This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] See more...

Aliases for HAO2 Gene

Aliases for HAO2 Gene

  • Hydroxyacid Oxidase 2 2 3 4 5
  • Long-Chain L-2-Hydroxy Acid Oxidase 2 3 4
  • HAOX2 2 3 4
  • (S)-2-Hydroxy-Acid Oxidase, Peroxisomal 3 4
  • Cell Growth-Inhibiting Gene 16 Protein 3 4
  • Long Chain Alpha-Hydroxy Acid Oxidase 3 4
  • Hydroxyacid Oxidase 2 (Long Chain) 2 3
  • Glycolate Oxidase 2 3
  • GIG16 2 3
  • Growth-Inhibiting Protein 16 2
  • (S)-2-Hydroxy-Acid Oxidase 2
  • EC 1.1.3.15 4
  • HAO2 5

External Ids for HAO2 Gene

Previous GeneCards Identifiers for HAO2 Gene

  • GC01P120358
  • GC01P118749
  • GC01P119058
  • GC01P119257
  • GC01P119623
  • GC01P119712
  • GC01P119913
  • GC01P117769

Summaries for HAO2 Gene

Entrez Gene Summary for HAO2 Gene

  • This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for HAO2 Gene

HAO2 (Hydroxyacid Oxidase 2) is a Protein Coding gene. Diseases associated with HAO2 include Histidinemia and Histidine Metabolism Disease. Among its related pathways are Glyoxylate and dicarboxylate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and FMN binding. An important paralog of this gene is HAO1.

UniProtKB/Swiss-Prot Summary for HAO2 Gene

  • Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAO2 Gene

Genomics for HAO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J119380 Promoter 0.8 EPDnew 600.4 +18.6 18621 0.1 REST SP1 CEBPA FOXA2 ATF3 YY1 JUND RAD21 HNF4A RXRA lnc-WARS2-6 HAO2 piR-43106-011 HSD3B2
GH01J119368 Promoter 0.7 EPDnew 600.4 +6.9 6877 0.1 SP1 ZNF316 MAFF MAFK JUND MAFG RAD21 HNF4A RXRA HNF4G HAO2-IT1 HAO2 lnc-WARS2-6 HSD3B2
GH01J119365 Enhancer 0.3 Ensembl 600.7 +1.4 1388 0.2 GATAD2A TFAP4 HAO2 HAO2-IT1 lnc-WARS2-6 HSD3B2
GH01J119327 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10.9 -34.5 -34534 1.6 CTCF PRDM10 ZNF629 ZNF692 ZIC2 ZSCAN4 RBFOX2 PATZ1 SP1 ZNF501 ENSG00000227712 LINC01780 WARS2-AS1 HAO2 HAO2-IT1 lnc-HAO2-11 WARS2
GH01J119339 Enhancer 1.1 Ensembl ENCODE 12.3 -20.2 -20228 3.8 GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 SP1 HAO2 HAO2-IT1 lnc-WARS2-5 piR-31470-028 LINC01780 WARS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAO2

Top Transcription factor binding sites by QIAGEN in the HAO2 gene promoter:
  • AML1a
  • ARP-1
  • C/EBPalpha
  • C/EBPbeta
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)

Genomic Locations for HAO2 Gene

Genomic Locations for HAO2 Gene
chr1:119,361,913-119,394,130
(GRCh38/hg38)
Size:
32,218 bases
Orientation:
Plus strand
chr1:119,911,402-119,936,753
(GRCh37/hg19)
Size:
25,352 bases
Orientation:
Plus strand

Genomic View for HAO2 Gene

Genes around HAO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAO2 Gene

Proteins for HAO2 Gene

  • Protein details for HAO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYQ3-HAOX2_HUMAN
    Recommended name:
    Hydroxyacid oxidase 2
    Protein Accession:
    Q9NYQ3
    Secondary Accessions:
    • Q2TU86
    • Q5QP00
    • Q9UJS6

    Protein attributes for HAO2 Gene

    Size:
    351 amino acids
    Molecular mass:
    38839 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Homotetramer or homooctamer.

    Alternative splice isoforms for HAO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAO2 Gene

Post-translational modifications for HAO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HAO2 Gene

Domains & Families for HAO2 Gene

Gene Families for HAO2 Gene

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

Protein Domains for HAO2 Gene

InterPro:
Blocks:
  • FMN-dependent alpha-hydroxy acid dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for HAO2 Gene

GenScript: Design optimal peptide antigens:
  • Long-chain L-2-hydroxy acid oxidase (HAOX2_HUMAN)
  • cDNA FLJ60761, highly similar to Hydroxyacid oxidase 2 (EC 1.1.3.15) (Q5QP00_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYQ3

UniProtKB/Swiss-Prot:

HAOX2_HUMAN :
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
genes like me logo Genes that share domains with HAO2: view

Function for HAO2 Gene

Molecular function for HAO2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (2S)-2-hydroxycarboxylate + O2 = a 2-oxocarboxylate + H2O2; Xref=Rhea:RHEA:16789, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:35179, ChEBI:CHEBI:58123; EC=1.1.3.15;.

Enzyme Numbers (IUBMB) for HAO2 Gene

Phenotypes From GWAS Catalog for HAO2 Gene

Gene Ontology (GO) - Molecular Function for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003973 (S)-2-hydroxy-acid oxidase activity IEA,IDA 10777549
GO:0004459 L-lactate dehydrogenase activity IBA --
GO:0010181 FMN binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HAO2: view
genes like me logo Genes that share phenotypes with HAO2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAO2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HAO2 Gene

Localization for HAO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAO2 Gene

Peroxisome.

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 HAO2 gene
Compartment Confidence
peroxisome 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 10777549
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAO2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAO2 Gene

Pathways & Interactions for HAO2 Gene

genes like me logo Genes that share pathways with HAO2: view

Gene Ontology (GO) - Biological Process for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0009062 fatty acid catabolic process TAS --
GO:0019395 fatty acid oxidation IDA 10777549
GO:0019516 lactate oxidation IBA --
GO:0035499 carnosine biosynthetic process IBA --
genes like me logo Genes that share ontologies with HAO2: view

No data available for SIGNOR curated interactions for HAO2 Gene

Drugs & Compounds for HAO2 Gene

(5) Drugs for HAO2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Approved, Investigational Pharma Target 12
Glycolic acid Approved, Investigational Pharma 31
Hydrogen peroxide Approved, Vet_approved Pharma 115
Oxygen Approved, Vet_approved Pharma 0
Glyoxylic acid Experimental Pharma 0
genes like me logo Genes that share compounds with HAO2: view

Transcripts for HAO2 Gene

mRNA/cDNA for HAO2 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 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 HAO2

Alternative Splicing Database (ASD) splice patterns (SP) for HAO2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for HAO2 Gene

GeneLoc Exon Structure for
HAO2

Expression for HAO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAO2 Gene

This gene is overexpressed in Liver (x37.8) and Kidney - Cortex (x13.1).

Protein differential expression in normal tissues from HIPED for HAO2 Gene

This gene is overexpressed in Lung (28.0), Kidney (24.9), and Liver (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAO2 Gene



Protein tissue co-expression partners for HAO2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAO2

SOURCE GeneReport for Unigene cluster for HAO2 Gene:

Hs.659767

mRNA Expression by UniProt/SwissProt for HAO2 Gene:

Q9NYQ3-HAOX2_HUMAN
Tissue specificity: Liver and kidney.

Evidence on tissue expression from TISSUES for HAO2 Gene

  • Liver(4.7)
  • Kidney(4.6)
genes like me logo Genes that share expression patterns with HAO2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAO2 Gene

Orthologs for HAO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HAO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HAO2 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HAO2 30 31
  • 85.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAO2 30 31
  • 82.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hao2 30
  • 79.87 (n)
Mouse
(Mus musculus)
Mammalia Hao2 30 17 31
  • 78.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HAO2 31
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HAO2 30 31
  • 63.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HAO2 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hao2 30
  • 63.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398510 30
Zebrafish
(Danio rerio)
Actinopterygii hao2 30 31
  • 63.31 (n)
OneToOne
zgc63690 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.904 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG18003 31 32
  • 40 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F41E6.5 31 32
  • 39 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02640g 30
  • 50.87 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 30 31
  • 48.84 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G14150 30
  • 51.9 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2092 30
Rice
(Oryza sativa)
Liliopsida Os07g0616500 30
  • 51.17 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7836 31
  • 52 (a)
ManyToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU08272 30
  • 49.85 (n)
Species where no ortholog for HAO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for HAO2 Gene

ENSEMBL:
Gene Tree for HAO2 (if available)
TreeFam:
Gene Tree for HAO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAO2: view image

Paralogs for HAO2 Gene

Paralogs for HAO2 Gene

(1) SIMAP similar genes for HAO2 Gene using alignment to 3 proteins:

  • HAOX2_HUMAN
  • Q5QP00_HUMAN
  • Q5QP02_HUMAN
genes like me logo Genes that share paralogs with HAO2: view

Variants for HAO2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAO2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34638261 - p.Glu15Lys
rs6661625 - p.Leu221Met

Additional dbSNP identifiers (rs#s) for HAO2 Gene

Structural Variations from Database of Genomic Variants (DGV) for HAO2 Gene

Variant ID Type Subtype PubMed ID
esv1759268 CNV insertion 17803354
esv2761649 CNV gain 21179565
esv2763647 CNV gain+loss 21179565
esv34089 CNV loss 18971310
nsv1004662 CNV gain 25217958
nsv2599 CNV deletion 18451855
nsv524681 CNV gain 19592680

Variation tolerance for HAO2 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 24.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAO2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAO2 Gene

Disorders for HAO2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAO2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
histidinemia
  • histidine ammonia-lyase deficiency
histidine metabolism disease
  • disturbances of histidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search HAO2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HAO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAO2 Gene

Publications for HAO2 Gene

  1. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. (PMID: 10777549) Jones JM … Gould SJ (The Journal of biological chemistry 2000) 2 3 4 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for HAO2 Gene

  • Signalway Proteins for HAO2

Sources for HAO2 Gene