Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



HGD Gene

protein-coding   GIFtS: 67
GCID: GC03M120347

Homogentisate 1,2-Dioxygenase

(Previous name: homogentisate 1,2-dioxygenase (homogentisate oxidase))
(Previous symbol: AKU)
  See HGD-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)
About This Section

TryGeneCards Plus

Aliases
Homogentisate 1,2-Dioxygenase1 2     HGO2 3
AKU1 2 5     EC 1.13.11.53 8
Homogentisate Oxidase1 2     Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase)1
Homogentisate Oxygenase2 3     homogentisicase2
Homogentisic Acid Oxidase2 3     Homogentisicase3

External Ids:    HGNC: 48921   Entrez Gene: 30812   Ensembl: ENSG000001139247   OMIM: 6074745   UniProtKB: Q930993   

Export aliases for HGD gene to outside databases

Previous GC identifers: GC03M116980 GC03M119987 GC03M121628 GC03M121667 GC03M121829 GC03P9I0013 GC03M117720


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for HGD Gene:
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino
acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism
disorder alkaptonuria.(provided by RefSeq, May 2010)

GeneCards Summary for HGD Gene:
HGD (homogentisate 1,2-dioxygenase) is a protein-coding gene. Diseases associated with HGD include ochronosis, and alkaptonuria.




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HGD gene promoter:
         HFH-3   HSF1 (long)   LUN-1   CUTL1   FOXI1   PPAR-gamma1   POU2F1   POU2F1a   HSF1short   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHGD promoter sequence
   Search Chromatin IP Primers for HGD

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


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

Entrez Gene cytogenetic band: 3q13.33   Ensembl cytogenetic band:  3q13.33   HGNC cytogenetic band: 3q

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M120347:  view genomic region     (about GC identifiers)

Start:
120,347,015 bp from pter      End:
120,401,418 bp from pter
Size:
54,404 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099 (See protein sequence)
Recommended Name: Homogentisate 1,2-dioxygenase  
Size: 445 amino acids; 49964 Da
Cofactor: Iron
Subunit: Homohexamer arranged as a dimer of trimers
2 PDB 3D structures from and Proteopedia for HGD:
1EY2 (3D)        1EYB (3D)    
Secondary accessions: A8K417 B2R8Z0

Explore the universe of human proteins at neXtProt for HGD: NX_Q93099

Explore proteomics data for HGD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HGD (Q93099) (see all 11)
     VVAWHGN  PNEICVI  TMAFMFE  MSEFMGLI 


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

    REFSEQ proteins: NP_000178.2  
    ENSEMBL proteins: 
     ENSP00000283871   ENSP00000419838   ENSP00000417977   ENSP00000419163   ENSP00000419560  
    Reactome Protein details: Q93099

    HGD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HGD
    OriGene Protein Over-expression Lysate for HGD
    OriGene MassSpec for HGD
    OriGene Custom Protein Services for HGD
    GenScript Custom Purified and Recombinant Proteins Services for HGD
    Novus Biologicals HGD Proteins
    Novus Biologicals HGD Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HGD

     
    Search eBioscience for Proteins for HGD 

     
    antibodies-online proteins for HGD (14 products) 

     
    antibodies-online peptides for HGD

    HGD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HGD
    OriGene Custom Antibody Services for HGD
    Novus Biologicals HGD Antibodies
    Abcam antibodies for HGD
    Cloud-Clone Corp. Antibodies for HGD
    Search ThermoFisher Antibodies for HGD
    antibodies-online antibodies for HGD (37 products) 

    HGD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HGD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HGD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HGD
    Cloud-Clone Corp. CLIAs for HGD
    Search eBioscience for ELISAs for HGD 
    antibodies-online kits for HGD (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR005708 Homogentis_dOase
     IPR011051 RmlC_Cupin
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry Q93099

    ProtoNet protein and cluster: Q93099

    1 Blocks protein domain: IPB005708 Homogentisate 1,2-dioxygenase

    UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099
    Similarity: Belongs to the homogentisate dioxygenase family


    Find genes that share domains with HGD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HGD_HUMAN, Q93099
    Catalytic activity: Homogentisate + O(2) = 4-maleylacetoacetate

         Genatlas biochemistry entry for HGD:
    homogentisate 1,2 dioxygenase (49kDa),catalyzing the third step of tyrosine catabolism

         Enzyme Number (IUBMB): EC 1.13.11.51 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004411homogentisate 1,2-dioxygenase activity EXP--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with HGD           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HGD:
     Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hgd):
     growth/size/body  homeostasis/metabolism  immune system  liver/biliary system  renal/urinary system 
     skeleton 

    Find genes that share phenotypes with HGD           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HGD

    miRNA
    Products:
        
    miRTarBase miRNAs that target HGD:
    hsa-mir-335-5p (MIRT018123), hsa-mir-26b-5p (MIRT029700)

    Block miRNA regulation of human, mouse, rat HGD using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate HGD
    SwitchGear 3'UTR luciferase reporter plasmidHGD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HGD
    Predesigned siRNA for gene silencing in human, mouse, rat HGD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HGD

    Clone
    Products:
         
    OriGene clones in human, mouse for HGD (see all 8)
    OriGene ORF clones in mouse, rat for HGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HGD (NM_004309)
    Sino Biological Human cDNA Clone for HGD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HGD

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HGD
    Browse ESI BIO Cell Lines and PureStem Progenitors for HGD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with HGD           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for HGD About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    tyrosine degradation I0.00
    Phenylalanine and tyrosine catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Phenylalanine metabolism
    Tyrosine metabolism0.36


    Find genes that share SuperPaths with HGD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HGD
        tyrosine degradation I


    1 Reactome Pathway for HGD
        Phenylalanine and tyrosine catabolism


    2 Kegg Pathways  (Kegg details for HGD):
        Tyrosine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099
    Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step
    4/6

        Pathway & Disease-focused RT2 Profiler PCR Array including HGD: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HGD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for HGD (Q930992, 3 ENSP000002838714) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTBP2P565453, ENSP000003118254I2D: score=1 STRING: ENSP00000311825
    CTBP1Q133633, ENSP000002909214I2D: score=1 STRING: ENSP00000290921
    GSTZ1ENSP000002164654STRING: ENSP00000216465
    HPDENSP000002890044STRING: ENSP00000289004
    SRP14ENSP000002678844STRING: ENSP00000267884
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process ----
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006570tyrosine metabolic process ----
    GO:0006572tyrosine catabolic process IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with HGD           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HGD

    4 HMDB Compounds for HGD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Homogentisic acid(2,5-dihydroxyphenyl)-Acetate (see all 15)451-13-8--
    IronArmco iron (see all 19)7439-89-6--
    Maleylacetoacetic acidMaleylacetoacetate (see all 3)5698-52-2--
    OxygenOxygen (see all 5)7782-44-7--

    4 Novoseek inferred chemical compound relationships for HGD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    homogentisate 97.8 28 10205262 (2), 9244427 (2), 9069115 (1), 10876237 (1) (see all 22)
    maleylacetoacetate 81.7 3 15479158 (1), 14678794 (1)
    phenylalanine 62 5 12872815 (1), 10985185 (1), 19306858 (1), 11001939 (1)
    tyrosine 46.7 9 12872815 (1), 10461246 (1), 15479158 (1), 14678794 (1) (see all 8)



    Find genes that share compounds with HGD           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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for HGD gene: 
    NM_000187.3  

    Unigene Cluster for HGD:

    Homogentisate 1,2-dioxygenase
    Hs.368254  [show with all ESTs]
    Unigene Representative Sequence: NM_000187
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283871(uc003edv.3 uc003edw.3) ENST00000492108 ENST00000470321
    ENST00000475447 ENST00000494453 ENST00000476082 ENST00000485313 ENST00000488183
    ENST00000466528 ENST00000480862
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HGD using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate HGD
    SwitchGear 3'UTR luciferase reporter plasmidHGD 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HGD
    Predesigned siRNA for gene silencing in human, mouse, rat HGD
    Clone
    Products:
         
    OriGene clones in human, mouse for HGD (see all 8)
    OriGene ORF clones in mouse, rat for HGD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HGD (NM_004309)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HGD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HGD
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HGD
    OriGene qSTAR qPCR primer pairs in human, mouse for HGD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HGD
      QuantiTect SYBR Green Assays in human, mouse, rat HGD
      QuantiFast Probe-based Assays in human, mouse, rat HGD

    Additional mRNA sequence: 

    AF045167.1 AK290782.1 AK313563.1 BC020792.1 BC071757.1 U63008.1 Z75048.1 

    13 DOTS entries:

    DT.448199  DT.75102164  DT.120896549  DT.40114075  DT.97841083  DT.95134736  DT.120896535  DT.65285493 
    DT.87015021  DT.100664585  DT.120896538  DT.40114076  DT.40246141 

    Selected AceView cDNA sequences (see all 140):

    BG432599 BM818532 BM772112 BQ184523 AI984644 AW237456 BM829875 AK124291 
    BX101754 BM765698 BI759927 AF045167 U63008 BC071757 BM830006 AW270892 
    BF589896 BX954432 BI759959 BF593172 AI476236 BG470185 BE786248 BE552467 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HGD (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
    SP1:                          -                                         -                 -                                             
    SP2:                          -                                         -                 -                 -     -                     
    SP3:                                                              -     -     -     -     -           -     -                           
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for HGD

    (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)
    About This Section

    TryGeneCards Plus

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


    HGD 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 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Kidney (Urinary System)
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    HGD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HGD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368254

    UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099
    Tissue specificity: Highest expression in the prostate, small intestine, colon, kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including HGD: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HGD
    OriGene qSTAR qPCR primer pairs in human, mouse for HGD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HGD
    QuantiTect SYBR Green Assays in human, mouse, rat HGD
    QuantiFast Probe-based Assays in human, mouse, rat HGD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGD

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HGD gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hgd1 , 5 homogentisate 1, 2-dioxygenase1, 5 88.44(n)1
    92.79(a)1
      16 (26.40 cM)5
    152331  NM_013547.31  NP_038575.21 
     375801535 
    chicken
    (Gallus gallus)
    Aves HGD1 homogentisate 1,2-dioxygenase 76.92(n)
    83.6(a)
      418330  XM_416553.2  XP_416553.1 
    lizard
    (Anolis carolinensis)
    Reptilia HGD6
    homogentisate 1,2-dioxygenase
    75(a)
    1 ↔ 1
    GL343473.1(634022-650903)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.88152 Transcribed sequence with moderate similarity to protein spQ93099 (H.sapiens) HGD_HUMAN Homogentisate 1,2-dioxygenase (Homogentisicase) (Homogentisate oxygenase) (Homogentisic acid oxidase) less 78.1(n)    CF150913.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hgd2 homogentisate 1,2-dioxygenase 76.45(n)   259189  BC064283.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hgo1 , 3 phenylalanine catabolism homogentisate
    1,2-dioxygenase less3
    homogentisate 1,2-dioxygenase1
    65(a)3
    65.59(n)1
    67.44(a)1
      32D53
    345521  NM_078820.21  NP_523544.21 
    worm
    (Caenorhabditis elegans)
    Secernentea hgo-11 hgo-1 61.83(n)
    66.98(a)
      172726  NM_060032.6  NP_492433.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HGO1 HGO 60.27(n)
    60.19(a)
      835494  NM_180856.3  NP_851187.1 
    rice
    (Oryza sativa)
    Liliopsida Os.116222 Oryza sativa (japonica cultivar-group) cDNA cloneJ013002E07, full insert sequence less 73.4(n)    AK062144.1 


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

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

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for HGD (see all 1417)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1200741731,2,,4
    CAlkaptonuria (AKU)4 pathogenic1120319373(-) GCACAA/GTGACC 2 M V mis11Minor allele frequency- G:0.00NA 4542
    rs289421001,2,,4
    CAlkaptonuria (AKU)4 pathogenic1120330548(-) TGATAC/TCCATT 2 P S mis10--------
    rs289417831,2,,4
    CAlkaptonuria (AKU)4 pathogenic1120333184(-) AGAAAG/AGGAAC 2 /R /G mis1 ese3 trp31Minor allele frequency- A:0.00NA 4542
    VAR_0096194
    Alkaptonuria (AKU)4--see VAR_0096192 E K mis40--------
    VAR_0052794
    Alkaptonuria (AKU)4--see VAR_0052792 S I mis40--------
    VAR_0087444
    Alkaptonuria (AKU)4--see VAR_0087442 R S mis40--------
    VAR_0052854
    Alkaptonuria (AKU)4--see VAR_0052852 D E mis40--------
    VAR_0052804
    Alkaptonuria (AKU)4--see VAR_0052802 I T mis40--------
    VAR_0052734
    Alkaptonuria (AKU)4--see VAR_0052732 W G mis40--------
    VAR_0052744
    Alkaptonuria (AKU)4--see VAR_0052742 Y C mis40--------

    HapMap Linkage Disequilibrium report for HGD (120347015 - 120401418 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HGD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829699CNV Loss17160897
    nsv877377CNV Gain21882294
    nsv877378CNV Gain21882294

    Human Gene Mutation Database (HGMD): HGD
    Locus Specific Mutation Databases (LSDB): HGD

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

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607474   
    OMIM disorders: 203500  
    UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099
  • Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase
    in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and
    alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for HGD:    
    About MalaCards
    ochronosis    alkaptonuria    lumbar disc herniation

    5 diseases from the University of Copenhagen DISEASES database for HGD:
    Alkaptonuria     Ochronosis     Alcaptonuria     Arthropathy
    Aortic valve stenosis

    Find genes that share disorders with HGD           About GenesLikeMe

    7 Novoseek inferred disease relationships for HGD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alkaptonuria 98.7 46 9069115 (2), 10205262 (2), 12630963 (2), 19306858 (2) (see all 36)
    ochronosis 97.7 13 9214216 (1), 10461246 (1), 16371803 (1), 10340975 (1) (see all 13)
    metabolic disorder 67.9 8 19293619 (1), 16311673 (1), 8782815 (1), 16736091 (1) (see all 8)
    arthropathy 67.7 3 19293619 (1), 16085442 (1), 15529343 (1)
    arthritis 54.9 1 15931605 (1)
    aortic stenosis 53.7 1 10461246 (1)
    genetic disorder 38.1 2 10985185 (1), 20229718 (1)

    GeneTests: HGD
    GeneReviews: HGD
    Genetic Association Database (GAD): HGD
    Human Genome Epidemiology (HuGE) Navigator: HGD (3 documents)

    Export disorders for HGD 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for HGD gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with HGD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). (PubMed id 10205262)1, 2, 9 Beltran-Valero de Bernabe D....Rodriguez de Cordoba S. (Am. J. Hum. Genet. 1999)
    2. The human homogentisate 1,2-dioxygenase (HGO) gene. (PubMed id 9244427)1, 2, 9 Granadino B.... Rodriguez de Cordoba S. (Genomics 1997)
    3. Crystal structure of human homogentisate dioxygenase. (PubMed id 10876237)1, 2, 9 Titus G.P.... Timm D.E. (Nat. Struct. Biol. 2000)
    4. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (PubMed id 10340975)1, 2, 9 Felbor U.... Kress W. (Br. J. Ophthalmol. 1999)
    5. Mutation and polymorphism analysis of the human homogentisate 1, 2- dioxygenase gene in alkaptonuria patients. (PubMed id 9529363)1, 2, 9 Beltran-Valero de Bernabe D.... de Cordoba S.R. (Am. J. Hum. Genet. 1998)
    6. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. (PubMed id 10594001)1, 2, 9 Beltran-Valero de Bernabe D.... Ranki A. (J. Med. Genet. 1999)
    7. The molecular basis of alkaptonuria. (PubMed id 8782815)1, 2, 9 Fernandez-Canon J.M.... Rodriguez de Cordoba S. (Nat. Genet. 1996)
    8. Allelic heterogeneity of alkaptonuria in Central Europe. (PubMed id 10482952)1, 2, 9 Mueller C.R.... Kress W. (Eur. J. Hum. Genet. 1999)
    9. Molecular defects in alkaptonuria. (PubMed id 9154114)1, 2, 9 Gehrig A.... Kress W. (Cytogenet. Cell Genet. 1997)
    10. The human gene for alkaptonuria (AKU) maps to chromosome 3q. (PubMed id 8188241)1, 3, 9 Janocha S....MA1ller C.R. (Genomics 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 3081 HGNC: 4892 AceView: HGD.1 Ensembl:ENSG00000113924 euGenes: HUgn3081
    ECgene: HGD Kegg: 3081 H-InvDB: HGD

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for HGD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HGD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for HGD gene:
    Search GeneIP for patents involving HGD

    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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HGD   OriGene RNAi products in human, mouse, rat for HGD  
     OriGene qPCR primer pairs and template standards for HGD   OriGene Protein Over-expression Lysate for HGD  
     OriGene MassSpec for HGD   OriGene clones in human, mouse for HGD  
     OriGene qSTAR qPCR primer pairs in human, mouse for HGD   OriGene Purified Protein for HGD  
     OriGene ORF clones in mouse, rat for HGD   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HGD   OriGene Custom Protein Services for HGD  

     
     
     Block miRNA regulation of human, mouse, rat HGD using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HGD
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HGD Predesigned siRNA for gene silencing in human, mouse, rat HGD
     QuantiFast Probe-based Assays in human, mouse, rat HGD QuantiTect SYBR Green Assays in human, mouse, rat HGD
     PCR Arrays including human, mouse, rat HGD Search Chromatin IP Primers for HGD
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HGD  Search GeneGlobe Interaction Network for HGD
     Regulatory tfbs in HGD promoter
     GenScript Custom Purified and Recombinant Proteins Services for HGD GenScript cDNA clones with any tag delivered in your preferred vector for HGD
     GenScript Custom Assay Services for HGD GenScript Custom overexpressing Cell Line Services for HGD
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for HGD
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for HGD
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     HGD antibodies
     HGD proteins
     HGD lysates
     Antibodies for HGD
     See all of Abcam's Antibodies, Kits and Proteins for HGD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for HGD
     Antibodies for HGD
     ELISAs for HGD
     CLIAs for HGD



     Browse ESI BIO Cell Lines and PureStem Progenitors for HGD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGD
     SwitchGear 3'UTR luciferase reporter plasmids for HGD
     SwitchGear Promoter luciferase reporter plasmids for HGD
     Search ThermoFisher Antibodies for HGD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HGD
     Browse compounds at ApexBio
     Search Addgene for plasmids for HGD
      Search eBioscience for proteins for HGD
      Search eBioscience for elisas for HGD
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for HGD
     antibodies-online antibodies for HGD (37 products)
     antibodies-online kits for HGD (6 products)
     antibodies-online peptides for HGD
     antibodies-online proteins for HGD (14 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HGD gene at Home site.
    Version: 3.12.248 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4