GPT2 (glutamic--pyruvic transaminase 2)

2021-06-01  

Identity

HGNC
LOCATION
16q11.2
LOCUSID
ALIAS
ALT2,GPT

Other Information

Locus ID:

NCBI: 84706
MIM: 138210
HGNC: 18062
Ensembl: ENSG00000166123

Variants:

dbSNP: 84706
ClinVar: 84706
TCGA: ENSG00000166123
COSMIC: GPT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166123ENST00000340124Q8TD30
ENSG00000166123ENST00000340124A0A024R6R2
ENSG00000166123ENST00000440783Q8TD30
ENSG00000166123ENST00000562132H3BU54

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
118633752002cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase.24
175968832007A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193603212009Detection of the mitochondrial and catalytically active alanine aminotransferase in human tissues and plasma.13
276016542016Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.12
288394612017Glutamic Pyruvate Transaminase GPT2 Promotes Tumorigenesis of Breast Cancer Cells by Activating Sonic Hedgehog Signaling.12
257589352015Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.8
171095022006Alterations of biliary biochemical constituents and cytokines in infantile hepatitis syndrome.7
244186032014Activating transcription factor 4 mediates up-regulation of alanine aminotransferase 2 gene expression under metabolic stress.5
307658622019Mitochondrial GPT2 plays a pivotal role in metabolic adaptation to the perturbation of mitochondrial glutamine metabolism.3

Citation

Dessen P

GPT2 (glutamic--pyruvic transaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58388/gpt2