Gene Gene information from NCBI Gene database.
Entrez ID 27294
Gene name Dihydrodiol dehydrogenase
Gene symbol DHDH
Synonyms (NCBI Gene)
2DDHUM2DD
Chromosome 19
Chromosome location 19q13.33
Summary 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 tra
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0016491 Function Oxidoreductase activity IEA
GO:0042843 Process D-xylose catabolic process IBA
GO:0042843 Process D-xylose catabolic process IEA
GO:0047115 Function Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606377 17887 ENSG00000104808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQ10
Protein name Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase (EC 1.3.1.20) (D-xylose 1-dehydrogenase) (D-xylose-NADP dehydrogenase) (EC 1.1.1.179) (Dimeric dihydrodiol dehydrogenase) (Hum2DD)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01408 GFO_IDH_MocA 3 123 Oxidoreductase family, NAD-binding Rossmann fold Family
PF02894 GFO_IDH_MocA_C 136 265 Oxidoreductase family, C-terminal alpha/beta domain Domain
Tissue specificity TISSUE SPECIFICITY: Small intestine. {ECO:0000269|PubMed:10477285}.
Sequence
Sequence length 334
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Pentose and glucuronate interconversions
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs757900117 RCV000205445
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 16886619
Adenocarcinoma of Lung Associate 16886619
Carcinoma Non Small Cell Lung Associate 16886619
Disease Resistance Associate 16886619
Lung Diseases Associate 16886619
Neoplasm Metastasis Associate 16886619
Neoplasms Associate 16886619
Ovarian Neoplasms Associate 11842089