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 be active in membrane. 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).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa22019 | Allele with one point mutation | Unknown | Splice Site | ENU |
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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
Domain Details Per Protein
| Protein | Additional Resources | Length | CD225/Dispanin domain-containing protein | CD225/Dispanin family |
|---|---|---|---|---|
| UniProtKB:E7F7R0 | InterPro | 226 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-149K17 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002663904 (1) | 5283 nt | ||
| Genomic | GenBank:AL929469 (1) | 146415 nt | ||
| Polypeptide | UniProtKB:E7F7R0 (1) | 226 aa |
- McCammon, J.M., Blaker-Lee, A., Chen, X., Sive, H. (2017) The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. Human molecular genetics. 26:3699-3712
- Blaker-Lee, A., Gupta, S., McCammon, J.M., De Rienzo, G., and Sive, H. (2012) Zebrafish homologs of 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Disease models & mechanisms. 5(6):834-851
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