Gene
got2b
- ID
- ZDB-GENE-030131-7917
- Name
- glutamic-oxaloacetic transaminase 2b, mitochondrial
- Symbol
- got2b Nomenclature History
- Previous Names
-
- fj40h07
- wu:fj40h07
- zgc:56425
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have L-aspartate:2-oxoglutarate aminotransferase activity. Predicted to be involved in aspartate catabolic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in several structures, including adaxial cell; cardiovascular system; musculature system; nervous system; and pleuroperitoneal region. Orthologous to human GOT2 (glutamic-oxaloacetic transaminase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56425 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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:Q7ZWF5
|
428 |
Interactions and Pathways
No data available
Plasmids
No data available