Gene
nprl2
- ID
- ZDB-GENE-060825-93
- Name
- NPR2 like, GATOR1 complex subunit
- Symbol
- nprl2 Nomenclature History
- Previous Names
-
- im:6900399
- tusc4
- zgc:153630
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to contribute to GTPase activator activity. Predicted to be involved in cellular response to amino acid starvation; negative regulation of TORC1 signaling; and positive regulation of autophagy. Predicted to be part of GATOR1 complex. Predicted to be active in vacuolar membrane. Human ortholog(s) of this gene implicated in focal epilepsy. Orthologous to human NPRL2 (NPR2 like, GATOR1 complex subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6900399 (1 image)
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 |
|---|---|---|---|
| familial focal epilepsy with variable foci 2 | Alliance | Epilepsy, familial focal, with variable foci 2 | 617116 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009348 | Nitrogen permease regulator 2-like |
Domain Details Per Protein
| Protein | Length | Nitrogen permease regulator 2-like |
|---|---|---|
|
UniProtKB:Q0P403
|
379 |
Interactions and Pathways
No data available
Plasmids
No data available