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HAAO Gene

protein-coding   GIFtS: 63
GCID: GC02M042994

3-Hydroxyanthranilate 3,4-Dioxygenase

  See HAAO-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
3-Hydroxyanthranilate 3,4-Dioxygenase1 2     HAD2 3
3-HAO2 3     EC 1.13.11.63 8
3-Hydroxyanthranilate Oxygenase2 3     HAO2
3-Hydroxyanthranilic Acid Dioxygenase2 3     

External Ids:    HGNC: 47961   Entrez Gene: 234982   Ensembl: ENSG000001628827   OMIM: 6045215   UniProtKB: P469523   

Export aliases for HAAO gene to outside databases

Previous GC identifers: GC02M042982 GC02M043162 GC02M042968 GC02M042905 GC02M042847 GC02M042728


(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 HAAO Gene:
3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular
dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and
kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of
quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its
ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate
in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders
associated with altered tissue levels of QUIN. (provided by RefSeq, Jul 2008)

GeneCards Summary for HAAO Gene:
HAAO (3-hydroxyanthranilate 3,4-dioxygenase) is a protein-coding gene. Diseases associated with HAAO include pellagra, and olivopontocerebellar atrophy. GO annotations related to this gene include electron carrier activity and ferrous iron binding.

UniProtKB/Swiss-Prot: 3HAO_HUMAN, P46952
Function: Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde,
which spontaneously cyclizes to quinolinate




(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 at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAAO gene promoter:
         PPAR-gamma1   HTF   FOXD3   SEF-1 (1)   PPAR-gamma2   Pax-4a   E4BP4   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAAO promoter sequence
   Search Chromatin IP Primers for HAAO

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


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M042994:  view genomic region     (about GC identifiers)

Start:
42,994,229 bp from pter      End:
43,019,751 bp from pter
Size:
25,523 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 3HAO_HUMAN, P46952 (See protein sequence)
Recommended Name: 3-hydroxyanthranilate 3,4-dioxygenase  
Size: 286 amino acids; 32556 Da
Cofactor: Fe(2+) ion
Subunit: Monomer
1 PDB 3D structure from and Proteopedia for HAAO:
2QNK (3D)    
Secondary accessions: A6NE56 B4DIN2 Q53QZ7 Q8N6N9
Alternative splicing: 2 isoforms:  P46952-1   P46952-2   

Explore the universe of human proteins at neXtProt for HAAO: NX_P46952

Explore proteomics data for HAAO at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for HAAO (P46952)
     VPHSPQR  PPVCNKL  RKDYHIEEGEE 


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

    REFSEQ proteins: NP_036337.2  
    ENSEMBL proteins: 
     ENSP00000294973   ENSP00000412601  
    Reactome Protein details: P46952

    HAAO Human Recombinant Protein Products:

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    HAAO Assay Products:

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    Search eBioscience for ELISAs for HAAO 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011051 RmlC_Cupin
     IPR016700 3hydroanth_dOase_met
     IPR010329 3hydroanth_dOase
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry P46952

    ProtoNet protein and cluster: P46952

    UniProtKB/Swiss-Prot: 3HAO_HUMAN, P46952
    Similarity: Belongs to the 3-HAO family


    Find genes that share domains with HAAO           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 3HAO_HUMAN, P46952
    Function: Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde,
    which spontaneously cyclizes to quinolinate
    Catalytic activity: 3-hydroxyanthranilate + O(2) = 2-amino-3-carboxymuconate semialdehyde

         Enzyme Number (IUBMB): EC 1.13.11.61 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00003343-hydroxyanthranilate 3,4-dioxygenase activity TAS--
    GO:0005506iron ion binding ----
    GO:0008198ferrous iron binding IDA12007609
    GO:0009055electron carrier activity NAS7514594
    GO:0019825oxygen binding IEA--
         
    Find genes that share ontologies with HAAO           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HAAO:
     Elongated cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAAO
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAAO
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    miRNA
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    Block miRNA regulation of human, mouse, rat HAAO using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate HAAO:
    hsa-miR-647
    SwitchGear 3'UTR luciferase reporter plasmidHAAO 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HAAO
    Predesigned siRNA for gene silencing in human, mouse, rat HAAO

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    Sino Biological Human cDNA Clone for HAAO
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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
    3HAO_HUMAN, P46952: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion2
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0031966mitochondrial membrane IEA--

    Find genes that share ontologies with HAAO           About GenesLikeMe


    (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 HAAO About    
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan catabolism0.00
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    tryptophan degradation via kynurenine0.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    NAD de novo biosynthesis0.00
    tryptophan utilization I0.71
    tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde0.00
    tryptophan degradation0.00
    5Nicotinate and nicotinamide metabolism
    NAD metabolism0.43


    Find genes that share SuperPaths with HAAO           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for HAAO
        NAD metabolism

    Selected BioSystems Pathways for HAAO (see all 7)
        NAD de novo biosynthesis
    tryptophan degradation via kynurenine
    tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    Tryptophan metabolism
    tryptophan degradation


    1 Reactome Pathway for HAAO
        Tryptophan catabolism


    2 Kegg Pathways  (Kegg details for HAAO):
        Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: 3HAO_HUMAN, P46952
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HAAO: 

              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HAAO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for HAAO (P469522, 3 ENSP000002949734) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGDIAP525652, 3, ENSP000002693214MINT-8257999 I2D: score=2 STRING: ENSP00000269321
    ATXN3P542523, ENSP000003523244I2D: score=1 STRING: ENSP00000352324
    RAD1O606713, ENSP000003408794I2D: score=1 STRING: ENSP00000340879
    WIPI1Q5MNZ93, ENSP000002621394I2D: score=1 STRING: ENSP00000262139
    GAD1Q992593, ENSP000003509284I2D: score=4 STRING: ENSP00000350928
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006569tryptophan catabolic process TAS--
    GO:0009435NAD biosynthetic process IEA--
    GO:0010043response to zinc ion IDA12007609
    GO:0019805quinolinate biosynthetic process NAS12007609
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with HAAO           About GenesLikeMe



    (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 HAAO (3HAO)

    4 HMDB Compounds for HAAO    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Amino-3-carboxymuconic acid semialdehydeACS (see all 9)16597-58-3--
    3-Hydroxyanthranilic acid2-Amino-3-hydroxybenzoate (see all 17)548-93-6--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--

    7 Novoseek inferred chemical compound relationships for HAAO gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-hydroxyanthranilic acid 95 24 9539135 (4), 16522801 (3), 12007609 (2), 7514594 (2) (see all 10)
    quinolinic acid 80 7 12007609 (2), 1825460 (2), 9685612 (1), 1831362 (1) (see all 5)
    kynurenine 74.2 4 16522801 (1), 8906308 (1), 9539135 (1)
    hydroxylamine 71.7 6 15697211 (1), 18761666 (1), 18973625 (1), 2338066 (1) (see all 5)
    quinine 62.8 6 9685612 (1), 7514594 (1)
    hydrazine 50 3 18761666 (1), 18973625 (1)
    polyacrylamide 25.1 1 2338066 (1)



    Find genes that share compounds with HAAO           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HAAO gene: 
    NM_012205.2  

    Unigene Cluster for HAAO:

    3-hydroxyanthranilate 3,4-dioxygenase
    Hs.368805  [show with all ESTs]
    Unigene Representative Sequence: NM_012205
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406007 ENST00000294973(uc002rst.4) ENST00000402698 ENST00000404451
    ENST00000431905 ENST00000406924(uc010ynw.1) ENST00000402268
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate HAAO:
    hsa-miR-647
    SwitchGear 3'UTR luciferase reporter plasmidHAAO 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat HAAO

    Additional mRNA sequence: 

    AK295693.1 BC029510.1 CR457063.1 Z29481.1 

    5 DOTS entries:

    DT.212090  DT.102823242  DT.99976662  DT.100751508  DT.95159385 

    Selected AceView cDNA sequences (see all 51):

    CR624693 AW615072 CB850657 BF514377 BM906893 BI908552 Z29481 AI005031 
    AI341625 BI602406 BQ719546 BU732656 BU859616 BI768871 BX105135 CR457063 
    AI354294 AL554133 BC029510 NM_012205 R79003 AU098729 AV697461 AW001298 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HAAO    About this scheme

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


    ECgene alternative splicing isoforms for HAAO

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

    HAAO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAAO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368805
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HAAO: 
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HAAO
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAAO

    (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 animals and fungi.

    Orthologs for HAAO gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Haao1 , 5 3-hydroxyanthranilate 3,4-dioxygenase1, 5 85.33(n)1
    85.92(a)1
      17 (54.85 cM)5
    1077661  NM_025325.21  NP_079601.11 
     838313565 
    chicken
    (Gallus gallus)
    Aves HAAO1 3-hydroxyanthranilate 3,4-dioxygenase 61.03(n)
    63.03(a)
      421396  XM_419453.4  XP_419453.3 
    lizard
    (Anolis carolinensis)
    Reptilia HAAO6
    3-hydroxyanthranilate 3,4-dioxygenase
    60(a)
    1 ↔ 1
    GL343231.1(500679-521163)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686442 hypothetical protein MGC68644 76.85(n)    BC061663.1 
    zebrafish
    (Danio rerio)
    Actinopterygii haao1 3-hydroxyanthranilate 3,4-dioxygenase 57.11(n)
    55.56(a)
      492518  NM_001007390.1  NP_001007391.1 
    worm
    (Caenorhabditis elegans)
    Secernentea haao-11 haao-1 48.05(n)
    40(a)
      179329  NM_073049.1  NP_505450.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BNA1(YJR025C)4
    BNA11
    3-hydroxyanthranilic acid dioxygenase, required for more4
    BNA11
    46.93(n)1
    42.76(a)1
      10(471671-471138)4
    8534821, 4  NP_012559.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 HAAO (see all 740)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49536571,2
    C,A--42993782(+) TGAAAC/TCCCCA 1 -- ds500110Minor allele frequency- T:0.22NA WA CSA EA 371
    rs1406759621,2
    --42993953(+) GATCCA/TGTTTC 1 -- ds50010--------
    rs728688341,2
    C--42993994(+) GAGAAC/TAGAGA 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs621454831,2
    C,F--42994024(+) TTAGCC/TGTGCT 1 -- ds50012Minor allele frequency- T:0.08NA 122
    rs1155784401,2
    C,F--42994034(+) TCCCAG/AGACCA 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1851808561,2
    --42994113(+) AATAAC/GAGACC 1 -- ds50010--------
    rs1893926891,2
    --42994159(+) CCCCAG/TACACA 1 -- ds50010--------
    rs1818329681,2
    --42994212(+) GCCTGC/TGGCAG 1 -- ds50010--------
    rs23046591,2
    C,F,H--42994369(+) GTCTGC/TCAGAG 1 -- ut31 ese311Minor allele frequency- T:0.04EA NA NS 2380
    rs23046601,2
    C--42994395(+) TGCCCA/GCCCAG 1 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for HAAO (42994229 - 43019751 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HAAO:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519877CNV Loss19592680
    nsv457152CNV Loss19166990
    nsv817795CNV Gain17921354

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604521    OMIM disorders: --

    2 diseases for HAAO:    
    About MalaCards
    pellagra    olivopontocerebellar atrophy

    1 disease from the University of Copenhagen DISEASES database for HAAO:
    Pellagra

    Find genes that share disorders with HAAO           About GenesLikeMe

    Genetic Association Database (GAD): HAAO
    Human Genome Epidemiology (HuGE) Navigator: HAAO (3 documents)

    Export disorders for HAAO 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 HAAO gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with HAAO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of human 3- hydroxyanthranilic-acid dioxygenase. (PubMed id 7514594)1, 2, 3, 9 Malherbe P.... Cesura A.M. (J. Biol. Chem. 1994)
    2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1, 4 Dick D.M....Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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)
    6. Cloning of human 3-hydroxyanthranilic acid dioxygenase in Escherichia coli: characterisation of the purified enzyme and its in vitro inhibition by Zn2+. (PubMed id 12007609)1, 9 Calderone V....Zanotti G. (Biochim. Biophys. Acta 2002)
    7. Identification of candidate epigenetic biomarkers for ovarian cancer detection. (PubMed id 19724865)1, 9 Huang Y.W....Lin H.J. (Oncol. Rep. 2009)
    8. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    9. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PubMed id 22190364)4 Patsopoulos N.A....de Bakker P.I. (Ann. Neurol. 2011)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 23498 HGNC: 4796 AceView: HAAO Ensembl:ENSG00000162882 euGenes: HUgn23498
    ECgene: HAAO Kegg: 23498 H-InvDB: HAAO

    (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 HAAO 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 HAAO gene:
    Search GeneIP for patents involving HAAO

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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