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

Gene ID: 64902, updated on 23-Nov-2021

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
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
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Genomic context

See AGXT2 in Genome Data Viewer
Location:
5p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (34998099..35048188, complement)
105.20201022 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 DnaJ heat shock protein family (Hsp40) member C21 Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene prolactin receptor Neighboring gene RNA, U7 small nuclear 130 pseudogene Neighboring gene sperm flagellar 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of metabolic traits in human urine.
GeneReviews: Not available
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.
GeneReviews: Not available
Beta-aminoisobutyric aciduria
MedGen: C1859518 OMIM: 210100 GeneReviews: Not available
Compare labs
Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
GeneReviews: Not available
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
GeneReviews: Not available
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
alanine--glyoxylate aminotransferase 2, mitochondrial
Names
(R)-3-amino-2-methylpropionate--pyruvate transaminase
beta-ALAAT II
beta-alanine-pyruvate aminotransferase
NP_001293102.1
NP_114106.1
XP_005248394.1
XP_005248395.1
XP_016865237.1

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_001306173.2NP_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/Swiss-Prot
    Q9BYV1
    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
    Q9BYV1
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    34998099..35048188 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248337.3XP_005248394.1  alanine--glyoxylate aminotransferase 2, mitochondrial isoform X1

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

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

    UniProtKB/Swiss-Prot
    Q9BYV1
    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, ...
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