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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... See more...
Aliases for DSCAM Gene
Aliases for DSCAM Gene
External Ids for DSCAM Gene
- HGNC: 3039
- Entrez Gene: 1826
- Ensembl: ENSG00000171587
- OMIM: 602523
- UniProtKB: O60469
Previous GeneCards Identifiers for DSCAM Gene
- GC21M037958
- GC21M040305
- GC21M040306
- GC21M041382
- GC21M026864
Summaries 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 (DS Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with DSCAM include Down Syndrome and Enterokinase Deficiency. Among its related pathways are Guidance Cues and Growth Cone Motility and FOXA1 transcription factor network. An important paralog of this gene is DSCAML1.
UniProtKB/Swiss-Prot Summary 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. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord 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).
Additional gene information for DSCAM Gene
- HGNC(3039)
- Entrez Gene(1826)
- Ensembl(ENSG00000171587)
- OMIM(602523)
- UniProtKB(O60469)
- Open Targets Platform(ENSG00000171587)
- Monarch Initiative
- Search for DSCAM at DataMed
- Search for DSCAM at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSCAM Gene
Genomics for DSCAM Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DSCAM Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH21J040844 | Promoter/Enhancer | 1.4 | EPDnew FANTOM5 Ensembl ENCODE | 619.8 | +1.2 | 1222 | 3.3 | POLR2A ATF7 RAD21 ZNF316 USF1 ZBTB26 ZBTB17 MAFK ATF2 TBP | DSCAM piR-38352-351 PCP4 | |
| GH21J040185 | Enhancer | 0.5 | Ensembl ENCODE | 36.6 | +660.3 | 660292 | 2.4 | POLR2A NR2F2 | DSCAM HSALNG0133165 lnc-PCP4-3 PCP4 | |
| GH21J040176 | Enhancer | 0.6 | Ensembl ENCODE | 26.2 | +670.5 | 670458 | 1 | RAD21 RFX1 POLR2A RCOR1 CHD2 | DSCAM HSALNG0133165 lnc-PCP4-3 PCP4 | |
| GH21J040603 | Enhancer | 0.2 | FANTOM5 | 13.6 | +243.6 | 243615 | 0.3 | DSCAM lnc-BACE2-5 DSCAM-IT1 PCP4 | ||
| GH21J040255 | Enhancer | 0.5 | Ensembl | 5.1 | +590.8 | 590757 | 4 | RAD21 RCOR1 FOS CHD2 GATA2 | DSCAM piR-30876-070 piR-36588-258 PCP4 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DSCAM on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSCAM
- Top Transcription factor binding sites by QIAGEN in the DSCAM gene promoter:
-
- aMEF-2
- AREB6
- ATF-2
- Cart-1
- ITF-2
- MEF-2A
- Pbx1a
- S8
- SRY
- ZID
Genomic Locations for DSCAM Gene
Genomic Locations for DSCAM Gene
- chr21:40,010,999-40,847,158
- (GRCh38/hg38)
- Size:
- 836,160 bases
- Orientation:
- Minus strand
- chr21:41,382,926-42,219,065
- (GRCh37/hg19)
- Size:
- 836,140 bases
- Orientation:
- Minus strand
Genomic View for DSCAM Gene
Genes around DSCAM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.2 by HGNC
- 21q22.2 by Entrez Gene
- 21q22.2 by Ensembl
DSCAM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts (via extracellular domain) with NTN1 (PubMed:19196994). Probably found in a ternary complex composed of DSCAM, PAK1 and RAC1 (PubMed:15169762). Interacts (via cytoplasmic domain) with PAK1; the interaction is direct and enhanced in presence of RAC1 (PubMed:15169762). Interacts with RAC1; the interaction requires PAK1 (PubMed:15169762). Interacts (via extracellular domain) with UNC5C (via Ig-like C2-type domain) (PubMed:22685302). Interacts with PTK2 (By similarity). Interacts with FYN (By similarity).
Protein Expression for DSCAM Gene
Post-translational modifications for DSCAM Gene
- Phosphorylated at tyrosine residues. Phosphorylation is enhanced by NTN1.
-
Glycosylation at Asn28, Asn78, Asn470, Asn487, Asn512, Asn556, Asn658, Asn666, Asn710, Asn748, Asn795, Asn924, Asn1142, Asn1160, Asn1250, Asn1271, Asn1341, and Asn1488
- NX_O60469 (NX_O60469-1)
- Modification sites at PhosphoSitePlus
Other Protein References for DSCAM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences DSCAM Antibody
-
Custom Antibody ServicesOriGene Antibodies for DSCAM
- Novus Biologicals Antibodies for DSCAM
-
Abcam antibodies for DSCAM
- Invitrogen Antibodies for DSCAM (AFLGC-DSCAM)
- antibodies-online: Show 9 available DSCAM Antibodies ranked by validation data
- Compare Top DSCAM Antibodies
-
Recommended
- 27 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 12 IF (p) Antibodies (anti-rat)
- 9 WB Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 10 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
-
Boster Bio Antibodies for DSCAM
Protein Products
-
OriGene Purified Proteins for DSCAM
- Search Origene for MassSpec and Protein Over-expression Lysates for DSCAM
- Origene Custom Protein Services for DSCAM
- Novus Biologicals proteins for DSCAM
-
Abcam proteins for DSCAM
Assay Products
- RayBiotech Human DSCAM ELISA
- antibodies-online: Show 8 available DSCAM Elisa Kits ranked by validation data
- Compare Top DSCAM Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for DSCAM Gene
Domains & Families for DSCAM Gene
Gene Families for DSCAM Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
Protein Domains for DSCAM Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Fibronectin type III repeat signature
- ProtoNet:
Suggested Antigen Peptide Sequences for DSCAM Gene
- GenScript: Design optimal peptide antigens:
-
- CHD2 (DSCAM_HUMAN)
- Down syndrome cell adhesion molecule splice variant (Q8WY19_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O60469UniProtKB/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).
Function for DSCAM Gene
Molecular function for DSCAM Gene
- 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. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord 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).
- 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
Phenotypes From GWAS Catalog for DSCAM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 19196994 |
| GO:0098632 | cell-cell adhesion mediator activity | IBA | 21873635 |
| GO:1990782 | protein tyrosine kinase binding | IEA | -- |
| GO:1990890 | netrin receptor binding | IPI | 22685302 |
Phenotypes for DSCAM Gene
- MGI mutant phenotypes for DSCAM:
-
inferred from 7 alleles
- nervous system phenotype
- respiratory system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- growth/size/body region phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for DSCAM:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with Ras
- Inconclusive
- Decreased viability after Maraba virus infection
- Increased shRNA abundance (Z-score > 2)
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP)
Animal Model Products
-
Taconic Biosciences Mouse Models for DSCAM
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DSCAM - Select products 50% OFF >
- * DSCAM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DSCAM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DSCAM
-
Santa Cruz Biotechnology (SCBT) CRISPR for DSCAM
miRNA for DSCAM Gene
- miRTarBase miRNAs that target DSCAM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DSCAM
- Browse OriGene Inhibitory RNA Products For DSCAM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCAM
Clone Products
- Applied Biological Materials (abm): Clones for DSCAM - Select products 50% OFF >
- * DSCAM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DSCAM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DSCAM
Cell Line Products
-
Horizon Cell Lines for DSCAM
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 projection, dendrite. Cell projection, growth cone. Cell junction, synapse. Note=Localized in the soma, cell membrane, axon and growth cone of dissociated commissural axons. {ECO:0000250 UniProtKB:Q9ERC8}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| 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 | IEA | -- |
| GO:0016020 | membrane | IEA,TAS | 9426258 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for DSCAM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | Guidance Cues and Growth Cone Motility |
Guidance Cues and Growth Cone Motility
-
|
|
| 3 | PAK Pathway |
PAK Pathway
.56
|
|
| 4 | FOXA1 transcription factor network | ||
Pathways by source for DSCAM Gene
1 BioSystems pathway for DSCAM Gene
2 Reactome pathways for DSCAM Gene
2 Qiagen pathways for DSCAM Gene
- Guidance Cues and Growth Cone Motility
- PAK Pathway
Interacting Proteins for DSCAM Gene
Selected Interacting proteins:
O60469-DSCAM_HUMAN
ENSP00000383303
for DSCAM Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DSCAM
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | IEA,TAS | 9426258 |
| GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IBA,ISS | -- |
| GO:0007162 | negative regulation of cell adhesion | IEA,ISS | -- |
| GO:0007399 | nervous system development | IEA,TAS | 9426258 |
| GO:0007411 | axon guidance | IEA,ISS | -- |
No data available for SIGNOR curated interactions for DSCAM Gene
Transcripts for DSCAM Gene
mRNA/cDNA for DSCAM Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000400454 8571 nts (view in UCSC)
- ENST00000404019 5374 nts (view in UCSC)
- ENST00000617870 6176 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DSCAM - Select products 50% OFF >
- * DSCAM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DSCAM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DSCAM
-
Santa Cruz Biotechnology (SCBT) CRISPR for DSCAM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DSCAM
- Browse OriGene Inhibitory RNA Products For DSCAM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCAM
Clone Products
- Applied Biological Materials (abm): Clones for DSCAM - Select products 50% OFF >
- * DSCAM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DSCAM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DSCAM
| 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
Expression for DSCAM Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Skeletal Muscle (Muscoskeletal System)
- NULL (Uncategorized)
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
- Neural Tube (Nervous System)
- Pancreas (Endocrine System)
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).
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 and MOPED for DSCAM Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSCAM
SOURCE GeneReport for Unigene cluster for DSCAM Gene:
Hs.397800mRNA Expression by UniProt/SwissProt for DSCAM Gene:
O60469-DSCAM_HUMAN
Tissue specificity:
Primarily expressed in brain.
Evidence on tissue expression from TISSUES for DSCAM Gene
- Nervous system(4.7)
- Eye(2.5)
Primer Products
-
OriGene qPCR primer pairs for DSCAM
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DSCAM Gene
Orthologs for DSCAM Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DSCAM 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DSCAM 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | DSCAM 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DSCAM 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dscam 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dscam 30 |
|
||
| Chicken (Gallus gallus) |
Aves | DSCAM 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DSCAM 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dscam 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.28566 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dscamb 31 |
|
ManyToMany | |
| dscama 30 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Dscam4 30 |
|
||
| CG7060 32 |
|
|
|||
| Dscam 32 |
|
|
|||
| CG18630 32 |
|
|
|||
| sdk 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007092 30 |
|
- Species where no ortholog for DSCAM was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for DSCAM: view image
Paralogs for DSCAM Gene
Paralogs for DSCAM Gene
(2) SIMAP similar genes for DSCAM Gene using alignment to 2 proteins:
- DSCAM_HUMAN
- Q8WY19_HUMAN
Variants for DSCAM Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSCAM Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691432 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 40,055,781(-) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 708014 | Benign: not provided | 40,078,736(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 710949 | Benign: not provided | 40,347,872(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 718654 | Benign: not provided | 40,187,156(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 723012 | Likely Benign: not provided | 40,296,110(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
0.187% 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)
Additional Variant Information for DSCAM Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCAM Gene
Disorders for DSCAM Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| down syndrome |
|
|
| enterokinase deficiency |
|
|
| heart disease |
|
|
| fetal akinesia deformation sequence 4 |
|
|
| chromosomal disease |
|
|
Search DSCAM in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DSCAM
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for DSCAM Gene
Publications for DSCAM Gene
- Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion. (PMID: 10925149) Agarwala KL … Yamakawa K (Brain research. Molecular brain research 2000) 3 4 23
- 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 JR (Human molecular genetics 1998) 2 3 4
- Down syndrome cell adhesion molecule (DSCAM) associates with uncoordinated-5C (UNC5C) in netrin-1-mediated growth cone collapse. (PMID: 22685302) Purohit AA … Liu G (The Journal of biological chemistry 2012) 3 4
- Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 41
- Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. (PMID: 21079520) Sato Y … Tamura T (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2011) 3 41
ExternalLinks
Products for DSCAM Gene
- View all 4 R&D Systems DSCAM (DSCAM) Products
- View all R&D Systems DSCAM (DSCAM) Proteins and Enzymes
- View all 2 R&D Systems DSCAM (DSCAM) Primary Antibodies
- View all R&D Systems DSCAM (DSCAM) cDNA Clones
- Learn more about R&D Systems custom DSCAM antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for DSCAM
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- OriGene Purified Proteins for DSCAM
- Search Origene for MassSpec and Protein Over-expression Lysates for DSCAM
- Origene Custom Protein Services for DSCAM
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DSCAM
- Browse OriGene Inhibitory RNA Products For DSCAM
- OriGene qPCR primer pairs for DSCAM
- OriGene CRISPR knockouts for DSCAM
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DSCAM
- Sino Biological Human cDNA Clone for DSCAM
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- Novus Biologicals Antibodies for DSCAM
- Novus Biologicals proteins for DSCAM
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- Taconic Biosciences Mouse Models for DSCAM
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for DSCAM (AFLGC-DSCAM)
- VectorBuilder Custom and pre-made DNA vectors for DSCAM (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for DSCAM (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for DSCAM (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for DSCAM CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for DSCAM
- antibodies-online: Show 9 available DSCAM Antibodies ranked by validation data
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- 27 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 12 IF (p) Antibodies (anti-rat)
- 9 WB Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-mouse)
- 10 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- antibodies-online: Show 8 available DSCAM Elisa Kits ranked by validation data
- Compare Top DSCAM Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available DSCAM Proteins ranked by validation data
- Compare Top DSCAM Proteins
- Horizon Cell Lines for DSCAM
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DSCAM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DSCAM
- Search GeneCopoeia for miRNA 3'UTR Target clone products for DSCAM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSCAM
- Boster Bio Antibodies for DSCAM
- Browse Boster Bio ELISA Kits
Sources for DSCAM Gene
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