This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and i... See more...

Aliases for DHDH Gene

Aliases for DHDH Gene

  • Dihydrodiol Dehydrogenase 2 3 5
  • Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase 2 3 4
  • D-Xylose-NADP Dehydrogenase 3 4
  • D-Xylose 1-Dehydrogenase 3 4
  • HUM2DD 2 3
  • 2DD 3 4
  • Dihydrodiol Dehydrogenase (Dimeric) 3
  • Dimeric Dihydrodiol Dehydrogenase 4
  • 3-Deoxyglucosone Reductase 3
  • EC 1.1.1.179 4
  • EC 1.3.1.20 4
  • Hum2DD 4
  • DHDH 5

External Ids for DHDH Gene

Previous GeneCards Identifiers for DHDH Gene

  • GC19P050095
  • GC19P049805
  • GC19P054112
  • GC19P054128
  • GC19P049436
  • GC19P045813

Summaries for DHDH Gene

Entrez Gene Summary for DHDH Gene

  • This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]

GeneCards Summary for DHDH Gene

DHDH (Dihydrodiol Dehydrogenase) is a Protein Coding gene. Diseases associated with DHDH include Malignant Choroid Melanoma and Myasthenic Syndrome, Congenital, 7, Presynaptic. Among its related pathways are Metabolism and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity. An important paralog of this gene is GFOD1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHDH Gene

Genomics for DHDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHDH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DHDH gene promoter:
  • AP-4
  • AREB6
  • C/EBPalpha
  • COMP1
  • ER-alpha
  • Nkx5-1
  • NRSF form 1
  • NRSF form 2
  • STAT5A

Genomic Locations for DHDH Gene

Genomic Locations for DHDH Gene
chr19:48,932,790-48,944,969
(GRCh38/hg38)
Size:
12,180 bases
Orientation:
Plus strand
chr19:49,436,939-49,448,226
(GRCh37/hg19)
Size:
11,288 bases
Orientation:
Plus strand

Genomic View for DHDH Gene

Genes around DHDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DHDH Gene

Proteins for DHDH Gene

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

    Protein Symbol:
    Q9UQ10-DHDH_HUMAN
    Recommended name:
    Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
    Protein Accession:
    Q9UQ10

    Protein attributes for DHDH Gene

    Size:
    334 amino acids
    Molecular mass:
    36382 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for DHDH Gene

Post-translational modifications for DHDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHDH Gene

No data available for DME Specific Peptides for DHDH Gene

Domains & Families for DHDH Gene

Gene Families for DHDH Gene

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

Protein Domains for DHDH Gene

InterPro:
Blocks:
  • Oxidoreductase, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for DHDH Gene

GenScript: Design optimal peptide antigens:
  • Hum2DD (DHDH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQ10

UniProtKB/Swiss-Prot:

DHDH_HUMAN :
  • Belongs to the Gfo/Idh/MocA family.
Family:
  • Belongs to the Gfo/Idh/MocA family.
genes like me logo Genes that share domains with DHDH: view

Function for DHDH Gene

Molecular function for DHDH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + trans-1,2-dihydrobenzene-1,2-diol = catechol + H(+) + NADPH; Xref=Rhea:RHEA:16729, ChEBI:CHEBI:15378, ChEBI:CHEBI:16740, ChEBI:CHEBI:18135, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.20;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-xylose + NADP(+) = D-xylono-1,5-lactone + H(+) + NADPH; Xref=Rhea:RHEA:22000, ChEBI:CHEBI:15378, ChEBI:CHEBI:15867, ChEBI:CHEBI:53455, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.179;.

Enzyme Numbers (IUBMB) for DHDH Gene

Phenotypes From GWAS Catalog for DHDH Gene

Gene Ontology (GO) - Molecular Function for DHDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008746 NAD(P)+ transhydrogenase activity TAS 10477285
GO:0009055 electron transfer activity TAS 10477285
GO:0016491 oxidoreductase activity IEA --
GO:0047115 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IEA --
GO:0047837 D-xylose 1-dehydrogenase (NADP+) activity IBA 21873635
genes like me logo Genes that share ontologies with DHDH: view
genes like me logo Genes that share phenotypes with DHDH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DHDH

CRISPR Products

Inhibitory RNA Products

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

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

Localization for DHDH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHDH gene
Compartment Confidence
extracellular 3
cytoskeleton 3
nucleus 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DHDH Gene

Pathways & Interactions for DHDH Gene

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

Pathways by source for DHDH Gene

Gene Ontology (GO) - Biological Process for DHDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10477285
GO:0022900 electron transport chain IEA --
GO:0042843 D-xylose catabolic process IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DHDH: view

No data available for SIGNOR curated interactions for DHDH Gene

Drugs & Compounds for DHDH Gene

(12) Drugs for DHDH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
xylose Approved Pharma 0
NADPH Experimental Pharma 0
NADP Experimental Pharma 0
Pyrocatechol Experimental Pharma 0

(23) Additional Compounds for DHDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,2-Dihydronaphthalene-1,2-diol
  • 1,2-Dihydroxy-1,2-dihydronaphthalene
  • 1,2-Dihydroxy-1,2-dihydronaphthalene, (cis)-(+-)-isomer
  • Naphthalene-1,2-dihydrodiol
  • trans-1,2-Dihydroxy-1,2-dihydronaphthalene
  • 1,2-Dihydroxy-1,2-dihydronaphthalene, (1S-trans)-isomer
D-Xylono-1,5-lactone
  • D-Xylonolactone
  • Xylonolactone
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Naphthalene-1,2-diol
  • 1,2-Dihydroxynaphthalene
  • 1,2-Naphthalenediol
  • 1,2-Naphthohydroquinone
  • beta-Naphthohydroquinone
  • b-Naphthohydroquinone
trans-1,2-Dihydrobenzene-1,2-diol
  • Arene diol
  • cis-3,5-Cyclohexadiene-1,2-diol solution
  • Racemic mixture OF (+)- and (-)-1,2-dihydroxy-1,2-dihydrobenzene
  • Rel-(1R,2R)-cyclohexa-3,5-diene-1,2-diol
  • trans-(+-)-3,5-Cyclohexadiene-1,2-diol
103302-38-1
genes like me logo Genes that share compounds with DHDH: view

Transcripts for DHDH Gene

mRNA/cDNA for DHDH Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for DHDH Gene

GeneLoc Exon Structure for
DHDH

Expression for DHDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Kidney - Cortex (x9.7) and Small Intestine - Terminal Ileum (x6.1).

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

SOURCE GeneReport for Unigene cluster for DHDH Gene:

Hs.631555

mRNA Expression by UniProt/SwissProt for DHDH Gene:

Q9UQ10-DHDH_HUMAN
Tissue specificity: Small intestine.

Evidence on tissue expression from TISSUES for DHDH Gene

  • Intestine(4.4)
  • Blood(2.4)
  • Kidney(2.4)
  • Spleen(2.3)
  • Lymph node(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with DHDH: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHDH Gene

Orthologs for DHDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DHDH 30 31
  • 98.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHDH 30 31
  • 86.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHDH 30 31
  • 86.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dhdh 30 17 31
  • 78.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhdh 30
  • 78.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia DHDH 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DHDH 31
  • 34 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
-- 31
  • 47 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhdh 30
  • 58.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:101723 30
  • 58.68 (n)
DHDH (1 of 2) 31
  • 52 (a)
OneToMany
dhdhl 31
  • 46 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3609 30 31 32
  • 53.6 (n)
OneToMany
CG3597 31 32
  • 37 (a)
OneToMany
CG13280 31 32
  • 24 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009945 30
  • 49.35 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G09670 30
  • 38.57 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0403700 30
  • 46.69 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01704 30
  • 48.83 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC513.06c 30
  • 45.43 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for DHDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DHDH Gene

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

Paralogs for DHDH Gene

Paralogs for DHDH Gene

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

Variants for DHDH Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs757900117 Uncertain Significance: Malignant tumor of prostate 48,939,693(+) A/T MISSENSE_VARIANT
rs10401800 - p.Ala2Pro
rs11666105 - p.Val247Ala
rs2270941 - p.Ser66Asn
rs35453148 - p.Val200Met

Additional dbSNP identifiers (rs#s) for DHDH Gene

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

Variant ID Type Subtype PubMed ID
esv3644608 CNV loss 21293372
esv3644609 CNV loss 21293372
nsv518164 CNV loss 19592680
nsv521890 CNV gain 19592680
nsv833855 CNV loss 17160897
nsv833856 CNV loss 17160897
nsv833857 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for DHDH Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.70; 97.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHDH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DHDH Gene

MalaCards: The human disease database

(6) MalaCards diseases for DHDH Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant choroid melanoma
  • malignant melanoma of choroid
myasthenic syndrome, congenital, 7, presynaptic
  • cms7
vitreous detachment
  • posterior vitreous detachment
rubeosis iridis
retinal perforation
  • retinal break
- elite association - COSMIC cancer census association via MalaCards
Search DHDH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DHDH

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

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

Publications for DHDH Gene

  1. Cloning and sequencing of the cDNA species for mammalian dimeric dihydrodiol dehydrogenases. (PMID: 10477285) Arimitsu E … Hara A (The Biochemical journal 1999) 2 3 4 23
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 41
  3. Overexpression of dihydrodiol dehydrogenase as a prognostic marker in resected gastric cancer patients. (PMID: 18600452) Chang HC … Fang HY (Digestive diseases and sciences 2009) 3 23
  4. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 41
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 41

Products for DHDH Gene

Sources for DHDH Gene