SZT2
SZT2 Subunit of KICSTOR Complex
Gene Information Card
| Symbol | SZT2 |
|---|---|
| Full Name | SZT2 subunit of KICSTOR complex |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 23334 ncbi.nlm.nih.gov/gene/23334 |
| Ensembl ID | ENSG00000116898 |
| UniProt ID | Q5VYS8 |
| OMIM ID | 615463 |
| HGNC ID | 29041 |
| Aliases | KIAA0393, SZT2, seizure threshold 2 homolog |
Description
The SZT2 gene encodes a component of the KICSTOR complex, which negatively regulates the mTORC1 signaling pathway in response to amino acid deprivation. Loss-of-function mutations in SZT2 are associated with early-onset epileptic encephalopathy, intellectual disability, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 54 | Loss-of-function mutations impair KICSTOR complex assembly, leading to constitutive mTORC1 activation and neuronal hyperexcitability. | ClinVar, OMIM |
| Intellectual disability, autosomal recessive 69 | Biallelic SZT2 mutations disrupt mTOR signaling, affecting synaptic plasticity and cognitive development. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 4.5 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.8 | Neuronal cell line |
| HEK293 | 5.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3178C>T (p.Arg1060*) | Nonsense | Rare | Loss of function, premature truncation |
| c.4567_4568del (p.Leu1523Valfs*2) | Frameshift | Rare | Loss of function, protein truncation |
Mutation functional classification
Loss of Function (LOF)
Most SZT2 mutations are loss-of-function, leading to mTORC1 hyperactivation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of TORC1 signaling | • regulation of cellular response to amino acid starvation |
| • KICSTOR complex |
Pathways
• mTOR signaling pathway
• Amino acid sensing via KICSTOR complex
Protein Summary
SZT2 is a 1549-amino acid protein that localizes to the lysosomal membrane as part of the KICSTOR complex. It is essential for amino acid-dependent inhibition of mTORC1, and its loss leads to dysregulated cell growth and neurological phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SZT2 Knockout HEK293 Cell Line | EDJ-KQ7972 | Human | 23334 | Details Get a Quote |
| SZT2 Knockout A-549 Cell Line | EDJ-KQ33671 | Human | 23334 | Details Get a Quote |
| SZT2 Knockout HCT 116 Cell Line | EDJ-KQ33672 | Human | 23334 | Details Get a Quote |
| SZT2 Knockout HeLa Cell Line | EDJ-KQ33673 | Human | 23334 | Details Get a Quote |
