NPRL2 Gene Summary [Human]
Enables protein kinase activity. Contributes to GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TOR signaling; and negative regulation of kinase activity. Located in lysosomal membrane. Part of GATOR1 complex. Implicated in focal epilepsy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | NPRL2 |
| Official Name | NPR2 like, GATOR1 complex subunit [Source:HGNC Symbol;Acc:HGNC:24969] |
| Ensembl ID | ENSG00000114388 |
| Bio databases IDs | |
| Aliases | NPR2 like, GATOR1 complex subunit |
| Synonyms | 2810446G01Rik, FFEVF2, G21, NPR2, NPR2L, NPR2-like, GATOR1 complex subunit, TUSC4 |
| 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 NPRL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Nitrogen Permease regulator of amino acid transport activity 3
- GTPase activator
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- hereditary disorder
- familial focal epilepsy with variable foci type 2
- anophthalmia
- estrogen receptor positive HER2 negative PIK3CA mutation positive breast cancer
- localization-related epilepsy
- familial focal epilepsy with variable foci
- microphthalmia
role in cell
- phosphorylation in
- capivasertib resistance
- number
- response by
- signaling in
- taselisib resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPRL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of autophagy
- cellular response to amino acid starvation
- negative regulation of kinase activity
Cellular Component
Where in the cell the gene product is active
- vacuolar membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity