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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
  • (R)-3-Amino-2-Methylpropionate--Pyruvate Transaminase 3 4
  • AGT2 3 4
  • Alanine--Glyoxylate Aminotransferase 2, Mitochondrial 3
  • 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

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 Glyoxylate metabolism and glycine degradation and Viral mRNA Translation. 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 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 , fRNAdb sequence ontologies 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
GH05I035046 Enhancer 0.6 ENCODE 550.8 +0.5 460 3.3 RXRA MAX REST RAD21 YY1 JUND HNF4G HNF4A FOS AGXT2 DNAJC21 PRLR
GH05I035022 Enhancer 0.6 ENCODE 11.8 +24.6 24621 1.3 SCRT1 ZNF555 RXRA MAX ZC3H11A HNF4A ZNF781 ZNF518A YY1 RAD1 AGXT2 DNAJC21
GH05I035026 Enhancer 0.6 ENCODE 11.8 +21.5 21537 0.2 FOXA2 NFIA RXRA MAX CEBPG RAD21 FOXA1 YY1 JUND ATF3 AGXT2 DNAJC21
GH05I035050 Enhancer 0.6 ENCODE 0.8 -2.9 -2850 1.7 FOXA2 RXRA FOXA3 TBX3 JUND CEBPA CREB1 HNF4G HNF4A MIXL1 AGXT2 ENSG00000250886 PRLR
GH05I035220 Enhancer 0.2 FANTOM5 1.6 -172.3 -172308 0.1 PRLR AGXT2 PIR44028 PIR49347
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGXT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGXT2 gene promoter:

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)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for AGXT2 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
L-alanine + glyoxylate = pyruvate + glycine.
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine.
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.

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 TAS --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IBA --
GO:0042802 identical protein binding IBA --
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

CRISPR Products

miRNA for AGXT2 Gene

miRTarBase miRNAs that target AGXT2

Inhibitory RNA Products

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

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 20018850
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate IDA 20018850
GO:0019481 L-alanine catabolic process, by transamination IDA 20018850
GO:0045429 positive regulation of nitric oxide biosynthetic process 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

(7) 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 254
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Pyruvic acid Approved, Investigational Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-b-aminoisobutyric acid
  • (-)-b-Aminoisobutyrate
  • (-)-b-Aminoisobutyric acid
  • (-)-beta-Aminoisobutyrate
  • (-)-beta-Aminoisobutyric acid
  • (2R)-3-amino-2-methyl-Propanoate
2140-95-6
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 2-Methyl-3-oxopropanoic acid
  • 3-Oxo-2-methylpropanoate
  • 3-Oxo-2-methylpropanoic acid
  • Ch3-malonate-semialdehyde
6236-08-4
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with AGXT2: view

Transcripts for AGXT2 Gene

Unigene Clusters for AGXT2 Gene

Alanine--glyoxylate aminotransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for AGXT2 Gene

GeneLoc Exon Structure for
AGXT2
ECgene alternative splicing isoforms for
AGXT2

Expression for AGXT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for AGXT2 Gene



Protein tissue co-expression partners for AGXT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGXT2 Gene:

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

Primer Products

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 34 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGXT2 33 34
  • 86.64 (n)
dog
(Canis familiaris)
Mammalia AGXT2 33 34
  • 86.29 (n)
mouse
(Mus musculus)
Mammalia Agxt2 33 16 34
  • 84.47 (n)
rat
(Rattus norvegicus)
Mammalia Agxt2 33
  • 83.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AGXT2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGXT2 33 34
  • 71.4 (n)
lizard
(Anolis carolinensis)
Reptilia AGXT2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agxt2 33
  • 65.41 (n)
zebrafish
(Danio rerio)
Actinopterygii agxt2 33 34
  • 60.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11241 35 33 34
  • 56.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012404 33
  • 56.43 (n)
worm
(Caenorhabditis elegans)
Secernentea T09B4.8 35 33 34
  • 57.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 34
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGT2 33
  • 54.39 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3270 33
rice
(Oryza sativa)
Liliopsida Os03g0171900 33
  • 52.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for AGXT2 Gene

Paralogs for AGXT2 Gene

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

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 from dbSNP and Humsavar for AGXT2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs37369 affects, Beta-aminoisobutyric aciduria 35,037,010(-) C/T coding_sequence_variant, missense_variant
rs114286107 likely-benign, not specified 35,012,953(-) C/T intron_variant, splice_donor_variant
rs1000010591 -- 35,013,125(-) T/C intron_variant
rs1000041772 -- 35,013,408(-) C/T intron_variant
rs1000147378 -- 35,014,503(-) C/T intron_variant

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

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

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

Disorders for AGXT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AGXT2 Gene - From: HGMD, OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
beta-aminoisobutyric aciduria
  • baiba
primary hyperoxaluria
  • glycolic aciduria
- 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 22 25 58
  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 22 58
  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 58
  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 58
  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 58

Products for AGXT2 Gene

Sources for AGXT2 Gene

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