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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HGD Gene

protein-coding   GIFtS: 67
GCID: GC03M120347

Homogentisate 1,2-Dioxygenase

(Previous name: homogentisate 1,2-dioxygenase (homogentisate oxidase))
(Previous symbol: AKU)
  See 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

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

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 alcaptonuria, and among its related super-pathways are Phenylalanine and tyrosine catabolism and Metabolic pathways. GO annotations related to this gene include metal ion binding.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HGD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

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

Explore proteomics data for HGD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q93099

  • 4/11 DME Specific Peptides for HGD (Q93099) (see all 11)
     VVAWHGN  PNEICVI  TMAFMFE  MSEFMGLI 

    HGD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HGD Protein Expression
    REFSEQ proteins: NP_000178.2  
    ENSEMBL proteins: 
     ENSP00000283871   ENSP00000419838   ENSP00000417977   ENSP00000419163   ENSP00000419560  
    Reactome Protein details: Q93099
    Human Recombinant Protein Products for HGD: 
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    Novus Biologicals HGD Proteins
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    Cloud-Clone Corp. Proteins for HGD 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    HGD for ontologies           About GeneDecksing



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


    HGD for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004411homogentisate 1,2-dioxygenase activity EXP--
    GO:0046872metal ion binding IEA--
         
    HGD for ontologies           About GeneDecksing


    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  homeostasis/metabolism  immune system  liver/biliary system  renal/urinary system 
     skeleton 

    HGD for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HGD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tyrosine degradation I
    tyrosine degradation I0.56
    Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Phenylalanine metabolism
    Tyrosine metabolism0.36
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HGD
        tyrosine degradation I


    3        Reactome Pathways for HGD
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    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


    HGD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HGD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for HGD (Q930992, 3 ENSP000002838714) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTBP2P565453, ENSP000003118254I2D: score=1 STRING: ENSP00000311825
    CTBP1Q133633, ENSP000002909214I2D: score=1 STRING: ENSP00000290921
    GSTZ1ENSP000002164654STRING: ENSP00000216465
    HPDENSP000002890044STRING: ENSP00000289004
    TERF1ENSP000002766034STRING: ENSP00000276603
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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--

    HGD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HGD for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about HGD

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/140 AceView cDNA sequences (see all 140):

    AK124291 BI759927 AF045167 U63008 BQ184523 AI984644 BF589896 BM765698 
    AW237456 BM772112 AW270892 BC071757 BM829875 BX101754 BM818532 BM830006 
    BG432599 AW615170 AW052048 BG470185 AI669618 BQ646801 BU941943 AW081505 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HGD expression in normal human tissues (normalized intensities)      HGD embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See HGD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HGD

    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

        SABiosciences Expression via Pathway-Focused PCR Array including HGD: 
              Amino Acid Metabolism II in human mouse rat

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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HGD gene from 9/24 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_416553.1  XP_416553.1 
    lizard
    (Anolis carolinensis)
    Reptilia HGD6
    Uncharacterized protein
    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 Protein HGO-1 61.75(n)
    66.98(a)
      172726  NM_060032.5  NP_492433.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HGO1 homogentisate 1,2-dioxygenase 60.34(n)
    60.19(a)
      835494  NM_124787.3  NP_200219.1 
    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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1417 SNPs in HGD are shown (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
    ----------
    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--------
    VAR_0096204
    Alkaptonuria (AKU)4--see VAR_0096202 G R mis40--------
    VAR_0052774
    Alkaptonuria (AKU)4--see VAR_0052772 D G mis40--------
    VAR_0052824
    Alkaptonuria (AKU)4--see VAR_0052822 F S 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 11 diseases for HGD:    About MalaCards
    ochronosis    alcaptonuria    metabolic disorders    lumbar disc herniation
    arthropathy    aortic valve stenosis    osteoarthritis    hepatitis b
    arthritis    hepatitis    prostatitis

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

    HGD for disorders           About GeneDecksing

    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

    PubMed articles for HGD gene, integrated from 9 sources (see all 70):
    (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. (1999)
    2. The human homogentisate 1,2-dioxygenase (HGO) gene. (PubMed id 9244427)1, 2, 9 Granadino B.... Rodriguez de Cordoba S. (1997)
    3. Crystal structure of human homogentisate dioxygenase. (PubMed id 10876237)1, 2, 9 Titus G.P.... Timm D.E. (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. (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. (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. (1999)
    7. The molecular basis of alkaptonuria. (PubMed id 8782815)1, 2, 9 Fernandez-Canon J.M.... Rodriguez de Cordoba S. (1996)
    8. Allelic heterogeneity of alkaptonuria in Central Europe. (PubMed id 10482952)1, 2, 9 Mueller C.R.... Kress W. (1999)
    9. Molecular defects in alkaptonuria. (PubMed id 9154114)1, 2, 9 Gehrig A.... Kress W. (1997)
    10. The human gene for alkaptonuria (AKU) maps to chromosome 3q. (PubMed id 8188241)1, 3, 9 Janocha S....Muller C.R. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    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
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HGD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HGD

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



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    About This Section

     
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