DSCAM: Down Syndrome Cell Adhesion Molecule
A key neuronal adhesion molecule implicated in Down syndrome, neurodevelopmental disorders, and cancer.
Gene Information Card
| Symbol | DSCAM |
|---|---|
| Full Name | Down Syndrome Cell Adhesion Molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.2 |
| NCBI Gene ID | 1826 ncbi.nlm.nih.gov/gene/1826 |
| Ensembl ID | ENSG00000171587 |
| UniProt ID | O60469 |
| OMIM ID | 602523 |
| HGNC ID | 3039 |
| Aliases | CHD2-42, DSCAM1, Down syndrome cell adhesion molecule |
Description
DSCAM (Down Syndrome Cell Adhesion Molecule) encodes a member of the immunoglobulin superfamily of cell adhesion molecules. It is predominantly expressed in the nervous system and plays critical roles in neuronal development, including axon guidance, dendrite self-avoidance, and synaptic formation. The gene is located on chromosome 21, within the Down syndrome critical region, and its overexpression is implicated in the neurological phenotypes of Down syndrome. DSCAM is also associated with various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Down Syndrome | Overexpression due to trisomy 21 leads to altered neuronal connectivity and cognitive impairment. | OMIM #190685; multiple studies show DSCAM triplication contributes to intellectual disability. |
| Autism Spectrum Disorder | Rare DSCAM variants may disrupt synaptic adhesion and neuronal network formation. | ClinVar; case-control studies (PMID: 25217958). |
| Colorectal Cancer | DSCAM promoter hypermethylation and reduced expression correlate with tumor progression. | COSMIC; PMID: 21947006. |
| Breast Cancer | DSCAM downregulation associated with metastasis and poor prognosis. | COSMIC; PMID: 23382219. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal Cord | 8.3 | Medium |
| Testis | 4.1 | Low |
| Lung | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Medium expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Alters Ig domain structure; associated with autism. |
| c.2567_2568del (p.Val856Alafs*12) | Frameshift | Rare | Loss of function; reported in neurodevelopmental delay. |
| c.3456G>A (p.Trp1152*) | Nonsense | Rare | Premature truncation; likely pathogenic. |
| Promoter hypermethylation | Epigenetic | Frequent in colorectal cancer | Reduced DSCAM expression; tumor suppressor role. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent DSCAM protein, impairing cell adhesion and neuronal wiring.
Gain of Function (GOF)
Not well documented; overexpression in Down syndrome is considered a dosage effect rather than gain-of-function mutation.
Dominant Negative (DN)
Missense mutations in Ig domains may interfere with dimerization or ligand binding, exerting dominant-negative effects on adhesion complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Axon guidance – KEGG hsa04360
• Down syndrome pathway – Reactome R-HSA-5673001
Protein Summary
DSCAM is a transmembrane glycoprotein of the immunoglobulin superfamily, containing 10 Ig-like domains and 6 fibronectin type III repeats. It mediates homophilic and heterophilic cell adhesion, essential for neuronal self-avoidance and dendritic arborization. The protein is highly conserved and interacts with Dscam-like (DSCAML1) and other adhesion molecules. Its overexpression in trisomy 21 contributes to synaptic dysfunction, while loss-of-function mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSCAM Knockout HEK293 Cell Line | EDJ-KQ4479 | Human | 1826 | Details Get a Quote |
| DSCAML1 Knockout HEK293 Cell Line | EDJ-KQ13217 | Human | 57453 | Details Get a Quote |
| DSCAM Knockout HeLa Cell Line | EDJ-KQ53120 | Human | 1826 | Details Get a Quote |
| DSCAML1 Knockout HeLa Cell Line | EDJ-KQ56839 | Human | 57453 | Details Get a Quote |
| DSCAM Knockout A-549 Cell Line | EDJ-KQ61593 | Human | 1826 | Details Get a Quote |
| DSCAML1 Knockout A-549 Cell Line | EDJ-KQ65350 | Human | 57453 | Details Get a Quote |
| DSCAM Knockout HCT 116 Cell Line | EDJ-KQ70083 | Human | 1826 | Details Get a Quote |
| DSCAML1 Knockout HCT 116 Cell Line | EDJ-KQ73790 | Human | 57453 | Details Get a Quote |
