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-aminoisobutyrat... See more...

Aliases for AGXT2 Gene

Aliases for AGXT2 Gene

  • Alanine--Glyoxylate Aminotransferase 2 2 3 5
  • Beta-Alanine-Pyruvate Aminotransferase 2 3 4
  • Beta-ALAAT II 2 3 4
  • Alanine--Glyoxylate Aminotransferase 2, Mitochondrial 3 4
  • (R)-3-Amino-2-Methylpropionate--Pyruvate Transaminase 3 4
  • AGT2 3 4
  • Alanine-Glyoxylate Aminotransferase 2 2
  • EC 2.6.1.44 4
  • EC 2.6.1.40 4
  • D-AIBAT 4
  • DAIBAT 3
  • BAIBA 3
  • AGT 2 4

External Ids for AGXT2 Gene

Previous GeneCards Identifiers for AGXT2 Gene

  • GC05M035031
  • GC05M036024
  • GC05M035043
  • GC05M035033

Summaries for AGXT2 Gene

Entrez Gene Summary for AGXT2 Gene

  • 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]

GeneCards Summary for AGXT2 Gene

AGXT2 (Alanine--Glyoxylate Aminotransferase 2) is a Protein Coding gene. Diseases associated with AGXT2 include Beta-Aminoisobutyric Aciduria and Primary Hyperoxaluria. Among its related pathways are Valine, leucine and isoleucine degradation and Glyoxylate metabolism and glycine degradation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and alanine-glyoxylate transaminase activity. An important paralog of this gene is ETNPPL.

UniProtKB/Swiss-Prot Summary for AGXT2 Gene

  • Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.

Additional gene information for AGXT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGXT2 Gene

Genomics for AGXT2 Gene

GeneHancer (GH) Regulatory Elements for AGXT2 Gene

Promoters and enhancers for AGXT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J035046 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 500.7 +0.5 460 3.3 FOS USF1 JUND EZH2 MAFK RAD21 MAX HMG20A HNF4A REST AGXT2 DNAJC21 RF01061-135 PRLR
GH05J035026 Enhancer 0.6 ENCODE 11.8 +21.5 21537 0.2 FOXA2 CEBPB JUND RAD21 RXRA MAX HNF4A FOXA1 CEBPG YY1 AGXT2 RF01061-135 piR-61580-505
GH05J035022 Enhancer 0.6 ENCODE 11.8 +24.6 24621 1.3 ZNF426 SCRT1 RXRA MAX ZNF34 ZC3H11A HNF4A ZNF781 ZNF518A ZNF555 RAD1 BRIX1 AGXT2 piR-61580-505 RF01061-135
GH05J035088 Enhancer 0.6 Ensembl 11 -41.5 -41513 0.2 CTCF REST TRIM22 TEAD1 SMC3 RAD21 MBD1 ZNF654 RFX5 TEAD3 AGXT2 CAPSL ENSG00000249748 ENSG00000250886 lnc-DNAJC21-2 piR-59297-538 PRLR
GH05J035091 Enhancer 0.2 Ensembl 11 -43.8 -43813 0.8 AGXT2 CAPSL ENSG00000249748 ENSG00000250886 lnc-DNAJC21-2 piR-59297-538 PRLR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGXT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGXT2

Top Transcription factor binding sites by QIAGEN in the AGXT2 gene promoter:
  • FOXD1
  • FOXL1
  • HOXA5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • POU2F1
  • PPAR-alpha
  • Sox5

Genomic Locations for AGXT2 Gene

Genomic Locations for AGXT2 Gene
chr5:34,998,101-35,048,188
(GRCh38/hg38)
Size:
50,088 bases
Orientation:
Minus strand
chr5:34,998,206-35,048,240
(GRCh37/hg19)
Size:
50,035 bases
Orientation:
Minus strand

Genomic View for AGXT2 Gene

Genes around AGXT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGXT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGXT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGXT2 Gene

Proteins for AGXT2 Gene

  • Protein details for AGXT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYV1-AGT2_HUMAN
    Recommended name:
    Alanine--glyoxylate aminotransferase 2, mitochondrial
    Protein Accession:
    Q9BYV1
    Secondary Accessions:
    • B7ZM47
    • E9PDL7
    • Q53FB4
    • Q53FY7
    • Q53G03
    • Q5W7Q1

    Protein attributes for AGXT2 Gene

    Size:
    514 amino acids
    Molecular mass:
    57156 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for AGXT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGXT2 Gene

Post-translational modifications for AGXT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGXT2 Gene

No data available for DME Specific Peptides for AGXT2 Gene

Domains & Families for AGXT2 Gene

Gene Families for AGXT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AGXT2 Gene

Blocks:
  • Aminotransferase class-III
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AGXT2 Gene

GenScript: Design optimal peptide antigens:
  • D-AIBAT (AGT2_HUMAN)
  • AGXT2 protein (B7ZM47_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYV1

UniProtKB/Swiss-Prot:

AGT2_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with AGXT2: view

Function for AGXT2 Gene

Molecular function for AGXT2 Gene

UniProtKB/Swiss-Prot Function:
Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glyoxylate + L-alanine = glycine + pyruvate; Xref=Rhea:RHEA:24248, ChEBI:CHEBI:15361, ChEBI:CHEBI:36655, ChEBI:CHEBI:57305, ChEBI:CHEBI:57972; EC=2.6.1.44;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine; Xref=Rhea:RHEA:18393, ChEBI:CHEBI:15361, ChEBI:CHEBI:57700, ChEBI:CHEBI:57731, ChEBI:CHEBI:57972; EC=2.6.1.40;.

Enzyme Numbers (IUBMB) for AGXT2 Gene

Phenotypes From GWAS Catalog for AGXT2 Gene

Gene Ontology (GO) - Molecular Function for AGXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008453 alanine-glyoxylate transaminase activity IDA,IEA 20018850
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0047305 (R)-3-amino-2-methylpropionate-pyruvate transaminase activity IEA --
genes like me logo Genes that share ontologies with AGXT2: view
genes like me logo Genes that share phenotypes with AGXT2: view

Animal Models for AGXT2 Gene

MGI Knock Outs for AGXT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for AGXT2

CRISPR Products

miRNA for AGXT2 Gene

miRTarBase miRNAs that target AGXT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGXT2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGXT2 Gene

Localization for AGXT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGXT2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGXT2 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AGXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20018850
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with AGXT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGXT2 Gene

Pathways & Interactions for AGXT2 Gene

genes like me logo Genes that share pathways with AGXT2: view

Gene Ontology (GO) - Biological Process for AGXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009436 glyoxylate catabolic process IDA,IBA 20018850
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate IDA 20018850
GO:0019481 L-alanine catabolic process, by transamination IBA,IDA 20018850
GO:0045429 positive regulation of nitric oxide biosynthetic process IBA,IDA 20018850
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with AGXT2: view

No data available for SIGNOR curated interactions for AGXT2 Gene

Drugs & Compounds for AGXT2 Gene

(8) Drugs for AGXT2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 369
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
Pyruvic acid Approved, Investigational Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 73
Glutamic acid Approved Nutra Full agonist, Agonist 289

(2) Additional Compounds for AGXT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-b-aminoisobutyric acid
  • (2R)-3-amino-2-Methylpropanoic acid
  • (R)-3-amino-2-Methylpropanoate
  • (R)-beta-Aminoisobutyric acid
  • D-3-amino-Isobutanoate
  • (2R)-3-amino-2-Methylpropanoate
2140-95-6
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 3-oxo-2-Methylpropanoate
  • Methylmalonate semialdehyde
  • 3-oxo-2-Methylpropanoic acid
  • Methylmalonic acid semialdehyde
6236-08-4
genes like me logo Genes that share compounds with AGXT2: view

Transcripts for AGXT2 Gene

mRNA/cDNA for AGXT2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGXT2

Alternative Splicing Database (ASD) splice patterns (SP) for AGXT2 Gene

No ASD Table

Relevant External Links for AGXT2 Gene

GeneLoc Exon Structure for
AGXT2

Expression for AGXT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGXT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGXT2 Gene

This gene is overexpressed in Liver (x29.2) and Kidney - Cortex (x23.3).

Protein differential expression in normal tissues from HIPED for AGXT2 Gene

This gene is overexpressed in Kidney (33.1), Gallbladder (19.7), and Plasma (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGXT2 Gene



Protein tissue co-expression partners for AGXT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGXT2

SOURCE GeneReport for Unigene cluster for AGXT2 Gene:

Hs.34494

Evidence on tissue expression from TISSUES for AGXT2 Gene

  • Kidney(4.8)
  • Liver(4.5)
genes like me logo Genes that share expression patterns with AGXT2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGXT2 Gene

Orthologs for AGXT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGXT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGXT2 31 30
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGXT2 31 30
  • 86.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGXT2 31 30
  • 86.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Agxt2 17 31 30
  • 84.47 (n)
rat
(Rattus norvegicus)
Mammalia Agxt2 30
  • 83.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AGXT2 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGXT2 31 30
  • 71.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGXT2 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agxt2 30
  • 65.41 (n)
zebrafish
(Danio rerio)
Actinopterygii agxt2 31 30
  • 60.53 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11241 31 32 30
  • 56.56 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012404 30
  • 56.43 (n)
worm
(Caenorhabditis elegans)
Secernentea T09B4.8 31 32 30
  • 57.29 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 31
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGT2 30
  • 54.39 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3270 30
rice
(Oryza sativa)
Liliopsida Os03g0171900 30
  • 52.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for AGXT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGXT2 Gene

ENSEMBL:
Gene Tree for AGXT2 (if available)
TreeFam:
Gene Tree for AGXT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGXT2: view image

Paralogs for AGXT2 Gene

Paralogs for AGXT2 Gene

(2) SIMAP similar genes for AGXT2 Gene using alignment to 3 proteins:

  • AGT2_HUMAN
  • B7ZM47_HUMAN
  • E9PDL7_HUMAN
genes like me logo Genes that share paralogs with AGXT2: view

Variants for AGXT2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AGXT2 Gene

AGT2_HUMAN-Q9BYV1
Genetic variants in AGXT2 are association with beta-aminoisobutyric aciduria (BAIBA)[MIM:210100]. Excretion of beta-aminoisobutyric acid in urine is a common, benign, metabolic trait.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGXT2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
709029 Benign: not provided 35,032,776(-) C/T MISSENSE_VARIANT
723368 Benign: not provided 35,037,030(-) C/T MISSENSE_VARIANT
734731 Likely Benign: not provided 35,003,869(-) T/C INTRON_VARIANT
745802 Likely Benign: not provided 35,039,398(-) G/C SYNONYMOUS_VARIANT
769649 Benign: not provided 35,033,526(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AGXT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AGXT2 Gene

Variant ID Type Subtype PubMed ID
esv3604691 CNV gain 21293372
nsv1028968 CNV gain 25217958
nsv1139835 CNV duplication 24896259
nsv1149752 CNV duplication 26484159
nsv597810 CNV gain 21841781

Variation tolerance for AGXT2 Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.77; 91.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGXT2 Gene

Human Gene Mutation Database (HGMD)
AGXT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGXT2

SNP Genotyping and Copy Number Assay Products

Disorders for AGXT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AGXT2 Gene - From: OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
beta-aminoisobutyric aciduria
  • baiba
primary hyperoxaluria
  • glycolic aciduria
cerebral creatine deficiency syndrome 3
  • ccds3
- elite association - COSMIC cancer census association via MalaCards
Search AGXT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGXT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AGXT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGXT2 Gene

Publications for AGXT2 Gene

  1. Glycolate and glyoxylate metabolism in HepG2 cells. (PMID: 15240345) Baker PR … Holmes RP (American journal of physiology. Cell physiology 2004) 2 3 23 26 54
  2. Human alanine-glyoxylate aminotransferase 2 lowers asymmetric dimethylarginine and protects from inhibition of nitric oxide production. (PMID: 20018850) Rodionov RN … Lentz SR (The Journal of biological chemistry 2010) 3 4 23 54
  3. Association of the AGXT2 V140I polymorphism with risk for coronary heart disease in a Chinese population. (PMID: 24834905) Zhou JP … Chen XP (Journal of atherosclerosis and thrombosis 2014) 3 4 54
  4. Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and β-aminoisobutyrate metabolism in healthy volunteers. (PMID: 24586340) Kittel A … Maas R (PloS one 2014) 3 4 54
  5. Alanine-glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure. (PMID: 23023372) Caplin B … Leiper J (Arteriosclerosis, thrombosis, and vascular biology 2012) 3 4 54

Products for AGXT2 Gene

Sources for AGXT2 Gene