GPT2

This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Description

Glutamic--pyruvic transaminase 2

Tissue specificity

Tissue enhanced (pancreas, skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (46884362 - 46931289)

Ensembl ID

ENSG00000166123  (ver. 103.38)

Orthologs

Mouse Gpt2: ENSMUSG00000031700

UniProt

Q8TD30

neXtProt

NX_Q8TD30

Human splice variants
Mouse splice variants

Protein structure