Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
C1orf84,DEE18,EIEE18,KIAA0467,KICS1,SZT2A,SZT2B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23334
MIM: 615463
HGNC: 29040
Ensembl: ENSG00000198198
Variants:
dbSNP: 23334
ClinVar: 23334
TCGA: ENSG00000198198
COSMIC: SZT2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38134649 | 2024 | Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. | 0 |
| 38134649 | 2024 | Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. | 0 |
| 35352205 | 2022 | Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review. | 1 |
| 36361881 | 2022 | Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene. | 0 |
| 35352205 | 2022 | Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review. | 1 |
| 36361881 | 2022 | Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene. | 0 |
| 33681650 | 2021 | A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. | 3 |
| 34685691 | 2021 | The SZT2 Interactome Unravels New Functions of the KICSTOR Complex. | 6 |
| 33681650 | 2021 | A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. | 3 |
| 34685691 | 2021 | The SZT2 Interactome Unravels New Functions of the KICSTOR Complex. | 6 |
| 32402703 | 2020 | Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. | 8 |
| 32402703 | 2020 | Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. | 8 |
| 31397114 | 2019 | Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies. | 7 |
| 31430354 | 2019 | Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease. | 6 |
| 31397114 | 2019 | Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies. | 7 |
Citation
Dessen P
SZT2 (SZT2 subunit of KICSTOR complex)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74446
