Gene
prrt2
- ID
- ZDB-GENE-121210-3
- Name
- proline-rich transmembrane protein 2
- Symbol
- prrt2 Nomenclature History
- Previous Names
-
- si:ch211-149k17.5
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to localize to membrane. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Blaker-Lee et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| benign familial infantile seizures 2 | Alliance | Seizures, benign familial infantile, 2 | 605751 |
| episodic kinesigenic dyskinesia 1 | Alliance | Episodic kinesigenic dyskinesia 1 | 128200 |
| Convulsions, familial infantile, with paroxysmal choreoathetosis | 602066 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007593 | CD225/Dispanin family |
Domain Details Per Protein
| Protein | Length | CD225/Dispanin family |
|---|---|---|
|
UniProtKB:E7F7R0
|
226 |
Interactions and Pathways
No data available
Plasmids
No data available