Human Gene AGXT2 (ENST00000231420.11) from GENCODE V44
  Description: Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_031900)
RefSeq Summary (NM_031900): 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].
Gencode Transcript: ENST00000231420.11
Gencode Gene: ENSG00000113492.14
Transcript (Including UTRs)
   Position: hg38 chr5:34,998,102-35,047,949 Size: 49,848 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr5:34,998,719-35,047,892 Size: 49,174 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:34,998,102-35,047,949)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AGT2_HUMAN
DESCRIPTION: RecName: Full=Alanine--glyoxylate aminotransferase 2, mitochondrial; Short=AGT 2; EC=2.6.1.44; AltName: Full=(R)-3-amino-2-methylpropionate--pyruvate transaminase; EC=2.6.1.40; AltName: Full=Beta-ALAAT II; AltName: Full=Beta-alanine-pyruvate aminotransferase; AltName: Full=D-AIBAT; Flags: Precursor;
CATALYTIC ACTIVITY: L-alanine + glyoxylate = pyruvate + glycine.
CATALYTIC ACTIVITY: (R)-3-amino-2-methylpropanoate + pyruvate = 2- methyl-3-oxopropanoate + L-alanine.
COFACTOR: Pyridoxal phosphate.
SUBUNIT: Homotetramer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (Potential).
SIMILARITY: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AGXT2
Diseases sorted by gene-association score: primary hyperoxaluria (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.90 RPKM in Liver
Total median expression: 54.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0057-0.333 Picture PostScript Text
3' UTR -175.20617-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005814 - Aminotrans_3
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2

Pfam Domains:
PF00202 - Aminotransferase class-III

ModBase Predicted Comparative 3D Structure on Q9BYV1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0008453 alanine-glyoxylate transaminase activity
GO:0008483 transaminase activity
GO:0016740 transferase activity
GO:0030170 pyridoxal phosphate binding
GO:0042802 identical protein binding
GO:0047305 (R)-3-amino-2-methylpropionate-pyruvate transaminase activity

Biological Process:
GO:0009436 glyoxylate catabolic process
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate
GO:0019481 L-alanine catabolic process, by transamination
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0046487 glyoxylate metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AJ292204 - Homo sapiens mRNA for alanine-glyoxylate aminotransferase 2 (AGXT2 gene).
AK223128 - Homo sapiens mRNA for alanine-glyoxylate aminotransferase 2 precursor variant, clone: KDN02387.
AK223144 - Homo sapiens mRNA, alanine-glyoxylate aminotransferase 2 precursor variant, clone: KDN06667.
AB193309 - Homo sapiens AGT2 mRNA for beta-alanine-pyruvate aminotransferase, complete cds.
AK055732 - Homo sapiens cDNA FLJ31170 fis, clone KIDNE2000041, highly similar to Alanine--glyoxylate aminotransferase 2, mitochondrial precursor (EC 2.6.1.44).
AK055757 - Homo sapiens cDNA FLJ31195 fis, clone KIDNE2000513, highly similar to Alanine--glyoxylate aminotransferase 2, mitochondrial precursor (EC 2.6.1.44).
JD237029 - Sequence 218053 from Patent EP1572962.
JD566988 - Sequence 548012 from Patent EP1572962.
BC144268 - Homo sapiens alanine-glyoxylate aminotransferase 2, mRNA (cDNA clone MGC:177805 IMAGE:9052788), complete cds.
BC150603 - Homo sapiens alanine-glyoxylate aminotransferase 2, mRNA (cDNA clone MGC:183513 IMAGE:9056973), complete cds.
JD153854 - Sequence 134878 from Patent EP1572962.
JD222185 - Sequence 203209 from Patent EP1572962.
JD301404 - Sequence 282428 from Patent EP1572962.
JD545410 - Sequence 526434 from Patent EP1572962.
AK223375 - Homo sapiens mRNA for alanine-glyoxylate aminotransferase 2 precursor variant, clone: FCC104C11.
JD193776 - Sequence 174800 from Patent EP1572962.
JD167685 - Sequence 148709 from Patent EP1572962.
JD042942 - Sequence 23966 from Patent EP1572962.
JD045748 - Sequence 26772 from Patent EP1572962.
BC156124 - Synthetic construct Homo sapiens clone IMAGE:100062399, MGC:190504 alanine-glyoxylate aminotransferase 2 (AGXT2) mRNA, encodes complete protein.
BC156919 - Synthetic construct Homo sapiens clone IMAGE:100062783, MGC:190612 alanine-glyoxylate aminotransferase 2 (AGXT2) mRNA, encodes complete protein.
KU847977 - Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2) mRNA, complete cds.
AK314691 - Homo sapiens cDNA, FLJ95543, highly similar to Homo sapiens alanine-glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.
AK296109 - Homo sapiens cDNA FLJ55814 complete cds, highly similar to Alanine--glyoxylate aminotransferase 2, mitochondrial precursor (EC 2.6.1.44).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00250 - Alanine, aspartate and glutamate metabolism
hsa00260 - Glycine, serine and threonine metabolism

BioCyc Knowledge Library
GLYSYN-ALA-PWY - glycine biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9BYV1 (Reactome details) participates in the following event(s):

R-HSA-904864 Mitochondrial AGXT2 tetramer transaminates glyoxylate and alanine to glycine and pyruvate
R-HSA-909780 (R)-3-aminoisobutyric acid + pyruvate => 2-methyl-3-oxopropanoate + alanine
R-HSA-909776 beta-alanine + pyruvate => 3-oxopropanoate + alanine
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-73621 Pyrimidine catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-8956319 Nucleobase catabolism
R-HSA-1430728 Metabolism
R-HSA-15869 Metabolism of nucleotides

-  Other Names for This Gene
  Alternate Gene Symbols: AGT2, AGT2_HUMAN, ENST00000231420.1, ENST00000231420.10, ENST00000231420.2, ENST00000231420.3, ENST00000231420.4, ENST00000231420.5, ENST00000231420.6, ENST00000231420.7, ENST00000231420.8, ENST00000231420.9, NM_031900, Q53FB4, Q53FY7, Q53G03, Q5W7Q1, Q9BYV1, uc003jjf.1, uc003jjf.2, uc003jjf.3, uc003jjf.4, uc003jjf.5
UCSC ID: ENST00000231420.11
RefSeq Accession: NM_031900
Protein: Q9BYV1 (aka AGT2_HUMAN)
CCDS: CCDS3908.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.