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 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. Orthologous to human GOT2 (glutamic-oxaloacetic transaminase 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from van Karnebeek et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With got2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 82 Alliance Developmental and epileptic encephalopathy 82 618721
Associated With got2a Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA got2a-201 (1) Ensembl 2,573 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations