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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

Human Disease	Fish	Conditions	Citations
early infantile epileptic encephalopathy	WT + MO1-got2a	standard conditions	van Karnebeek et al., 2019
developmental and epileptic encephalopathy 82	WT + MO1-got2a	standard conditions	van Karnebeek et al., 2019

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
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