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

    Gene ID: 64902, updated on 28-Oct-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001306173.2NP_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:70430
      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_031900.4NP_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:70505
      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:65508
      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_047417534.1XP_047273490.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X4

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

      UniProtKB/TrEMBL
      B2RBJ5
      Conserved Domains (2) summary
      cd00610
      Location:69504
      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:64507
      GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
    3. XM_005248338.4XP_005248395.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B2RBJ5
      Conserved Domains (2) summary
      cd00610
      Location:70440
      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:65443
      GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
    4. XM_017009748.3XP_016865237.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B2RBJ5
      Related
      ENSP00000479154.1, ENST00000618015.4
      Conserved Domains (1) summary
      cd00610
      Location:70430
      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_054353177.1XP_054209152.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X4

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

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

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