DSCAML1: Down Syndrome Cell Adhesion Molecule Like 1
A neuronal immunoglobulin superfamily member implicated in neurodevelopmental disorders and cancer
Gene Information Card
| Symbol | DSCAML1 |
|---|---|
| Full Name | Down Syndrome Cell Adhesion Molecule Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 57453 ncbi.nlm.nih.gov/gene/57453 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | Q8NDA2 |
| OMIM ID | 611782 |
| HGNC ID | 14656 |
| Aliases | CHL2, IgSF9, DSCAM2, KIAA1132 |
Description
DSCAML1 encodes a member of the immunoglobulin superfamily of cell adhesion molecules. The protein is predominantly expressed in the nervous system and plays a role in neuronal development, axon guidance, and synaptic organization. Mutations in DSCAML1 have been associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disability. Altered expression has also been reported in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Missense and loss-of-function variants disrupt neuronal adhesion and synaptic function | ClinVar, PMID: 25363760 |
| Intellectual disability | De novo and inherited mutations impair neurodevelopmental signaling | ClinVar, PMID: 28416586 |
| Colorectal cancer | Downregulation of DSCAML1 may promote tumor progression | COSMIC, PMID: 23563182 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Spinal cord | 6.3 | Medium |
| Testis | 2.1 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial tumor line |
| HEK293 (embryonic kidney) | 1.3 | Low endogenous expression |
| HCT116 (colorectal carcinoma) | 0.8 | Reduced expression in cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | Rare | Loss of adhesion function |
| c.3010G>A (p.Gly1004Arg) | Missense | Rare | Impaired protein stability |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | Very rare | Loss of function |
| c.4567C>T (p.Arg1523*) | Nonsense | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent protein, reducing cell adhesion capacity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type DSCAML1 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • axon guidance | • synapse assembly |
| • neuron projection development | • plasma membrane |
| • integral component of membrane | • protein binding |
Pathways
• Cell adhesion molecules (CAMs)
• Axon guidance
• Neuroactive ligand-receptor interaction
Protein Summary
DSCAML1 is a single-pass type I membrane protein containing nine immunoglobulin-like C2-type domains and four fibronectin type III domains. It mediates homophilic cell adhesion and is involved in neuronal migration, dendrite arborization, and synapse formation. The protein is highly conserved across vertebrates and is essential for proper central nervous system development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSCAML1 Knockout HEK293 Cell Line | EDJ-KQ13217 | Human | 57453 | Details Get a Quote |
| DSCAML1 Knockout HeLa Cell Line | EDJ-KQ56839 | Human | 57453 | Details Get a Quote |
| DSCAML1 Knockout A-549 Cell Line | EDJ-KQ65350 | Human | 57453 | Details Get a Quote |
| DSCAML1 Knockout HCT 116 Cell Line | EDJ-KQ73790 | Human | 57453 | Details Get a Quote |
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