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Aliases for HAO2 Gene

Aliases for HAO2 Gene

  • Hydroxyacid Oxidase 2 (Long Chain) 2 3
  • Long-Chain L-2-Hydroxy Acid Oxidase 2 3 4
  • HAOX2 3 4 6
  • (S)-2-Hydroxy-Acid Oxidase, Peroxisomal 3 4
  • Cell Growth-Inhibiting Gene 16 Protein 3 4
  • Long Chain Alpha-Hydroxy Acid Oxidase 3 4
  • Glycolate Oxidase 2 3
  • Growth-Inhibiting Protein 16 2
  • (S)-2-Hydroxy-Acid Oxidase 2
  • Hydroxyacid Oxidase 2 3
  • EC 1.1.3.15 4
  • GIG16 3

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 (Long Chain)) is a Protein Coding gene. Diseases associated with HAO2 include primary hyperoxaluria. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include receptor binding and (S)-2-hydroxy-acid oxidase activity. An important paralog of this gene is HAO1.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAO2 Gene

Genomics for HAO2 Gene

Regulatory Elements for HAO2 Gene

Genomic Location for HAO2 Gene

Start:
119,368,776 bp from pter
End:
119,394,130 bp from pter
Size:
25,355 bases
Orientation:
Plus strand

Genomic View for HAO2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HAO2 Gene at MOPED

Post-translational modifications for HAO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAO2 Gene

No data available for DME Specific Peptides for HAO2 Gene

Domains for HAO2 Gene

Suggested Antigen Peptide Sequences for HAO2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYQ3

UniProtKB/Swiss-Prot:

HAOX2_HUMAN :
  • Q9NYQ3
Domain:
  • Contains 1 FMN hydroxy acid dehydrogenase domain.
Family:
  • Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family.
genes like me logo Genes that share domains with HAO2: view

No data available for Gene Families for HAO2 Gene

Function for HAO2 Gene

Molecular function for HAO2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (S)-2-hydroxy acid + O(2) = 2-oxo acid + H(2)O(2)
UniProtKB/Swiss-Prot Function: Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids

Enzyme Numbers (IUBMB) for HAO2 Gene

Gene Ontology (GO) - Molecular Function for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003973 (S)-2-hydroxy-acid oxidase activity IDA 10777549
GO:0005102 receptor binding IPI 20178365
GO:0010181 FMN binding IEA --
GO:0015930 glutamate synthase activity --
genes like me logo Genes that share ontologies with HAO2: view

Phenotypes for HAO2 Gene

GenomeRNAi human phenotypes for HAO2:
genes like me logo Genes that share phenotypes with HAO2: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HAO2 Gene

Localization for HAO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAO2 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAO2 Gene COMPARTMENTS Subcellular localization image for HAO2 gene
Compartment Confidence
peroxisome 5
chloroplast 2
cytoskeleton 2
mitochondrion 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 10777549
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HAO2: view

Pathways for HAO2 Gene

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

Pathways by source for HAO2 Gene

Interacting Proteins for HAO2 Gene

Gene Ontology (GO) - Biological Process for HAO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006537 glutamate biosynthetic process --
GO:0018924 mandelate metabolic process IEA --
GO:0019395 fatty acid oxidation IDA 10777549
GO:0051260 protein homooligomerization IEA --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with HAO2: view

Compounds for HAO2 Gene

(5) HMDB Compounds for HAO2 Gene

Compound Synonyms Cas Number PubMed IDs
Flavin Mononucleotide
  • FMN
146-17-8
Glycolic acid
  • 2-Hydroxyacetate
79-14-1
Glyoxylic acid
  • Formylformate
298-12-4
Hydrogen peroxide
  • Hydrogen peroxide
7722-84-1
Oxygen
  • Oxygen
7782-44-7

(1) Drugbank Compounds for HAO2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Riboflavin Monophosphate
146-17-8 target
genes like me logo Genes that share compounds with HAO2: view

Transcripts for HAO2 Gene

Unigene Clusters for HAO2 Gene

Hydroxyacid oxidase 2 (long chain):
Representative Sequences:

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
ECgene alternative splicing isoforms for
HAO2

Expression for HAO2 Gene

mRNA expression in normal human tissues 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 (37.8) and Kidney - Cortex (13.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HAO2 Gene

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

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 35
  • 99.72 (n)
  • 99.71 (a)
HAO2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAO2 35
  • 82.72 (n)
  • 81.77 (a)
HAO2 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAO2 35
  • 85.75 (n)
  • 82.34 (a)
HAO2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hao2 35
  • 78.63 (n)
  • 71.23 (a)
Hao2 16
Hao2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAO2 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hao2 35
  • 79.87 (n)
  • 74.07 (a)
chicken
(Gallus gallus)
Aves HAO2 35
  • 63.72 (n)
  • 60.11 (a)
HAO2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAO2 36
  • 56 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398510 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hao2 35
  • 63.72 (n)
  • 63.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.904 35
zebrafish
(Danio rerio)
Actinopterygii hao2 35
  • 63.31 (n)
  • 62.36 (a)
hao2 36
  • 57 (a)
OneToOne
zgc63690 35
fruit fly
(Drosophila melanogaster)
Insecta CG18003 36
  • 40 (a)
OneToMany
CG18003 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea F41E6.5 36
  • 39 (a)
OneToMany
F41E6.5 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB2 35
  • 48.84 (n)
  • 40.41 (a)
CYB2 36
  • 23 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02640g 35
  • 50.87 (n)
  • 41.04 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2092 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G14150 35
  • 51.9 (n)
  • 48.98 (a)
rice
(Oryza sativa)
Liliopsida Os07g0616500 35
  • 51.17 (n)
  • 47.37 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08272 35
  • 49.85 (n)
  • 39.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7836 36
  • 52 (a)
ManyToMany
Species with no ortholog for HAO2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HAO2 Gene

Paralogs for HAO2 Gene

Selected SIMAP similar genes for HAO2 Gene using alignment to 3 proteins:

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

Variants for HAO2 Gene

Sequence variations from dbSNP and Humsavar for HAO2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1341007 -- 119,382,780(-) GTTCA(A/G)TTGGC intron-variant
rs1417604 -- 119,385,760(-) CACAG(C/T)TGCCC intron-variant, utr-variant-3-prime
rs2182243 -- 119,389,507(-) aatta(C/G)aatgc intron-variant
rs2224995 -- 119,380,908(-) AGAAG(G/T)CAGAG intron-variant
rs2275607 -- 119,381,101(+) TGTGT(C/G/T)TGACA synonymous-codon, missense, reference

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

Variant ID Type Subtype PubMed ID
nsv524681 CNV Gain 19592680
esv34089 CNV Loss 18971310
esv1759268 CNV Insertion 17803354
nsv2599 CNV Loss 18451855

Relevant External Links for HAO2 Gene

HapMap Linkage Disequilibrium report
HAO2
Locus Specific Mutation Databases (LSDB)
HAO2

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

Disorders for HAO2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for HAO2 Gene including...

Search for HAO2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for HAO2 Gene

Relevant External Links for HAO2

Genetic Association Database (GAD)
HAO2
Human Genome Epidemiology (HuGE) Navigator
HAO2
genes like me logo Genes that share disorders with HAO2: view

No data available for UniProtKB/Swiss-Prot 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 J.M. … Gould S.J. (J. Biol. Chem. 2000) 2 3 4 23
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 48
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for HAO2 Gene

Sources for HAO2 Gene

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