Gene

gpt2

ID

ZDB-GENE-030729-8

Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Symbol

gpt2 Nomenclature History

Previous Names

im:7150662
sb:cb580
zgc:165657

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Predicted to have L-alanine:2-oxoglutarate aminotransferase activity. Predicted to be involved in biosynthetic process. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Is expressed in several structures, including axial chorda mesoderm; axis; immature eye; musculature system; and nervous system. Orthologous to human GPT2 (glutamic--pyruvic transaminase 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb580 (12 images)
IMAGE:7150662 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gpt2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
neurodevelopmental disorder with spastic paraplegia and microcephaly	Alliance	Neurodevelopmental disorder with microcephaly and spastic paraplegia	616281

Associated With gpt2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004839	Aminotransferase, class I/classII, large domain
Family	IPR045088	Aminotransferase ALAT1/2-like
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