Spg21 Gene Summary [Mouse]
Predicted to enable CD4 receptor binding activity. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; neuron development; and response to epidermal growth factor. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and trans-Golgi network transport vesicle. Is expressed in extraembryonic component; head mesenchyme; tongue; and vertebral axis musculature. Used to study Mast syndrome. Human ortholog(s) of this gene implicated in Mast syndrome and hereditary spastic paraplegia. Orthologous to human SPG21 (SPG21 abhydrolase domain containing, maspardin). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Spg21 |
| Official Name | SPG21, maspardin [Source:MGI Symbol;Acc:MGI:106403] |
| Ensembl ID | ENSMUSG00000032388 |
| Bio databases IDs | |
| Aliases | SPG21, maspardin |
| Synonyms | ABHD21, ACP33, BM-019, D9Wsu18e, GL010, LOC100364022, LOC102557556, MAST, SPG21 abhydrolase domain containing, maspardin, SPG21, maspardin |
| Species | Mouse, Mus musculus |
| 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 mouse Spg21 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha/beta hydrolase fold domain
- Alpha/beta hydrolase family
- enzyme
- protein binding
- CD4 receptor binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- major depression
- gastric adenocarcinoma
- hereditary spastic paraplegia
- Alzheimer disease
- Mast syndrome
- gastric epithelial cancer
- colorectal cancer
regulated by
- bisphenol A
- 2,4,5,2',4',5'-hexachlorobiphenyl
- 144DG11
- monobutyl phthalate
role in cell
- maturation
- differentiation
- growth
- abnormal morphology
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
- soluble fraction
- intracellular membrane-bounded organelle
- Golgi Apparatus
- cytosol
- lysosomal compartment
- early endosomes
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Spg21 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- antigen receptor-mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- trans-Golgi network transport vesicle
- cytosol
- Golgi apparatus
- endosome membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- CD4 receptor binding