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AGXT2 alanine--glyoxylate aminotransferase 2 [ Homo sapiens (human) ]

Gene ID: 64902, updated on 3-Apr-2024

Summary

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Official Symbol
AGXT2provided by HGNC
Official Full Name
alanine--glyoxylate aminotransferase 2provided by HGNC
Primary source
HGNC:HGNC:14412
See related
Ensembl:ENSG00000113492 MIM:612471; AllianceGenome:HGNC:14412
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGT2; BAIBA; DAIBAT
Summary
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression
Biased expression in kidney (RPKM 69.3) and liver (RPKM 24.9) See more
Orthologs
mouse all
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Genomic context

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See AGXT2 in Genome Data Viewer
Location:
5p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34998102..35047949, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35245145..35294998, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34998207..35048054, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974 Neighboring gene DnaJ heat shock protein family (Hsp40) member C21 Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22470 Neighboring gene NANOG hESC enhancer GRCh37_chr5:35089574-35090075 Neighboring gene prolactin receptor Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:35117544-35118743 Neighboring gene Sharpr-MPRA regulatory region 5567 Neighboring gene MPRA-validated peak5224 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:35332547-35333118 Neighboring gene Sharpr-MPRA regulatory region 11164 Neighboring gene small nucleolar RNA U3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment. Granot-Hershkovitz E, et al. Transl Psychiatry, 2023 Apr 29. PMID 37120436, Free PMC Article
  2. Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan. Kumon H, et al. Can J Diabetes, 2022 Dec. PMID 35961823
  3. Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease. Yoo T, et al. J Hepatol, 2021 Sep. PMID 33892010
  4. Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method. Yoshino Y, et al. BMC Genomics, 2021 Apr 20. PMID 33879046, Free PMC Article
  5. The role of alanine glyoxylate transaminase-2 (agxt2) in β-alanine and carnosine metabolism of healthy mice and humans. Stautemas J, et al. Eur J Appl Physiol, 2020 Dec. PMID 32948897

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan.
    Title: Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan.
  2. Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.
    Title: Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.
  3. Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan.
    Title: Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan.
  4. Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
    Title: Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
  5. The role of alanine glyoxylate transaminase-2 (agxt2) in beta-alanine and carnosine metabolism of healthy mice and humans.
    Title: The role of alanine glyoxylate transaminase-2 (agxt2) in β-alanine and carnosine metabolism of healthy mice and humans.
  6. Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.
    Title: Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.
  7. Alanine-Glyoxylate Aminotransferase 2 (AGTX2)-dependent pathway is a relatively recently discovered alternative pathway of dimethylarginine catabolism and its role on Rheumatoid Arthritis -related atherosclerotic disease is yet to be established. Gene variants of AGTX-2 may influence dimethylarginine levels in Rheumatoid Arthritis patients and provide the rationale for larger studies in this field.
    Title: Genetic regulation of dimethylarginines and endothelial dysfunction in rheumatoid arthritis.
  8. Carriers of AGXT2 rs37369-T allele (CT + TT genotypes) and AGXT2 rs16899974-A allele (CA + AA genotypes) had 2.4- and 2.08-fold higher risk of having coronary artery disease than CC genotype in both SNPs (p = 0.0050 and 0.0192, respectively). AGXT2 rs37369 TT and AGXT2 rs16899974 AA genotypes were associated with the highest serum ADMA and SDMA
    Title: AGXT2 and DDAH-1 genetic variants are highly correlated with serum ADMA and SDMA levels and with incidence of coronary artery disease in Egyptians.
  9. We purified human AGXT2 from tissues of AGXT2 transgenic mice and demonstrated its ability to metabolize homoarginine to 6-guanidino-2-oxocaproic acid (GOCA). After incubation of HepG2 cells overexpressing AGXT2 with isotope-labeled homoarginine-d4 we were able to detect labeled GOCA in the medium
    Title: A Novel Pathway for Metabolism of the Cardiovascular Risk Factor Homoarginine by alanine:glyoxylate aminotransferase 2.
  10. study in a well-characterized rheumatoid arthritis population did not show an association between serum concentrations of dimethylarginines and genetic variants of the AGXT2 gene.
    Title: Genetic variations in the alanine-glyoxylate aminotransferase 2 (AGXT2) gene and dimethylarginines levels in rheumatoid arthritis.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Beta-aminoisobutyric acid, urinary excretion of
MedGen: C1859518 OMIM: 210100 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine.
EBI GWAS Catalog
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.
EBI GWAS Catalog
Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
EBI GWAS Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
EBI GWAS Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (R)-3-amino-2-methylpropionate-pyruvate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alanine-glyoxylate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alanine-glyoxylate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-alanine-pyruvate transaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in L-alanine catabolic process, by transamination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-alanine catabolic process, by transamination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in N(omega),N(omega)-dimethyl-L-arginine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycine biosynthetic process, by transamination of glyoxylate IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glyoxylate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glyoxylate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of nitric oxide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
alanine--glyoxylate aminotransferase 2, mitochondrial
Names
(R)-3-amino-2-methylpropionate--pyruvate transaminase
D-3-aminoisobutyrate-pyruvate aminotransferase
D-beta-aminoisobutyrate-pyruvate aminotransferase
beta-ALAAT II
beta-alanine-pyruvate aminotransferase
NP_001293102.1
NP_114106.1
XP_005248394.1
XP_005248395.1
XP_016865237.1
XP_047273490.1
XP_054209149.1
XP_054209150.1
XP_054209151.1
XP_054209152.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001306173.2 → NP_001293102.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AJ292204, BC144268, DA633665
    Consensus CDS
    CCDS78000.1
    UniProtKB/TrEMBL
    B2RBJ5
    Related
    ENSP00000422799.1, ENST00000510428.1
    Conserved Domains (1) summary
    cd00610
    Location:70 → 430
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...

  2. NM_031900.4 → NP_114106.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_114106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AJ292204, DA633665
    Consensus CDS
    CCDS3908.1
    UniProtKB/Swiss-Prot
    B7ZM47, E9PDL7, Q53FB4, Q53FY7, Q53G03, Q5W7Q1, Q9BYV1
    UniProtKB/TrEMBL
    B2RBJ5
    Related
    ENSP00000231420.6, ENST00000231420.11
    Conserved Domains (2) summary
    cd00610
    Location:70 → 505
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:65 → 508
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    34998102..35047949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417534.1 → XP_047273490.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X4

  2. XM_005248337.4 → XP_005248394.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B2RBJ5
    Conserved Domains (2) summary
    cd00610
    Location:69 → 504
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:64 → 507
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

  3. XM_005248338.4 → XP_005248395.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X2

    UniProtKB/TrEMBL
    B2RBJ5
    Conserved Domains (2) summary
    cd00610
    Location:70 → 440
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
    COG0160
    Location:65 → 443
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

  4. XM_017009748.3 → XP_016865237.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X3

    UniProtKB/TrEMBL
    B2RBJ5
    Related
    ENSP00000479154.1, ENST00000618015.4
    Conserved Domains (1) summary
    cd00610
    Location:70 → 430
    OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    35245145..35294998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353177.1 → XP_054209152.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X4

  2. XM_054353174.1 → XP_054209149.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X1

  3. XM_054353175.1 → XP_054209150.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X2

  4. XM_054353176.1 → XP_054209151.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYV1.1 GenPept UniProtKB/Swiss-Prot:Q9BYV1

Gene LinkOut

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