PRRT2 Gene Summary [Human]
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Details
| Type | Processed Transcript |
| Official Symbol | PRRT2 |
| Official Name | proline rich transmembrane protein 2 [Source:HGNC Symbol;Acc:HGNC:30500] |
| Ensembl ID | ENSG00000167371 |
| Bio databases IDs | |
| Aliases | proline rich transmembrane protein 2, interferon induced transmembrane protein domain containing 1, dispanin subfamily B member 3 |
| Synonyms | 1500031I19Rik, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline-rich transmembrane protein 2, RGD1564195 |
| 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 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 human 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