Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27294
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydrodiol dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHDH
Synonyms (NCBI Gene) Gene synonyms aliases
2DD, HUM2DD
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez 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 tra
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606377 17887 ENSG00000104808
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease 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