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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGXT2 Gene

protein-coding   GIFtS: 58
GCID: GC05M035033

Alanine--Glyoxylate Aminotransferase 2

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and tuberculosis, and among its related super-pathways are Glyoxylate metabolism and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AGXT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYV1

  • AGXT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGXT2 Protein Expression
    REFSEQ proteins: NP_114106.1  
    ENSEMBL proteins: 
     ENSP00000231420   ENSP00000422799  
    Reactome Protein details: Q9BYV1
    Human Recombinant Protein Products for AGXT2: 
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    Novus Biologicals AGXT2 Protein
    Novus Biologicals AGXT2 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AGXT2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    AGXT2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for AGXT2


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

    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


    AGXT2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    AGXT2 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AGXT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AGXT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGXT2 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate AGXT2:
    hsa-miR-526b
    SwitchGear 3'UTR luciferase reporter plasmidAGXT2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGXT2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1glycine biosynthesis III
    Glyoxylate metabolism0.40
    glycine biosynthesis III0.40
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Pyrimidine metabolism
    Pyrimidine metabolism0.50
    Pyrimidine catabolism0.50
    4Purine metabolism
    Metabolism of nucleotides0.42
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AGXT2
        glycine biosynthesis III

    5/6        Reactome Pathways for AGXT2 (see all 6)
        Metabolism of nucleotides
    Glyoxylate metabolism
    Metabolism
    Pyrimidine catabolism
    Pyrimidine metabolism


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


    AGXT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGXT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/18 Interacting proteins for AGXT2 (ENSP000002314204) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026204STRING: ENSP00000302620
    ALAS2ENSP000003323694STRING: ENSP00000332369
    GATMENSP000003798954STRING: ENSP00000379895
    GCATENSP000002489244STRING: ENSP00000248924
    GLDCENSP000003707374STRING: ENSP00000370737
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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--

    AGXT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about AGXT2 / AGT2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA Assays for microRNA that regulate AGXT2:
    hsa-miR-526b
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    Inhib. RNA
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    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 

    24/54 AceView cDNA sequences (see all 54):

    BX114278 NM_031900 AA707382 AJ292204 AI051580 AA704705 AA938679 AA875830 
    BX497182 AK055757 AW024967 AW135507 N69106 AA203427 CB163357 BG399088 
    BG430022 BG433449 BV192826 AA975082 AI085405 AW611663 AK055732 T74930 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGXT2 expression in normal human tissues (normalized intensities)      AGXT2 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)

    See AGXT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGXT2

    SOURCE GeneReport for Unigene cluster: Hs.34494
        SABiosciences Custom PCR Arrays for AGXT2
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AGXT2 gene from 10/24 species (see all 24)    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 71.94(n)
    70.46(a)
      431666  XM_429219.3  XP_429219.2 
    lizard
    (Anolis carolinensis)
    Reptilia AGXT26
    Uncharacterized protein
    63(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
    56.64(n)1
    56.06(a)1
      80A13
    404921  NM_168960.31  NP_730741.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T09B4.81 , 3 aminotransferase3
    Protein T09B4.81
    53(a)3
    57.21(n)1
    54.14(a)1
      I(6172741-6174596)3
    1723011  NM_059376.61  NP_491777.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG86
    Acetylornithine aminotransferase, catalyzes the fo...
    26(a)
    1 → many
    XV(58759-60030)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGT21 alanine:glyoxylate aminotransferase 2 54(n)
    47.83(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)
    About This Section
    Paralogs for AGXT2 gene
    ETNPPL2  PHYKPL2  
    3 SIMAP similar genes for AGXT2 using alignment to 3 protein entries:     AGT2_HUMAN (see all proteins):
    AGXT2L1    ETNPPL    PHYKPL

    AGXT2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1305 SNPs in AGXT2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612471    OMIM disorders: --

    2 diseases for AGXT2:    About MalaCards
    primary hyperoxaluria    tuberculosis


    AGXT2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AGXT2 gene, integrated from 9 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. (2004)
    2. Human alanine-glyoxylate aminotransferase 2 lowers as ymmetric dimethylarginine and protects from inhibition of nitric oxide producti on. (PubMed id 20018850)1, 2, 9 Rodionov R.N....Lentz S.R. (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. (1995)
    4. Alanine-Glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure. (PubMed id 23023372)1, 2 Caplin B.... Leiper J. (2012)
    5. A genome-wide metabolic QTL analysis in Europeans impl icates two loci shaped by recent positive selection. (PubMed id 21931564)1, 4 Nicholson G....Holmes C.C. (2011)
    6. A genome-wide association study of metabolic traits i n human urine. (PubMed id 21572414)1, 4 Suhre K....Nauck M. (2011)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    9. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64902 HGNC: 14412 AceView: AGXT2 Ensembl:ENSG00000113492 euGenes: HUgn64902
    ECgene: AGXT2 Kegg: 64902 H-InvDB: AGXT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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