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DHDH Gene(Protein Coding)

Dihydrodiol Dehydrogenase

GCID:
GC19P048933
GIFtS:
42
Genes Participants
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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
  • 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 3
  • Hum2DD 4

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 Lung Cancer and Rubeosis Iridis. Among its related pathways are Drug metabolism - cytochrome P450 and Benzene metabolism. 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 GFOD2.

Additional gene information for DHDH Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHDH Gene

Genomics for DHDH Gene

GeneHancer (GH) Regulatory Elements for DHDH Gene

Promoters and enhancers for DHDH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J048933 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 606 -0.5 -538 2.2 SP1 ZSCAN21 SP7 KLF14 EGR1 CREB1 CAVIN1 GMEB1 ZNF600 PRDM10 DHDH NUCB1 GC19P048929
GH19J048958 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +30.4 30390 10.2 MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 SIX5 ZNF148 NKRF POLR2A FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PRR12 PTOV1-AS2 GRWD1 PIH1D1 IRF3
GH19J048937 Enhancer 0.8 ENCODE dbSUPER 0.7 +4.2 4215 0.7 MLLT1 CEBPG TRIM24 ZNF316 MAFK MAFG ZNF592 ZBTB33 ATF7 EMSY CPT1C DHDH GC19P048950
GH19J048942 Enhancer 0.6 Ensembl 0.4 +9.7 9662 1 PKNOX1 NR2C1 EP300 GABPA NR2C2 ZNF335 DPF2 KLF16 ZBTB40 CBFA2T3 DHDH GC19P048950
- 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 UCSC Golden Path with GeneCards custom track

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
chr19:48,933,639-48,944,969
(GRCh38/hg38)
Size:
11,331 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 Structure • Gene Density

RefSeq DNA sequence for DHDH Gene

Proteins for DHDH Gene

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  • 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

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
InterPro:
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

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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

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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 2
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 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

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with DHDH: view

Pathways by source for DHDH Gene

1 BioSystems pathway 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

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GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
xylose Approved Pharma 0
Naphthalene-1,2-diol Experimental Pharma 0
Pyrocatechol Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
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
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
 53-59-8
genes like me logo Genes that share compounds with DHDH: view

Transcripts for DHDH Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for DHDH Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for DHDH Gene

Dihydrodiol dehydrogenase (dimeric):
Representative Sequences:

CRISPR Products

Clone Products

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  • * DHDH tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for DHDH Gene

GeneLoc Exon Structure for
DHDH
ECgene alternative splicing isoforms for
DHDH

Expression for DHDH Gene

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

mRNA expression in normal human tissues for DHDH Gene
mRNA expression by GTEx for DHDH Gene

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).

NURSA nuclear receptor signaling pathways regulating expression of DHDH Gene:

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(4.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with DHDH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 35 34
  • 98.3 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DHDH 35 34
  • 86.99 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia DHDH 35 34
  • 86.93 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Dhdh 17 35 34
  • 78.58 (n)
rat
(Rattus norvegicus)
 Mammalia Dhdh 34
  • 78.51 (n)
oppossum
(Monodelphis domestica)
 Mammalia DHDH 35
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DHDH 35
  • 34 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 51 (a)
 OneToMany
-- 35
  • 51 (a)
 OneToMany
-- 35
  • 47 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia dhdh 34
  • 58.86 (n)
zebrafish
(Danio rerio)
 Actinopterygii zgc:101723 34
  • 58.68 (n)
DHDH (1 of 2) 35
  • 52 (a)
 OneToMany
dhdhl 35
  • 46 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG3609 35 36 34
  • 53.6 (n)
 OneToMany
CG3597 35 36
  • 37 (a)
 OneToMany
CG13280 35 36
  • 24 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009945 34
  • 49.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 37
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT4G09670 34
  • 38.57 (n)
rice
(Oryza sativa)
 Liliopsida Os10g0403700 34
  • 46.69 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU01704 34
  • 48.83 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC513.06c 34
  • 45.43 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 44 (a)
 OneToOne
Species where no ortholog for DHDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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Sequence variations from dbSNP and Humsavar for DHDH Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs757900117 uncertain-significance, Malignant tumor of prostate 48,939,693(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000022331 -- 48,932,310(+) G/A upstream_transcript_variant
rs1000038394 -- 48,940,592(+) G/A intron_variant
rs1000087336 -- 48,940,750(+) G/A intron_variant
rs1000909338 -- 48,935,756(+) G/A intron_variant

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

(2) MalaCards diseases for DHDH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • adenocarcinoma of lung
rubeosis iridis
- 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
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 58
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 58
  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 58
  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 45 58
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 45 58

ExternalLinks

View latest publications for DHDH gene in Mastermind

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