Shank3 Gene Summary [Mouse]
Enables ionotropic glutamate receptor binding activity and scaffold protein binding activity. A structural constituent of postsynaptic density. Involved in several processes, including learning or memory; modulation of chemical synaptic transmission; and postsynapse organization. Acts upstream of or within several processes, including MAPK cascade; negative regulation of actin filament bundle assembly; and regulation of AMPA glutamate receptor clustering. Located in neuron spine and plasma membrane. Is active in glutamatergic synapse. Is expressed in central nervous system. Used to study Phelan-McDermid syndrome; autism spectrum disorder; and schizophrenia. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Shank3 |
| Official Name | SH3 and multiple ankyrin repeat domains 3 [Source:MGI Symbol;Acc:MGI:1930016] |
| Ensembl ID | ENSMUSG00000022623 |
| Bio databases IDs | |
| Aliases | SH3 and multiple ankyrin repeat domains 3 |
| Synonyms | DEL22q13.3, LOC284940, PROSAP2, PSAP2, SCZD15, SH3 and multiple ankyrin repeat domains 3, SPANK-2 |
| 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 Shank3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- Ankyrin repeats (many copies)
- SAM domain
- SAM (Sterile alpha motif )
- G-protein-coupled receptor binding
- canonical PDZ domain
- Ankyrin repeats (3 copies)
- GKAP/Homer scaffold
- protein binding
- SPN domain
- ionotropic glutamate receptor binding
- identical protein binding
- proline rich domain
- SH3-domain binding
- Ankyrin repeat
- Src Homology 3 domain superfamily
- Sterile alpha motif
- binding protein
- zinc ion binding
- Ubl1_cv_Nsp3_N-like
- SAM domain (Sterile alpha motif)
- structural molecule
- N-terminal or F0 domain of Talin-head FERM
- ankyrin repeats
Pathways
Biological processes and signaling networks where the Shank3 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
- schizophrenia
- memory deficits
- mental retardation
- hereditary disorder
- chromosome 22q13.3 deletion syndrome
- autism-like behavioral deficit
- neurodevelopmental disorder
- pervasive developmental disorder
- hypersensitive reaction
- SHANK3-related disorder
role in cell
- expression in
- proliferation
- quantity
- differentiation
- response
- formation
- abnormal morphology
- synaptic transmission
- function
- trans-signaling
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
- membrane fraction
- glutaminergic synapse
- organelle
- Cytoplasm
- cilia
- cytosol
- basolateral cell surfaces
- dendritic spines
- neurites
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Shank3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of long-term synaptic potentiation
- positive regulation of long-term synaptic potentiation
- regulation of long term synaptic depression
- positive regulation of glutamate receptor signaling pathway
- vocal learning
- brain morphogenesis
- learning
- memory
- striatal medium spiny neuron differentiation
- MAPK cascade
- negative regulation of cell volume
- postsynaptic density assembly
- positive regulation of synaptic transmission, glutamatergic
- social behavior
- regulation of dendritic spine morphogenesis
- positive regulation of dendritic spine development
- dendritic spine morphogenesis
- synapse assembly
- alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering
- N-methyl-D-aspartate receptor clustering
- guanylate kinase-associated protein clustering
- positive regulation of synapse structural plasticity
- negative regulation of actin filament bundle assembly
- positive regulation of excitatory postsynaptic membrane potential
- adult behavior
- neuromuscular process controlling balance
- vocalization behavior
- positive regulation of long-term neuronal synaptic plasticity
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- neuron spine
- postsynaptic membrane
- dendritic spine
- cytosol
- cilium membrane
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- ionotropic glutamate receptor binding
- zinc ion binding
- protein binding
- actin binding
- GKAP/Homer scaffold activity
- SH3 domain binding