Szt2 Gene Summary [Mouse]
Involved in negative regulation of TORC1 signaling; regulation of superoxide dismutase activity; and response to nutrient levels. Acts upstream of or within central nervous system development; pigmentation; and post-embryonic development. Located in peroxisome. Is expressed in several structures, including central nervous system; heart; lung; metanephros; and spleen. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 18. Orthologous to human SZT2 (SZT2 subunit of KICSTOR complex). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Szt2 |
| Official Name | SZT2 subunit of KICSTOR complex [Source:MGI Symbol;Acc:MGI:3033336] |
| Ensembl ID | ENSMUSG00000033253 |
| Bio databases IDs | |
| Aliases | SZT2 subunit of KICSTOR complex |
| Synonyms | 6430407N22, C1orf84, DEE18, EIEE18, KIAA0467, KICS1, LOC103689960, LOC388625, RGD1308616, SZT2A, SZT2B, SZT2 subunit of KICSTOR complex, TIGR |
| Species | Mouse, Mus musculus |
| 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 mouse Szt2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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
- hypertension
- hereditary disorder
- early infantile epileptic encephalopathy type 18
- epilepsy
- benign rolandic epilepsy
- COVID-19
- developmental epileptic encephalopathy
- estrogen receptor positive HER2 negative PIK3CA mutation positive breast cancer
role in cell
- binding in
- response by
- signaling in
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
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Szt2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- cellular response to amino acid starvation
- pigmentation
- post-embryonic development
- corpus callosum morphogenesis
- cellular response to glucose starvation
Cellular Component
Where in the cell the gene product is active
- peroxisome
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding