1. Gene
  2. AGXT2 - alanine--glyoxylate aminotransferase 2 Gene

AGXT2 - alanine--glyoxylate aminotransferase 2 Gene

Homo sapiens

Also known as AGT2; BAIBA; DAIBAT

Gene ID: 64902 | Gene type: protein coding

About AGXT2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:34,998,102-35,047,949 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 69.3) and liver (RPKM 24.9).

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]

AGXT2 Products(2)

mRNA Protein Name
NM_001306173.2 NP_001293102.1 alanine--glyoxylate aminotransferase 2, mitochondrial isoform b precursor
NM_031900.4 NP_114106.1 alanine--glyoxylate aminotransferase 2, mitochondrial isoform a precursor

AGXT2 Protein Structure

Aminotran_3

Aminotran_3: Aminotransferase class-III (94 - 443)

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  • 514 a.a.
Protein Preferred Names Protein Names

alanine--glyoxylate aminotransferase 2, mitochondrial

(R)-3-amino-2-methylpropionate--pyruvate transaminase

Related Diseases

Diseases Alias
Beta-Aminoisobutyric Aciduria

Beta-Aminoisobutyric Acid, Urinary Excretion Of

BAIBA

Baib Urinary Excretion

Hyper-Beta-Aminoisobutyric Aciduria

Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2

D-Glycerate Dehydrogenase Deficiency

Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency

HP2

Oxalosis Ii

Glyceric Aciduria

L-Glyceric Aciduria

Primary Hyperoxaluria, Type Ii

Oxalosis 2

Hyperoxaluria Primary 2

Hyperoxaluria Primary Type Ii

Ph2

Primary Hyperoxaluria Type Ii

Iminoglycinuria

Iminoglycinuria, Digenic

IG

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus AGXT2 VGNC VGNC:97343
Rattus norvegicus AGXT2 RGD RGD:621767
Macaca mulatta AGXT2 VGNC VGNC:81349
Canis familiaris AGXT2 VGNC VGNC:50868
Mus musculus AGXT2 MGD MGI:2146052