Gene
got2a
- ID
- ZDB-GENE-040426-2703
- Name
- glutamic-oxaloacetic transaminase 2a, mitochondrial
- Symbol
- got2a Nomenclature History
- Previous Names
-
- got2 (1)
- zgc:66329
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable L-aspartate:2-oxoglutarate aminotransferase activity. Predicted to be involved in aspartate catabolic process. Predicted to act upstream of or within amino acid metabolic process and biosynthetic process. Predicted to be located in mitochondrial matrix and plasma membrane. Predicted to be active in mitochondrion. Is expressed in intestine. Used to study developmental and epileptic encephalopathy 82 and early infantile epileptic encephalopathy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 82. Orthologous to human GOT2 (glutamic-oxaloacetic transaminase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from van Karnebeek et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 82 | Alliance | Developmental and epileptic encephalopathy 82 | 618721 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR004838 | Aminotransferases, class-I, pyridoxal-phosphate-binding site |
| Domain | IPR004839 | Aminotransferase, class I/classII, large domain |
| Family | IPR000796 | Aspartate/other aminotransferase |
| Homologous_superfamily | IPR015421 | Pyridoxal phosphate-dependent transferase, major domain |
| Homologous_superfamily | IPR015422 | Pyridoxal phosphate-dependent transferase, small domain |
| Homologous_superfamily | IPR015424 | Pyridoxal phosphate-dependent transferase |
Domain Details Per Protein
| Protein | Length | Aminotransferase, class I/classII, large domain | Aminotransferases, class-I, pyridoxal-phosphate-binding site | Aspartate/other aminotransferase | Pyridoxal phosphate-dependent transferase | Pyridoxal phosphate-dependent transferase, major domain | Pyridoxal phosphate-dependent transferase, small domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7SYK7
|
428 |
Interactions and Pathways
No data available
Plasmids
No data available