Prrt2 Gene Summary [Mouse]
Enables syntaxin-1 binding activity. Involved in negative regulation of short-term synaptic potentiation; regulation of vesicle fusion; and synaptic vesicle fusion to presynaptic active zone membrane. Located in axon terminus; plasma membrane; and synaptic vesicle. Is active in glutamatergic synapse and presynaptic membrane. Is expressed in brain and spinal cord. Used to study episodic kinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in benign familial infantile seizures 2 and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Prrt2 |
| Official Name | proline-rich transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1916267] |
| Ensembl ID | ENSMUSG00000045114 |
| Bio databases IDs | |
| Aliases | proline-rich transmembrane protein 2 |
| Synonyms | 1500031I19Rik, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline-rich transmembrane protein 2, RGD1564195 |
| 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 Prrt2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Interferon-induced transmembrane protein
- syntaxin-1 binding
- protein binding
- SH3-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- paroxysmal kinesigenic choreoathetosis
- familial infantile convulsions with paroxysmal choreoathetosis
- episodic kinesigenic dyskinesia type 1
- benign familial infantile seizures 2
- PRRT2-related disorder
- hereditary disorder
- preeclampsia
- dystonia
- paroxysmal non-kinesigenic dyskinesia
regulates
role in cell
- 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
- glutaminergic synapse
- presynaptic regions
- cellular membrane
- vesicles
- presynaptic membrane
- synaptic vesicles
- neurites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Prrt2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular process controlling posture
- synaptic vesicle fusion to presynaptic membrane
- negative regulation of SNARE complex assembly
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- synaptic vesicle
- dendritic spine
- membrane
- vesicle
- synaptic vesicle membrane
- plasma membrane
- axon terminus
Molecular Function
What the gene product does at the molecular level
- protein binding
- syntaxin-1 binding