DSCAM Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DSCAM |
| Official Name | DS cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:3039] |
| Ensembl ID | ENSG00000171587 |
| Bio databases IDs | |
| Aliases | DS cell adhesion molecule |
| Synonyms | 4932410A21Rik, CHD2, CHD2-42, CHD2-52, DSCAM1, DS cell adhesion molecule, LOC100360483, LOC686040 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DSCAM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- Ig-like domain on T-cell surface glycoprotein CD3 epsilon chain
- immunoglobulin domain
- Purple acid Phosphatase, N-terminal domain
- Immunoglobulin I-set domain
- protein binding
- receptor binding
- Fibronectin type 3 domain
- FN3
- Immunoglobulin like
- intracellular domain
- PDZ binding motif
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the DSCAM gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- non-small cell lung cancer
- Hirschsprung disease
- Alzheimer disease
- survival
- hereditary disorder
- schizophrenia
- hypertension
- progression free survival
- narcolepsy
role in cell
- expression in
- activation in
- density
- number
- quantity
- development
- morphogenesis
- morphology
- abnormal morphology
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Extracellular Space
- cellular membrane
- growth cone
- synaptosomes
- synapse
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DSCAM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of phosphorylation
- negative regulation of cell adhesion
- nervous system development
- axon guidance
- camera-type eye photoreceptor cell differentiation
- cell adhesion
- homophilic cell adhesion
- positive regulation of axon extension involved in axon guidance
- dendrite morphogenesis
- synapse assembly
- central nervous system development
- locomotory behavior
- dendrite self-avoidance
- retina layer formation
- post-embryonic retina morphogenesis in camera-type eye
- netrin-activated signaling pathway
Cellular Component
Where in the cell the gene product is active
- growth cone
- dendrite
- membrane
- neuronal cell body
- synapse
- extracellular region
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding