Gene
bcat2
- ID
- ZDB-GENE-040718-425
- Name
- branched chain amino-acid transaminase 2, mitochondrial
- Symbol
- bcat2 Nomenclature History
- Previous Names
-
- fb37h12
- wu:fb37h12
- zgc:91919
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable branched-chain-amino-acid transaminase activity. Predicted to be involved in L-leucine biosynthetic process and L-valine biosynthetic process. Predicted to act upstream of or within amino acid biosynthetic process; branched-chain amino acid biosynthetic process; and lipid metabolic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in liver and muscle. Human ortholog(s) of this gene implicated in hypervalinemia and hyperleucine-isoleucinemia. Orthologous to human BCAT2 (branched chain amino acid transaminase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| hypervalinemia and hyperleucine-isoleucinemia | Alliance | Hypervalinemia and hyperleucine-isoleucinemia | 618850 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018300 | Aminotransferase, class IV, conserved site |
| Family | IPR001544 | Aminotransferase class IV |
| Family | IPR005786 | Branched-chain amino acid aminotransferase II |
| Family | IPR033939 | Branched-chain aminotransferase |
| Homologous_superfamily | IPR036038 | Aminotransferase-like, PLP-dependent enzymes |
| Homologous_superfamily | IPR043131 | Branched-chain-amino-acid aminotransferase-like, N-terminal |
| Homologous_superfamily | IPR043132 | Branched-chain-amino-acid aminotransferase-like, C-terminal |
Domain Details Per Protein
| Protein | Additional Resources | Length | Aminotransferase class IV | Aminotransferase, class IV, conserved site | Aminotransferase-like, PLP-dependent enzymes | Branched-chain amino acid aminotransferase II | Branched-chain-amino-acid aminotransferase-like, C-terminal | Branched-chain-amino-acid aminotransferase-like, N-terminal | Branched-chain aminotransferase |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E9QCQ6 | InterPro | 406 | |||||||
| UniProtKB:E9QFU8 | InterPro | 391 |
Interactions and Pathways
No data available
Plasmids
No data available