Ap3b2 Gene Summary [Mouse]
Involved in anterograde synaptic vesicle transport and synaptic vesicle endocytosis. Is active in presynapse. Is expressed in adrenal gland; gut; nervous system; sensory organ; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 48. Orthologous to human AP3B2 (adaptor related protein complex 3 subunit beta 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Ap3b2 |
| Official Name | adaptor-related protein complex 3, beta 2 subunit [Source:MGI Symbol;Acc:MGI:1100869] |
| Ensembl ID | ENSMUSG00000062444 |
| Bio databases IDs | |
| Aliases | adaptor-related protein complex 3, beta 2 subunit |
| Synonyms | adaptor-related protein complex 3, beta 2 subunit, adaptor related protein complex 3 subunit beta 2, adaptor related protein complex 3 subunit β 2, adaptor-related protein complex 3, β 2 subunit, Ap3b3b, AP-3 beta-3B subunit, AP-3 β-3B subunit, beta3B, beta-NAP, [b]-NAP, DEE48, EIEE48, NAPTB, β-NAP |
| 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 Ap3b2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- appendage domain
- Clathrin-adaptor complex-3 beta-1 subunit C-terminal
- ear domain
- hinge domain
- Adaptin N terminal region
- HEAT repeats
Pathways
Biological processes and signaling networks where the Ap3b2 gene in mouse 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
- early infantile epileptic encephalopathy type 48
- schizophrenia
- pervasive developmental disorder
- hyperactive behavior
- tonic-clonic seizure
role in cell
- production
- recycling in
- endocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- presynaptic regions
- Plasma Membrane
- vesicles
- trans Golgi network
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ap3b2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- anterograde axon cargo transport
- synaptic vesicle coating
- intracellular transport
- intracellular protein transport
- cargo loading into clathrin-coated vesicle, AP-3-mediated
- anterograde synaptic vesicle transport
Cellular Component
Where in the cell the gene product is active
- early endosome
- Golgi apparatus
- AP-3 adaptor complex
- clathrin coated vesicle membrane