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] See more...

Aliases for HAGH Gene

Aliases for HAGH Gene

  • Hydroxyacylglutathione Hydrolase 2 3 5
  • Hydroxyacylglutathione Hydrolase, Mitochondrial 3 4
  • Glyoxalase II 3 4
  • EC 3.1.2.6 4 52
  • HAGH1 3 4
  • GLO2 3 4
  • Hydroxyacylglutathione Hydroxylase 3
  • Hydroxyacyl Glutathione Hydrolase 2
  • Glx II 4
  • GLXII 3
  • GLX2 3

External Ids for HAGH Gene

Previous GeneCards Identifiers for HAGH Gene

  • GC16M001876
  • GC16M001797
  • GC16M001799
  • GC16M001845

Summaries for HAGH Gene

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 Hydroxyacyl Glutathione Hydrolase Deficiency and Encephalopathy, Ethylmalonic. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Metabolism. Gene Ontology (GO) annotations related to this gene include hydroxyacylglutathione hydrolase activity. An important paralog of this gene is HAGHL.

UniProtKB/Swiss-Prot Summary for HAGH Gene

  • Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.

Gene Wiki entry for HAGH Gene

Additional gene information for HAGH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAGH Gene

Genomics for HAGH Gene

GeneHancer (GH) Regulatory Elements for HAGH Gene

Promoters and enhancers for HAGH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAGH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAGH

Top Transcription factor binding sites by QIAGEN in the HAGH gene promoter:
  • HEN1
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • MRF-2
  • p53
  • XBP-1

Genomic Locations for HAGH Gene

Genomic Locations for HAGH Gene
chr16:1,795,620-1,827,194
(GRCh38/hg38)
Size:
31,575 bases
Orientation:
Minus strand
chr16:1,845,621-1,877,195
(GRCh37/hg19)
Size:
31,575 bases
Orientation:
Minus strand

Genomic View for HAGH Gene

Genes around HAGH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAGH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAGH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAGH Gene

Proteins for HAGH Gene

  • Protein details for HAGH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16775-GLO2_HUMAN
    Recommended name:
    Hydroxyacylglutathione hydrolase, mitochondrial
    Protein Accession:
    Q16775
    Secondary Accessions:
    • A8K290
    • B4DP33
    • B4DRA7
    • E7EN93

    Protein attributes for HAGH Gene

    Size:
    308 amino acids
    Molecular mass:
    33806 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • [Isoform 2]: Produced by alternative splicing. Also produced by alternative initiation at Met-49 of isoform 1.
    SequenceCaution:
    • Sequence=AAH00840.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA62483.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HAGH Gene

    Alternative splice isoforms for HAGH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAGH Gene

Selected DME Specific Peptides for HAGH Gene

Q16775:
  • GLKVYGGDDRIG
  • VFTGDTL
  • VDPVQPQKV
  • VLTTHHHWDHAGGNEK
  • PSTLAEE
  • THLSTLQVGSL

Post-translational modifications for HAGH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HAGH Gene

Gene Families for HAGH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HAGH Gene

GenScript: Design optimal peptide antigens:
  • Glyoxalase II (GLO2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16775

UniProtKB/Swiss-Prot:

GLO2_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with HAGH: view

Function for HAGH Gene

Molecular function for HAGH Gene

UniProtKB/Swiss-Prot Function:
Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an S-(2-hydroxyacyl)glutathione + H2O = a 2-hydroxy carboxylate + glutathione + H(+); Xref=Rhea:RHEA:21864, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57925, ChEBI:CHEBI:58896, ChEBI:CHEBI:71261; EC=3.1.2.6;.
GENATLAS Biochemistry:
hydroxyacyl glutathione hydrolase

Enzyme Numbers (IUBMB) for HAGH Gene

Phenotypes From GWAS Catalog for HAGH Gene

Gene Ontology (GO) - Molecular Function for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004416 hydroxyacylglutathione hydrolase activity IDA 8550579
GO:0005515 protein binding IPI 21044950
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HAGH: view
genes like me logo Genes that share phenotypes with HAGH: view

Animal Model Products

CRISPR Products

miRNA for HAGH Gene

miRTarBase miRNAs that target HAGH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAGH

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HAGH Gene

Localization for HAGH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAGH Gene

[Isoform 1]: Mitochondrion matrix.
[Isoform 2]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAGH gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAGH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAGH Gene

Pathways & Interactions for HAGH Gene

genes like me logo Genes that share pathways with HAGH: view

UniProtKB/Swiss-Prot Q16775-GLO2_HUMAN

  • Pathway: Secondary metabolite metabolism; methylglyoxal degradation; (R)-lactate from methylglyoxal: step 2/2.

Gene Ontology (GO) - Biological Process for HAGH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006750 glutathione biosynthetic process IDA 8550579
GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione IEA --
genes like me logo Genes that share ontologies with HAGH: view

No data available for SIGNOR curated interactions for HAGH Gene

Drugs & Compounds for HAGH Gene

(8) Drugs for HAGH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target 0
Water Approved Pharma 0
S-(N-hydroxy-N-bromophenylcarbamoyl)glutathione Experimental Pharma Target 0
D-Lactic acid Experimental Pharma Full agonist, Agonist 0

(7) Additional Compounds for HAGH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
S-Lactoylglutathione
  • S-D-Lactoylglutathione
  • (R)-S-Lactoylglutathione
  • D-Lactoylglutathione
  • delta-Lactoylglutathione
  • N-(N-L-gamma-Glutamyl-S-(2-hydroxy-1-oxopropyl)-L-cysteinyl)-glycine
25138-66-3
genes like me logo Genes that share compounds with HAGH: view

Transcripts for HAGH Gene

mRNA/cDNA for HAGH Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAGH

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAGH Gene

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: - - - - -
SP6: -
SP7: - - - -
SP8: - - -
SP9: -
SP10:

Relevant External Links for HAGH Gene

GeneLoc Exon Structure for
HAGH

Expression for HAGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAGH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HAGH Gene

This gene is overexpressed in Liver, secretome (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HAGH Gene



Protein tissue co-expression partners for HAGH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAGH

SOURCE GeneReport for Unigene cluster for HAGH Gene:

Hs.157394

mRNA Expression by UniProt/SwissProt for HAGH Gene:

Q16775-GLO2_HUMAN
Tissue specificity: Expressed in liver and kidney.

Evidence on tissue expression from TISSUES for HAGH Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Kidney(2.9)
  • Lung(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with HAGH: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HAGH Gene

Orthologs for HAGH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HAGH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAGH 31 30
  • 98.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HAGH 31 30
  • 87.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HAGH 31 30
  • 87.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hagh 17 31 30
  • 84.09 (n)
rat
(Rattus norvegicus)
Mammalia Hagh 30
  • 83.23 (n)
oppossum
(Monodelphis domestica)
Mammalia HAGH 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAGH 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAGH 31 30
  • 73.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAGH 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hagh 30
  • 70.37 (n)
Str.10314 30
zebrafish
(Danio rerio)
Actinopterygii hagh 31 30
  • 71.79 (n)
OneToOne
wufa66a03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2186 30
fruit fly
(Drosophila melanogaster)
Insecta CG4365 31 32 30
  • 63.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000416 30
  • 59.6 (n)
worm
(Caenorhabditis elegans)
Secernentea Y17G7B.3 31 32 30
  • 49.28 (n)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 31
  • 34 (a)
ManyToMany
GLO4 31
  • 28 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GLY2 30
  • 56.21 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7524 30
rice
(Oryza sativa)
Liliopsida Os03g0332400 30
  • 55.82 (n)
Os.6480 30
barley
(Hordeum vulgare)
Liliopsida Hv.2144 30
corn
(Zea mays)
Liliopsida Zm.10563 30
wheat
(Triticum aestivum)
Liliopsida Ta.7031 30
sea squirt
(Ciona savignyi)
Ascidiacea Cin.6527 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6527 30
Species where no ortholog for HAGH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HAGH Gene

ENSEMBL:
Gene Tree for HAGH (if available)
TreeFam:
Gene Tree for HAGH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAGH: view image

Paralogs for HAGH Gene

Paralogs for HAGH Gene

(2) SIMAP similar genes for HAGH Gene using alignment to 6 proteins:

  • GLO2_HUMAN
  • E7EN93_HUMAN
  • H3BPK3_HUMAN
  • H3BPQ4_HUMAN
  • H3BQW8_HUMAN
  • H3BV79_HUMAN
genes like me logo Genes that share paralogs with HAGH: view

Variants for HAGH Gene

Additional dbSNP identifiers (rs#s) for HAGH Gene

Structural Variations from Database of Genomic Variants (DGV) for HAGH Gene

Variant ID Type Subtype PubMed ID
dgv335n27 CNV gain 19166990
dgv4856n54 CNV loss 21841781
dgv4857n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1040440 CNV gain 25217958
nsv1042986 CNV loss 25217958
nsv1051692 CNV loss 25217958
nsv1070733 CNV deletion 25765185
nsv457337 CNV loss 19166990
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571172 CNV loss 21841781
nsv571175 CNV loss 21841781
nsv571177 CNV gain 21841781
nsv952900 CNV deletion 24416366

Variation tolerance for HAGH Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAGH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAGH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAGH Gene

Disorders for HAGH Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAGH Gene - From: OMIM, GTR, and DISEASES

Disorder Aliases PubMed IDs
hydroxyacyl glutathione hydrolase deficiency
  • glyoxalase ii deficiency
encephalopathy, ethylmalonic
  • ee
- elite association - COSMIC cancer census association via MalaCards
Search HAGH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAGH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HAGH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAGH Gene

Publications for HAGH Gene

  1. The Human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II. (PMID: 15117945) Cordell PA … Pease RJ (The Journal of biological chemistry 2004) 3 4 23 54
  2. Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue. (PMID: 10508780) Cameron AD … Mannervik B (Structure (London, England : 1993) 1999) 3 4 23 54
  3. Molecular cloning, heterologous expression, and characterization of human glyoxalase II. (PMID: 8550579) Ridderström M … Mannervik B (The Journal of biological chemistry 1996) 3 4 23 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Human glyoxalase II contains an Fe(II)Zn(II) center but is active as a mononuclear Zn(II) enzyme. (PMID: 19413286) Limphong P … Crowder MW (Biochemistry 2009) 3 23 54

Products for HAGH Gene

Sources for HAGH Gene