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

    Gene ID: 64902, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34998102..35047949, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35245145..35294998, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Kidney and liver are the main organs of expression of a key metabolic enzyme alanine:glyoxylate aminotransferase 2 in humans. Jarzebska N, et al. Atheroscler Suppl, 2019 Dec. PMID 31818439
    2. Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan. Kumon H, et al. J Neural Transm (Vienna), 2024 Mar. PMID 38261033, Free PMC Article
    3. Pharmacology and clinical pharmacology of methylarginines used as inhibitors of nitric oxide synthases. Kittel A, et al. Curr Pharm Des, 2014. PMID 24180385
    4. Nitric oxide synthase inhibition and oxidative stress in cardiovascular diseases: possible therapeutic targets? Rochette L, et al. Pharmacol Ther, 2013 Dec. PMID 23859953
    5. Genetic variations in the alanine-glyoxylate aminotransferase 2 (AGXT2) gene and dimethylarginines levels in rheumatoid arthritis. Dimitroulas T, et al. Amino Acids, 2017 Jun. PMID 28357606

    See all (46) 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
    		not available

    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)

    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

      UniProtKB/TrEMBL
      B2RBJ5

    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

      UniProtKB/TrEMBL
      B2RBJ5

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

      UniProtKB/TrEMBL
      B2RBJ5

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

      UniProtKB/TrEMBL
      B2RBJ5

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

      UniProtKB/TrEMBL
      B2RBJ5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYV1.1 GenPept UniProtKB/Swiss-Prot:Q9BYV1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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