SZT2 Gene Summary [Human]
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]
Details
| Type | Protein Coding |
| Official Symbol | SZT2 |
| Official Name | SZT2 subunit of KICSTOR complex [Source:HGNC Symbol;Acc:HGNC:29040] |
| Ensembl ID | ENSG00000198198 |
| Bio databases IDs | |
| Aliases | SZT2 subunit of KICSTOR complex, seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse) |
| Synonyms | 6430407N22, C1orf84, DEE18, EIEE18, KIAA0467, KICS1, LOC103689960, LOC388625, RGD1308616, SZT2A, SZT2B, SZT2 subunit of KICSTOR complex, TIGR |
| 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 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 human 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