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HAGH Gene

protein-coding   GIFtS: 64
GCID: GC16M001845

Hydroxyacylglutathione Hydrolase

(Previous name: hydroxyacyl glutathione hydrolase)
  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)
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Aliases
Hydroxyacylglutathione Hydrolase1 2     Hydroxyacyl Glutathione Hydrolase1
GLO22 3 5     GLX22
Glx II2 3     GLXII2
Glyoxalase II2 3     Hydroxyacylglutathione Hydrolase, Mitochondrial2
HAGH12 3     Hydroxyacylglutathione Hydroxylase2
EC 3.1.2.63 8     

External Ids:    HGNC: 48051   Entrez Gene: 30292   Ensembl: ENSG000000638547   OMIM: 1387605   UniProtKB: Q167753   

Export aliases for HAGH gene to outside databases

Previous GC identifers: GC16M001876 GC16M001797 GC16M001799


(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 HAGH Gene:
The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of
S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Oct 2013)

GeneCards Summary for HAGH Gene:
HAGH (hydroxyacylglutathione hydrolase) is a protein-coding gene. Diseases associated with HAGH include thrombocytosis, and familial mediterranean fever. GO annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is PNKD.

UniProtKB/Swiss-Prot: GLO2_HUMAN, Q16775
Function: Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic
acid

Gene Wiki entry for HAGH Gene


(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:
NC_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAGH gene promoter:
         HOXA9B   HOXA9   HEN1   p53   HFH-1   XBP-1   MRF-2   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAGH promoter sequence
   Search Chromatin IP Primers for HAGH

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


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001845:  view genomic region     (about GC identifiers)

Start:
1,845,621 bp from pter      End:
1,877,195 bp from pter
Size:
31,575 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, 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., 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: GLO2_HUMAN, Q16775 (See protein sequence)
Recommended Name: Hydroxyacylglutathione hydrolase, mitochondrial precursor  
Size: 308 amino acids; 33806 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Monomer
Caution: Only one single gene encoding glyoxalase II has been identified in vertebrates. In yeast and higher
plants, separate genes encode the cytosolic and mitochondrial forms of glyoxalase II
Sequence caution: Sequence=AAH00840.1; Type=Erroneous initiation; Sequence=CAA62483.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for HAGH:
1QH3 (3D)        1QH5 (3D)        2F50 (3D)    
Secondary accessions: A8K290 B4DRA7
Alternative splicing, Alternative initiation: 2 isoforms:  Q16775-1   Q16775-2   (Produced by alternative splicing. Also produced by alternative initiation at Met-49 of isoform 1)

Explore the universe of human proteins at neXtProt for HAGH: NX_Q16775

Explore proteomics data for HAGH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HAGH (Q16775) (see all 6)
     PSTLAEE  VFTGDTL  VDPVQPQKV  THLSTLQVGSL 


    See HAGH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035517.1  NP_001273178.1  NP_005317.2  

    ENSEMBL proteins: 
     ENSP00000455355   ENSP00000457986   ENSP00000406552   ENSP00000380514   ENSP00000380511  
     ENSP00000455422   ENSP00000455970  

    HAGH Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001279 Beta-lactamas-like
     IPR017782 Hydroxyacylglutathione_Hdrlase

    Graphical View of Domain Structure for InterPro Entry Q16775

    ProtoNet protein and cluster: Q16775

    UniProtKB/Swiss-Prot: GLO2_HUMAN, Q16775
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    HAGH 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLO2_HUMAN, Q16775
    Function: Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic
    acid
    Catalytic activity: S-(2-hydroxyacyl)glutathione + H(2)O = glutathione + a 2-hydroxy carboxylate

         Genatlas biochemistry entry for HAGH:
    hydroxyacyl glutathione hydrolase

         Enzyme Number (IUBMB): EC 3.1.2.61 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004416hydroxyacylglutathione hydrolase activity IDA8550579
    GO:0008270zinc ion binding IEA--
    GO:0016787hydrolase activity ----
         
    HAGH for ontologies           About GeneDecksing


    Animal Models:
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    Block miRNA regulation of human, mouse, rat HAGH using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HAGH:
    hsa-miR-586 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidHAGH 3' UTR sequence
    Inhib. RNA
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    (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
    GLO2_HUMAN, Q16775: Isoform 1: Mitochondrion matrix
    GLO2_HUMAN, Q16775: Isoform 2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15117945
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix IEA--

    HAGH for ontologies           About GeneDecksing


    (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 HAGH About    
    See pathways by source

    SuperPathContained pathways About
    1Pyruvate metabolism
    Pyruvate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for HAGH):
        Pyruvate metabolism

    UniProtKB/Swiss-Prot: GLO2_HUMAN, Q16775
    Pathway: Secondary metabolite metabolism; methylglyoxal degradation; (R)-lactate from methylglyoxal: step 2/2


    HAGH for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for HAGH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for HAGH (Q167753 ENSP000003805144) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    ISYNA1Q9NPH23, ENSP000003151474I2D: score=1 STRING: ENSP00000315147
    WDR45BQ5MNZ63I2D: score=4 
    PPA1Q151813I2D: score=2 
    AADATQ8N5Z03I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006750glutathione biosynthetic process IDA8550579

    HAGH for ontologies           About GeneDecksing



    (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 HAGH (GLO2)

    4 HMDB Compounds for HAGH    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Lactic acid(-)-Lactate (see all 35)10326-41-7--
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 32)70-18-8--
    S-Lactoylglutathione(R)-S-lactoylglutathione (see all 13)25138-66-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for HAGH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 5)70-18-8target--17139284 11018726 17016423 3955057 8589803
    S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione-- --target--17139284 17016423

    10 Novoseek inferred chemical compound relationships for HAGH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-d-lactoylglutathione 97.1 7 19062100 (1), 9486985 (1), 16803681 (1), 10508780 (1) (see all 6)
    s-p-nitrobenzoxycarbonylglutathione 95.7 3 1472100 (1), 8489699 (1), 8504817 (1)
    methylglyoxal 91.5 16 8636255 (2), 7859825 (2), 9486985 (1), 12572858 (1) (see all 12)
    trypanothione 72.5 3 16880563 (1), 14976196 (1), 18052346 (1)
    phosphoglycolate 71.5 2 1285890 (1), 2164460 (1)
    zinc 47.7 6 11847294 (2), 10438633 (1), 19413286 (1), 18533362 (1) (see all 5)
    lactate 38.9 6 9108256 (1), 9486985 (1), 14976196 (1), 10508780 (1) (see all 6)
    iron 5.31 2 19413286 (1), 11085979 (1)
    nacl 0 2 10944391 (1)
    glucose 0 2 9261170 (2)



    HAGH for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HAGH gene (3 alternative transcripts): 
    NM_001040427.1  NM_001286249.1  NM_005326.4  

    Unigene Cluster for HAGH:

    Hydroxyacylglutathione hydrolase
    Hs.157394  [show with all ESTs]
    Unigene Representative Sequence: NM_001040427
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564445 ENST00000566644 ENST00000455446 ENST00000397356(uc002cmz.3 uc002cna.3 uc010uvp.2)
    ENST00000397353 ENST00000567398 ENST00000566709 ENST00000569339 ENST00000569700(uc010bry.1)
    ENST00000567190 ENST00000564518 ENST00000565097
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    hsa-miR-586 hsa-miR-340
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK290155.1 AK298174.1 AK299173.1 AK299993.1 AK308825.1 AY576804.1 BC000840.1 BC002627.2 
    X90999.1 

    16 DOTS entries:

    DT.213917  DT.100791379  DT.112794  DT.120660260  DT.91988612  DT.40275778  DT.100836543  DT.100791383 
    DT.429235  DT.120660209  DT.40132030  DT.95338319  DT.100791375  DT.100791381  DT.100641547  DT.40276748 

    23 AceView cDNA sequences:

    AY576804 CR611189 CR620966 CR614453 BC000840 CR612350 X90999 NM_005326 
    AK054943 BX428027 BC002627 AI914267 BX412661 AI268157 AI702768 BV191510 
    BF511564 CD620252 CK824895 BV170933 AI689891 BX412125 BE719382 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HAGH (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
    SP1:                          -                       -     -     -           -                       -     -           -                     
    SP2:                                                  -     -     -           -                       -     -           -                     
    SP3:                                                  -     -     -           -                       -     -                                 
    SP4:                          -                       -     -     -           -     -                 -     -                                 
    SP5:                                                  -     -     -           -     -                                                         


    ECgene alternative splicing isoforms for HAGH

    (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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    HAGH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGGCCGTGC
    HAGH Expression
    About this image


    HAGH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Lens
    HAGH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAGH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.157394

    UniProtKB/Swiss-Prot: GLO2_HUMAN, Q16775
    Tissue specificity: Expressed in liver and kidney

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    (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 HAGH gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hagh1 , 5 hydroxyacyl glutathione hydrolase1, 5 84.09(n)1
    87.66(a)1
      17 (12.53 cM)5
    146511  NM_024284.21  NP_077246.21 
     248401435 
    chicken
    (Gallus gallus)
    Aves HAGH1 hydroxyacylglutathione hydrolase 73.99(n)
    77.03(a)
      416537  NM_001012789.2  NP_001012807.1 
    lizard
    (Anolis carolinensis)
    Reptilia HAGH6
    hydroxyacylglutathione hydrolase
    62(a)
    1 ↔ 1
    GL343263.1(1350205-1366384)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ055563.12   -- 72.38(n)    BJ055563.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa66a032 wufa66a03 76.11(n)   336977  AY398356.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43651 , 3 hydroxyacylglutathione hydrolase3
    CG43651
    58(a)3
    63.8(n)1
    59.37(a)1
      77E63
    402991  NM_141001.21  NP_649258.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.31 , 3 Metallo-beta-lactamase superfamily3
    Y17G7B.31
    47(a)3
    49.28(n)1
    48.22(a)1
      II(11988936-11991736)3
    1748391  NM_064155.41  NP_496556.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLO26
    GLO46
    Cytoplasmic glyoxalase II, catalyzes the hydrolysi...
    Mitochondrial glyoxalase II, catalyzes the hydroly...
    34(a)
    28(a)
    many ↔ many
    many ↔ many
    IV(1009010-1009834) YDR272W
    XV(407064-407921) YOR040W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLY21 GLY2 56.21(n)
    54.51(a)
      820255  NM_111922.3  NP_187696.1 
    rice
    (Oryza sativa)
    Liliopsida Os.64802 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.78(n)    AK103161.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HAGH gene
    PNKD2  ETHE12  HAGHL2  
    2 SIMAP similar genes for HAGH using alignment to 6 protein entries:     GLO2_HUMAN (see all proteins):
    HAGHL    PNKD

    HAGH 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), 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 HAGH (see all 832)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs361199921,2
    C--1793563(+) CCTTT-/GTCCTG 2 -- ds50012Minor allele frequency- G:0.00NA CSA 4
    rs16234521,2
    C,F,A--1793696(+) AGGGCA/GGTTTG 2 -- ds500122Minor allele frequency- G:0.26NA MN CSA WA EA 1993
    rs725508411,2
    F--1793731(-) TBGGCA/GGCACC 2 -- ds50015Minor allele frequency- G:0.01MN 400
    rs16235591,2
    C,A,H--1793735(+) CTGCCA/GAGTAG 2 -- ds500110Minor allele frequency- G:0.19NA WA CSA EA 371
    rs16235621,2
    C,A,H--1793738(+) CCGAGC/TAGGAG 2 -- ds500110Minor allele frequency- T:0.19NA WA CSA EA 371
    rs725472801,2
    F--1793740(-) TGCTCC/GTDCTB 2 -- ds50016Minor allele frequency- G:0.02MN WA 526
    rs725472341,2
    F--1793774(-) CTGGAG/CGCGGC 2 -- ds50015Minor allele frequency- C:0.01MN 408
    rs725472351,2
    F--1793799(-) AGGGAG/CANGTG 2 -- ds50016Minor allele frequency- C:0.01MN WA 526
    rs16243871,2
    C,F,A,H--1793818(+) CCTGAA/GCAGAT 2 -- ds500134Minor allele frequency- G:0.27NS EA NA MN WA CSA 3843
    rs1509801741,2
    --1793826(+) GATCAC/GACCAC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HAGH (1845621 - 1877195 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HAGH (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    dgv2539n71CNV Loss21882294
    nsv905017CNV Loss21882294
    nsv457337CNV Loss19166990
    nsv905034CNV Loss21882294
    dgv2542n71CNV Loss21882294
    nsv518641CNV Loss19592680
    nsv905042CNV Loss21882294
    dgv2540n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HAGH
    DNA2.0 Custom Variant and Variant Library Synthesis for HAGH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138760   
    OMIM disorders: 614033  
    14 diseases for HAGH:    
    About MalaCards
    thrombocytosis    familial mediterranean fever    bladder carcinoma    hyperglycemia
    muscular dystrophy    hepatitis b    alzheimer's disease    hepatitis
    prostate cancer    prostatitis    endotheliitis    malaria
    breast cancer    cerebritis


    HAGH for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for HAGH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kidney tumor 40 1 7585456 (1)
    breast carcinoma 3.93 1 11368412 (1)
    tumors 0 1 7585456 (1)
    cancer 0 2 1459997 (1), 8035422 (1)

    Genetic Association Database (GAD): HAGH
    Human Genome Epidemiology (HuGE) Navigator: HAGH (2 documents)

    Export disorders for HAGH 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 HAGH gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with HAGH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II. (PubMed id 15117945)1, 2, 9 Cordell P.A.... Pease R.J. (J. Biol. Chem. 2004)
    2. Molecular cloning, heterologous expression, and characterization of human glyoxalase II. (PubMed id 8550579)1, 2, 9 Ridderstroem M....Mannervik B. (J. Biol. Chem. 1996)
    3. Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue. (PubMed id 10508780)1, 2, 9 Cameron A.D.... Mannervik B. (Structure 1999)
    4. 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)
    5. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    8. New regional localisations for HAGH and PGP on human chromosome 16. (PubMed id 3025077)1, 3 Mulley J.C. and Callen D.F. (Hum. Genet. 1986)
    9. Assignment of the glyoxalase II gene (HAGH) to human chromosome 16. (PubMed id 7327557)1, 3 Honey N.K. and Shows T.B. (Hum. Genet. 1981)
    10. Human glyoxalase II contains an Fe(II)Zn(II) center but is active as a mononuclear Zn(II) enzyme. (PubMed id 19413286)1, 9 Limphong P....Crowder M.W. (Biochemistry 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3029 HGNC: 4805 AceView: HAGH Ensembl:ENSG00000063854 euGenes: HUgn3029
    ECgene: HAGH Kegg: 3029 H-InvDB: HAGH

    (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 HAGH 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 HAGH gene:
    Search GeneIP for patents involving HAGH

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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