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 developmental and 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 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR033228 | Protein SZT2 |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Protein SZT2 |
|---|---|---|---|
| UniProtKB:A0AB32TW25 | InterPro | 3227 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- Ha, T.T., Burgess, R., Newman, M., Moey, C., Mandelstam, S.A., Gardner, A.E., Ivancevic, A.M., Pham, D., Kumar, R., Smith, N., Patel, C., Malone, S., Ryan, M.M., Calvert, S., van Eyk, C.L., Lardelli, M., Berkovic, S.F., Leventer, R.J., Richards, L.J., Scheffer, I.E., Gecz, J., Corbett, M.A. (2023) Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes. 14(8):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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