Gene
szt2
- ID
- ZDB-GENE-130530-830
- Name
- SZT2 subunit of KICSTOR complex
- Symbol
- szt2 Nomenclature History
- Previous Names
-
- zmp:0000000827 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 18. Orthologous to human SZT2 (SZT2 subunit of KICSTOR complex).
- Genome Resources
-
- Alliance (1)
- Gene:571986 (1)
- Note
-
Could potentially be represented by Ensembl genes ENSDARG00000100203, ENSDARG00000117673 and ENSDARG00000117550. Maps to Gene ID: 571986.
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Ha et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 18 | Alliance | Developmental and epileptic encephalopathy 18 | 615476 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance