AGXT2 (alanine--glyoxylate aminotransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
AGT2,BAIBA,DAIBAT
FUSION GENES

Other Information

Locus ID:

NCBI: 64902
MIM: 612471
HGNC: 14412
Ensembl: ENSG00000113492

Variants:

dbSNP: 64902
ClinVar: 64902
TCGA: ENSG00000113492
COSMIC: AGXT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113492ENST00000231420Q9BYV1
ENSG00000113492ENST00000510428Q9BYV1
ENSG00000113492ENST00000618015Q9BYV1

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Valine, leucine and isoleucine degradationKEGGko00280
Glycine, serine and threonine metabolismKEGGhsa00260
Valine, leucine and isoleucine degradationKEGGhsa00280
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine catabolismREACTOMER-HSA-73621
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382610332024Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan.0
382610332024Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan.0
371204362023Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.1
371204362023Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.1
359618232022Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan.1
359618232022Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan.1
338790462021Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.6
338920102021Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.12
338790462021Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.6
338920102021Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.12
329488972020The role of alanine glyoxylate transaminase-2 (agxt2) in β-alanine and carnosine metabolism of healthy mice and humans.3
329488972020The role of alanine glyoxylate transaminase-2 (agxt2) in β-alanine and carnosine metabolism of healthy mice and humans.3
310621692019Genetic regulation of dimethylarginines and endothelial dysfunction in rheumatoid arthritis.5
310621692019Genetic regulation of dimethylarginines and endothelial dysfunction in rheumatoid arthritis.5
302841432018AGXT2 and DDAH-1 genetic variants are highly correlated with serum ADMA and SDMA levels and with incidence of coronary artery disease in Egyptians.8

Citation

Dessen P

AGXT2 (alanine--glyoxylate aminotransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60212/