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AGXT2 Gene

protein-coding   GIFtS: 58
GCID: GC05M035033

Alanine--Glyoxylate Aminotransferase 2

(Previous name: alanine-glyoxylate aminotransferase 2)
  See AGXT2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alanine--Glyoxylate Aminotransferase 21 2     DAIBAT2
Beta-ALAAT II1 2 3     Alanine--Glyoxylate Aminotransferase 2, Mitochondrial2
Beta-Alanine-Pyruvate Aminotransferase1 2 3     D-AIBAT3
AGT22 3 5     EC 2.6.1.403
(R)-3-Amino-2-Methylpropionate--Pyruvate Transaminase2 3     EC 2.6.1.443
Alanine-Glyoxylate Aminotransferase 21     AGT 23

External Ids:    HGNC: 144121   Entrez Gene: 649022   Ensembl: ENSG000001134927   OMIM: 6124715   UniProtKB: Q9BYV13   

Export aliases for AGXT2 gene to outside databases

Previous GC identifers: GC05M035031 GC05M036024 GC05M035043


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Dec
2008)

GeneCards Summary for AGXT2 Gene:
AGXT2 (alanine--glyoxylate aminotransferase 2) is a protein-coding gene. Diseases associated with AGXT2 include primary hyperoxaluria. GO annotations related to this gene include pyridoxal phosphate binding and beta-alanine-pyruvate transaminase activity. An important paralog of this gene is ETNPPL.

UniProtKB/Swiss-Prot: AGT2_HUMAN, Q9BYV1
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGXT2 gene promoter:
         HOXA9   HOXA9B   PPAR-alpha   Sox5   POU2F1   HOXA5   FOXD1   Meis-1a   Meis-1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGXT2 promoter sequence
   Search Chromatin IP Primers for AGXT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGXT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13

AGXT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGXT2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M035033:  view genomic region     (about GC identifiers)

Start:
34,998,206 bp from pter      End:
35,048,240 bp from pter
Size:
50,035 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGT2_HUMAN, Q9BYV1 (See protein sequence)
Recommended Name: Alanine--glyoxylate aminotransferase 2, mitochondrial precursor  
Size: 514 amino acids; 57156 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer (By similarity)
Secondary accessions: Q53FB4 Q53FY7 Q53G03 Q5W7Q1

Explore the universe of human proteins at neXtProt for AGXT2: NX_Q9BYV1

Explore proteomics data for AGXT2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AGXT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_114106.1  
    ENSEMBL proteins: 
     ENSP00000231420   ENSP00000422799  
    Reactome Protein details: Q9BYV1

    AGXT2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for AGXT2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR005814 Aminotrans_3
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q9BYV1

    ProtoNet protein and cluster: Q9BYV1

    1 Blocks protein domain: IPB005814 Aminotransferase class-III

    UniProtKB/Swiss-Prot: AGT2_HUMAN, Q9BYV1
    Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with AGXT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGT2_HUMAN, Q9BYV1
    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
    Catalytic activity: L-alanine + glyoxylate = pyruvate + glycine
    Catalytic activity: (R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine

         Enzyme Numbers (IUBMB): EC 2.6.1.401 EC 2.6.1.441

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008453alanine-glyoxylate transaminase activity TAS--
    GO:0008483transaminase activity ----
    GO:0016223beta-alanine-pyruvate transaminase activity IEA--
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0047305(R)-3-amino-2-methylpropionate-pyruvate transaminase activity IEA--
         
    Find genes that share ontologies with AGXT2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for AGXT2:
     Increased cell number in G1, s 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGXT2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGXT2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AGXT2

    miRNA
    Products:
        
    miRTarBase miRNAs that target AGXT2:
    hsa-mir-335-5p (MIRT019037)

    Block miRNA regulation of human, mouse, rat AGXT2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AGXT2:
    hsa-miR-526b
    SwitchGear 3'UTR luciferase reporter plasmidAGXT2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGXT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AGT2_HUMAN, Q9BYV1: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with AGXT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AGXT2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Glycine, serine and threonine metabolism
    glycine biosynthesis III0.00
    glycine biosynthesis0.00
    Glycine, serine and threonine metabolism
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Pyrimidine metabolism
    Pyrimidine metabolism0.33
    Pyrimidine catabolism0.00
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Glyoxylate metabolism0.00
    5Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42


    Find genes that share SuperPaths with AGXT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for AGXT2
        glycine biosynthesis III
    glycine biosynthesis

    2 Reactome Pathways for AGXT2
        Glyoxylate metabolism
    Pyrimidine catabolism


    3 Kegg Pathways  (Kegg details for AGXT2):
        Alanine, aspartate and glutamate metabolism
    Glycine, serine and threonine metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGXT2
    Interactions:

        Search GeneGlobe Interaction Network for AGXT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AGXT2 (ENSP000002314204) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026204STRING: ENSP00000302620
    GATMENSP000003798954STRING: ENSP00000379895
    GLDCENSP000003707374STRING: ENSP00000370737
    GNMTENSP000003618944STRING: ENSP00000361894
    SARDHENSP000003609384STRING: ENSP00000360938
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0009436glyoxylate catabolic process IDA--
    GO:0019265glycine biosynthetic process, by transamination of glyoxylate IDA--
    GO:0019481L-alanine catabolic process, by transamination IDA--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with AGXT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AGXT2 (AGT2)

    9 HMDB Compounds for AGXT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    FamotidineAmfamox (see all 83)76824-35-6--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Glyoxylic acidFormylformate (see all 16)298-12-4--
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    4 DrugBank Compounds for AGXT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--15240345 17139284 17016423 6703688
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--2907870 17139284 17016423 6703688
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 7592550 17016423 6703688
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--17139284 17016423 2632679



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AGXT2 gene: 
    NM_031900.3  

    Unigene Cluster for AGXT2:

    Alanine--glyoxylate aminotransferase 2
    Hs.34494  [show with all ESTs]
    Unigene Representative Sequence: NM_031900
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000231420(uc003jjf.3 uc011com.2 uc021xxk.1) ENST00000512135(uc003jje.1)
    ENST00000510428 ENST00000505349 ENST00000505542(uc011con.2)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate AGXT2:
    hsa-miR-526b
    SwitchGear 3'UTR luciferase reporter plasmidAGXT2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat AGXT2

    Additional mRNA sequence: 

    AB193309.1 AJ292204.1 AK055732.1 AK055757.1 AK223128.1 AK223144.1 AK223375.1 AK296109.1 
    AK314691.1 BC144268.1 BC150603.1 

    5 DOTS entries:

    DT.214018  DT.87009057  DT.95344183  DT.307217  DT.40210639 

    Selected AceView cDNA sequences (see all 54):

    BX114278 AA707382 AJ292204 NM_031900 AI051580 AA704705 AK055757 AK055732 
    BX497182 AW024967 AW611663 BV192826 AA875830 AA975082 N69106 BG399088 
    AW135507 AI085405 AA203427 BG433449 CB163357 AI650913 AA938679 BG430022 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGXT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGACAACCC
    AGXT2 Expression
    About this image


    AGXT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    AGXT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGXT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.34494
        Custom PCR Arrays for AGXT2
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGXT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AGXT2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agxt21 , 5 alanine-glyoxylate aminotransferase 21, 5 84.47(n)1
    84.99(a)1
      15 (5.35 cM)5
    2687821  NM_001031851.11  NP_001027021.11 
     103585325 
    chicken
    (Gallus gallus)
    Aves AGXT21 alanine--glyoxylate aminotransferase 2 71.4(n)
    69.94(a)
      431666  XM_429219.4  XP_429219.3 
    lizard
    (Anolis carolinensis)
    Reptilia AGXT26
    alanine--glyoxylate aminotransferase 2
    64(a)
    1 ↔ 1
    GL343241.1(1991431-2016092)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ084256.12   -- 75.18(n)    BJ084256.1 
    zebrafish
    (Danio rerio)
    Actinopterygii agxt21 alanine-glyoxylate aminotransferase 2 60.53(n)
    57.82(a)
      619269  NM_001033750.1  NP_001028922.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG112411 , 3 alanine-glyoxylate aminotransferase3
    CG112411
    56(a)3
    56.56(n)1
    55.7(a)1
      80A13
    404921  NM_168960.41  NP_730741.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T09B4.81 , 3 aminotransferase3
    T09B4.81
    53(a)3
    57.29(n)1
    54.14(a)1
      I(6172741-6174596)3
    1723011  NM_059376.71  NP_491777.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG86
    Acetylornithine aminotransferase, catalyzes the fo...
    27(a)
    1 → many
    XV(58759-60030) YOL140W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGT21 AGT2 54.39(n)
    48.28(a)
      830120  NM_120126.4  NP_568064.1 
    rice
    (Oryza sativa)
    Liliopsida AK105642.12   -- 74.8(n)    AK105642.1 


    ENSEMBL Gene Tree for AGXT2 (if available)
    TreeFam Gene Tree for AGXT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGXT2 gene
    ETNPPL2  PHYKPL2  
    2 SIMAP similar genes for AGXT2 using alignment to 3 protein entries:     AGT2_HUMAN (see all proteins):
    ETNPPL    PHYKPL

    Find genes that share paralogs with AGXT2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGXT2 (see all 1305)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs131535641,2
    C,Huntested134998444(+) ctgaaA/G/Tagtga 1 -- ut31 ese34NS EA 420
    rs1915808961,2
    --34997734(+) CAAAAA/TATTAG 1 -- ds50010--------
    rs43570121,2
    C,F,A,H--34997883(+) ccgtcC/Tcaaaa 1 -- ds50014Minor allele frequency- T:0.25NA WA 8
    rs348370021,2
    C--34997884(+) GTCTC-/AAAAAA 1 -- ds50010--------
    rs113909501,2
    C--34997894(+) AAAAAA/-AAAAA 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1499786511,2
    --34998231(+) TACCTC/TAAATA 1 -- ut310--------
    rs561915071,2
    C--34998239(+) TATCA-/AGAGGC 1 -- ut311Minor allele frequency- A:0.00NA 2
    rs77066251,2
    C,F,H--34998256(+) GGTAGG/AGTGGC 1 -- ut31 ese34Minor allele frequency- A:0.01NS EA 420
    rs1886292311,2
    --34998363(+) CAAGCC/TGGCTG 1 -- ut310--------
    rs1443061311,2
    --34998476(+) AAGGCA/GCCTCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AGXT2 (34998206 - 35048240 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AGXT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv881607CNV Loss21882294
    dgv6032n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): AGXT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGXT2
    DNA2.0 Custom Variant and Variant Library Synthesis for AGXT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612471    OMIM disorders: --

    1 disease for AGXT2:    
    About MalaCards
    primary hyperoxaluria


    Find genes that share disorders with AGXT2           About GenesLikeMe

    Genetic Association Database (GAD): AGXT2
    Human Genome Epidemiology (HuGE) Navigator: AGXT2 (1 document)

    Export disorders for AGXT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AGXT2 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with AGXT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glycolate and glyoxylate metabolism in HepG2 cells. (PubMed id 15240345)1, 3, 7, 9 Baker P.R....Holmes R.P. (Am. J. Physiol., Cell Physiol. 2004)
    2. Human alanine-glyoxylate aminotransferase 2 lowers asymmetric dimethylarginine and protects from inhibition of nitric oxide production. (PubMed id 20018850)1, 2, 9 Rodionov R.N.... Lentz S.R. (J. Biol. Chem. 2010)
    3. Molecular cloning and sequencing of a cDNA encoding alanine- glyoxylate aminotransferase 2 from rat kidney. (PubMed id 7592550)1, 7, 9 Matsui-Lee I.S.... Kido R. (J. Biochem. 1995)
    4. Alanine-Glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure. (PubMed id 23023372)1, 2 Caplin B.... Leiper J. (Arterioscler. Thromb. Vasc. Biol. 2012)
    5. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. (PubMed id 21931564)1, 4 Nicholson G....Holmes C.C. (PLoS Genet. 2011)
    6. A genome-wide association study of metabolic traits in human urine. (PubMed id 21572414)1, 4 Suhre K....Nauck M. (Nat. Genet. 2011)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64902 HGNC: 14412 AceView: AGXT2 Ensembl:ENSG00000113492 euGenes: HUgn64902
    ECgene: AGXT2 Kegg: 64902 H-InvDB: AGXT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGXT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGXT2 gene:
    Search GeneIP for patents involving AGXT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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