membrane  cell junction  axon  growth cone  positive regulation of phosphorylation  synapse  dendrite morphogenesis  positive regulation of axon extension involved in axon guidance  post-embryonic retina morphogenesis in camera-type eye  camera-type eye photoreceptor cell differentiation  dendrite self-avoidance  
Ontology : EGO-EBIprotein binding  extracellular region  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  negative regulation of cell adhesion  nervous system development  synapse assembly  locomotory behavior  retina layer formation  membrane  cell junction  axon  growth cone  positive regulation of phosphorylation  synapse  dendrite morphogenesis  positive regulation of axon extension involved in axon guidance  post-embryonic retina morphogenesis in camera-type eye  camera-type eye photoreceptor cell differentiation  dendrite self-avoidance  
NDEx NetworkDSCAM
Atlas of Cancer Signalling NetworkDSCAM
Wikipedia pathwaysDSCAM
Orthology - Evolution
OrthoDB1826
GeneTree (enSembl)ENSG00000171587
Phylogenetic Trees/Animal Genes : TreeFamDSCAM
HOVERGENO60469
HOGENOMO60469
Homologs : HomoloGeneDSCAM
Homology/Alignments : Family Browser (UCSC)DSCAM
Gene fusions - Rearrangements
Fusion: TCGAPLAC1 DSCAM
Fusion: TCGADDX60L DSCAM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSCAM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSCAM
dbVarDSCAM
ClinVarDSCAM
1000_GenomesDSCAM 
Exome Variant ServerDSCAM
ExAC (Exome Aggregation Consortium)DSCAM (select the gene name)
Genetic variants : HAPMAP1826
Genomic Variants (DGV)DSCAM [DGVbeta]
DECIPHERDSCAM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSCAM 
Mutations
ICGC Data PortalDSCAM 
TCGA Data PortalDSCAM 
Broad Tumor PortalDSCAM
OASIS PortalDSCAM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSCAM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSCAM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DSCAM
DgiDB (Drug Gene Interaction Database)DSCAM
DoCM (Curated mutations)DSCAM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSCAM (select a term)
intoGenDSCAM
Cancer3DDSCAM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602523   
Orphanet
MedgenDSCAM
Genetic Testing Registry DSCAM
NextProtO60469 [Medical]
TSGene1826
GENETestsDSCAM
Target ValidationDSCAM
Huge Navigator DSCAM [HugePedia]
snp3D : Map Gene to Disease1826
BioCentury BCIQDSCAM
ClinGenDSCAM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1826
Chemical/Pharm GKB GenePA27491
Clinical trialDSCAM
Miscellaneous
canSAR (ICR)DSCAM (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSCAM
EVEXDSCAM
GoPubMedDSCAM
iHOPDSCAM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:06:40 CEST 2017

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