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Aliases for DSCAM Gene

Aliases for DSCAM Gene

  • Down Syndrome Cell Adhesion Molecule 2 3
  • CHD2 3 4
  • CHD2-42 3
  • CHD2-52 3

External Ids for DSCAM Gene

Previous GeneCards Identifiers for DSCAM Gene

  • GC21M037958
  • GC21M040305
  • GC21M040306
  • GC21M041382
  • GC21M026864

Summaries for DSCAM Gene

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 congenital heart disease. Among its related pathways are PAK Pathway and Cell junction organization. An important paralog of this gene is DSCAML1.

UniProtKB/Swiss-Prot for DSCAM Gene

  • 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 (PubMed:10925149). 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 (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSCAM Gene

Genomics for DSCAM Gene

Regulatory Elements for DSCAM Gene

Genomic Location for DSCAM Gene

Chromosome:
21
Start:
40,010,999 bp from pter
End:
40,847,139 bp from pter
Size:
836,141 bases
Orientation:
Minus strand

Genomic View for DSCAM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSCAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCAM Gene

Proteins for DSCAM Gene

  • Protein details for DSCAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60469-DSCAM_HUMAN
    Recommended name:
    Down syndrome cell adhesion molecule
    Protein Accession:
    O60469
    Secondary Accessions:
    • O60468

    Protein attributes for DSCAM Gene

    Size:
    2012 amino acids
    Molecular mass:
    222260 Da
    Quaternary structure:
    • Homodimer; mediates homophilic interactions to promote cell adhesion (By similarity). 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 (PubMed:15169762). Interacts (via extracellular domain) with NTN1 (PubMed:19196994). Interacts (via cytoplasmic domain) with PAK1; the interaction is direct and enhanced in presence of RAC1. Interacts with RAC1; the interaction requires PAK1.

    Alternative splice isoforms for DSCAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSCAM Gene

Proteomics data for DSCAM Gene at MOPED

Post-translational modifications for DSCAM Gene

  • Phosphorylated at tyrosine residues. Phosphorylation is enhanced by netrin.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DSCAM Gene

No data available for DME Specific Peptides for DSCAM Gene

Domains & Families for DSCAM Gene

Suggested Antigen Peptide Sequences for DSCAM Gene

Graphical View of Domain Structure for InterPro Entry

O60469

UniProtKB/Swiss-Prot:

DSCAM_HUMAN :
  • 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).
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).
  • Contains 6 fibronectin type-III domains.
  • Contains 10 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with DSCAM: view

Function for DSCAM Gene

Molecular function for DSCAM Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 (PubMed:10925149). 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 (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).

Gene Ontology (GO) - Molecular Function for DSCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19196994
genes like me logo Genes that share ontologies with DSCAM: view
genes like me logo Genes that share phenotypes with DSCAM: view

Animal Models for DSCAM Gene

MGI Knock Outs for DSCAM:

Animal Model Products

miRNA for DSCAM Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSCAM Gene

Localization for DSCAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSCAM Gene

Isoform Short: Secreted.
Isoform Long: Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Cell junction, synapse. Note=Localized in the soma, cell membrane, axon and growth cone of dissociated commissural axons. {ECO:0000250 UniProtKB:Q9ERC8}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSCAM Gene COMPARTMENTS Subcellular localization image for DSCAM gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytosol 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DSCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9426258
GO:0016020 membrane TAS 9426258
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with DSCAM: view

Pathways & Interactions for DSCAM Gene

genes like me logo Genes that share pathways with DSCAM: view

Pathways by source for DSCAM Gene

2 Qiagen pathways for DSCAM Gene
1 Cell Signaling Technology pathway for DSCAM Gene
1 BioSystems pathway for DSCAM Gene
2 Reactome pathways for DSCAM Gene

Gene Ontology (GO) - Biological Process for DSCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 9426258
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007162 negative regulation of cell adhesion ISS --
GO:0007399 nervous system development TAS 9426258
GO:0007416 synapse assembly ISS --
genes like me logo Genes that share ontologies with DSCAM: view

No data available for SIGNOR curated interactions for DSCAM Gene

Drugs & Compounds for DSCAM Gene

(2) Drugs for DSCAM Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1812
Paclitaxel Approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2505
genes like me logo Genes that share compounds with DSCAM: view

Transcripts for DSCAM Gene

mRNA/cDNA for DSCAM Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DSCAM Gene

Down syndrome cell adhesion molecule:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSCAM Gene

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: -

Relevant External Links for DSCAM Gene

GeneLoc Exon Structure for
DSCAM
ECgene alternative splicing isoforms for
DSCAM

Expression for DSCAM Gene

mRNA expression in normal human tissues for DSCAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSCAM Gene

This gene is overexpressed in Brain - Amygdala (x5.1), Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Cortex (x4.7), Brain - Hypothalamus (x4.7), Pituitary (x4.5), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for DSCAM Gene

This gene is overexpressed in Heart (57.2) and Pancreatic juice (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DSCAM Gene



SOURCE GeneReport for Unigene cluster for DSCAM Gene Hs.397800

mRNA Expression by UniProt/SwissProt for DSCAM Gene

O60469-DSCAM_HUMAN
Tissue specificity: Primarily expressed in brain
genes like me logo Genes that share expression patterns with DSCAM: view

Protein tissue co-expression partners for DSCAM Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DSCAM Gene

This gene was present in the common ancestor of animals.

Orthologs for DSCAM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DSCAM 35
  • 90.94 (n)
  • 98.26 (a)
DSCAM 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCAM 35
  • 92.85 (n)
  • 98.69 (a)
DSCAM 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dscam 35
  • 90.11 (n)
  • 98.46 (a)
Dscam 16
Dscam 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSCAM 35
  • 99.5 (n)
  • 100 (a)
DSCAM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dscam 35
  • 89.88 (n)
  • 98.41 (a)
oppossum
(Monodelphis domestica)
Mammalia DSCAM 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves DSCAM 35
  • 84.1 (n)
  • 94.42 (a)
DSCAM 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCAM 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscam 35
  • 80.19 (n)
  • 90.63 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28566 35
zebrafish
(Danio rerio)
Actinopterygii dscama 35
  • 73.54 (n)
  • 79.16 (a)
dscama 36
  • 78 (a)
ManyToMany
dscamb 36
  • 79 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG18630 37
  • 28 (a)
CG7060 37
  • 34 (a)
Dscam 37
  • 33 (a)
Dscam4 35
  • 47.62 (n)
  • 35.73 (a)
sdk 36
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007092 35
  • 46.82 (n)
  • 35.52 (a)
Species with no ortholog for DSCAM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSCAM Gene

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

Paralogs for DSCAM Gene

Paralogs for DSCAM Gene

(2) SIMAP similar genes for DSCAM Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DSCAM: view

Variants for DSCAM Gene

Sequence variations from dbSNP and Humsavar for DSCAM Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_020080 -

Structural Variations from Database of Genomic Variants (DGV) for DSCAM Gene

Variant ID Type Subtype PubMed ID
nsv7346 OTHER Inversion 18451855
esv998773 OTHER Inversion 20482838
nsv513717 OTHER Inversion 21212237
nsv436673 OTHER Inversion 17901297
esv1433285 OTHER Inversion 17803354
nsv913745 CNV Loss 21882294
esv272395 CNV Insertion 20981092
esv270840 CNV Insertion 20981092
nsv523501 CNV Gain 19592680
esv2723446 CNV Deletion 23290073
esv26953 CNV Loss 19812545
esv4745 CNV Deletion 18987735
dgv812e199 CNV Deletion 23128226
esv2723447 CNV Deletion 23290073
dgv751e201 CNV Deletion 23290073
dgv752e201 CNV Deletion 23290073
esv2723452 CNV Deletion 23290073
nsv3525 CNV Insertion 18451855
nsv820759 CNV Deletion 20802225
esv29266 CNV Gain+Loss 19812545
dgv753e201 CNV Deletion 23290073
esv2723455 CNV Deletion 23290073
nsv913746 CNV Loss 21882294
nsv513574 CNV Insertion 21212237
nsv519745 CNV Loss 19592680
esv33309 CNV Gain 17666407
esv2399855 CNV Deletion 18987734
esv2723457 CNV Deletion 23290073
esv1290970 CNV Deletion 17803354
nsv510506 CNV Loss 20534489
esv267936 CNV Insertion 20981092
esv25266 CNV Loss 19812545
esv2519317 CNV Insertion 19546169
nsv834100 CNV Gain 17160897
nsv528658 CNV Loss 19592680
nsv520586 CNV Loss 19592680
esv2723458 CNV Deletion 23290073
esv2723459 CNV Deletion 23290073
esv2555910 CNV Deletion 19546169
esv4711 CNV Deletion 18987735
esv2723460 CNV Deletion 23290073
nsv187207 CNV Loss 16902084
esv2363998 CNV Deletion 18987734
esv2723462 CNV Deletion 23290073
esv1606716 CNV Deletion 17803354
nsv187221 CNV Loss 16902084
esv1285936 CNV Insertion 17803354
nsv187130 CNV Loss 16902084
esv2723463 CNV Deletion 23290073
esv2723464 CNV Deletion 23290073
esv268811 CNV Insertion 20981092
esv2723465 CNV Deletion 23290073
esv1942233 CNV Deletion 18987734
esv2723466 CNV Deletion 23290073
esv2601819 CNV Deletion 19546169
nsv187086 CNV Loss 16902084
esv1934003 CNV Deletion 18987734
esv1557821 CNV Insertion 17803354
esv2723467 CNV Deletion 23290073
esv1662014 CNV Deletion 17803354
nsv187104 CNV Loss 16902084
esv2723468 CNV Deletion 23290073
esv2038671 CNV Deletion 18987734
esv2723469 CNV Deletion 23290073
esv4710 CNV Deletion 18987735
esv1502218 CNV Deletion 17803354
nsv913747 CNV Loss 21882294
nsv3526 CNV Loss 18451855
esv2723470 CNV Deletion 23290073
nsv913748 CNV Loss 21882294
nsv3527 CNV Insertion 18451855
esv2723471 CNV Deletion 23290073
nsv834101 CNV Gain 17160897

Variation tolerance for DSCAM Gene

Residual Variation Intolerance Score: .19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSCAM Gene

HapMap Linkage Disequilibrium report
DSCAM
Human Gene Mutation Database (HGMD)
DSCAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCAM Gene

Disorders for DSCAM Gene

MalaCards: The human disease database

(2) MalaCards diseases for DSCAM Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21 syndrome
congenital heart disease
  • congestive heart failure
- elite association
Search DSCAM in MalaCards View complete list of genes associated with diseases

Relevant External Links for DSCAM

Genetic Association Database (GAD)
DSCAM
Human Genome Epidemiology (HuGE) Navigator
DSCAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSCAM
genes like me logo Genes that share disorders with DSCAM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSCAM Gene

Publications for DSCAM Gene

  1. Dscam and DSCAM: complex genes in simple animals, complex animals yet simple genes. (PMID: 19171779) Schmucker D. … Chen B. (Genes Dev. 2009) 23 67
  2. DSCAM: an endogenous promoter drives expression in the developing CNS and neural crest. (PMID: 12435380) Barlow G.M. … Korenberg J.R. (Biochem. Biophys. Res. Commun. 2002) 23 67
  3. DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain. (PMID: 11237714) Agarwala K.L. … Yamakawa K. (Biochem. Biophys. Res. Commun. 2001) 23 67
  4. Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion. (PMID: 10925149) Agarwala K.L. … Yamakawa K. (Brain Res. Mol. Brain Res. 2000) 23 67
  5. DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. (PMID: 9426258) Yamakawa K. … Korenberg J.R. (Hum. Mol. Genet. 1998) 2 67

Products for DSCAM Gene

Sources for DSCAM Gene

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