DHDH (dihydrodiol dehydrogenase)

Gene

• Entrez ID: 27294
• Gene name: Dihydrodiol dehydrogenase
• Gene symbol: DHDH
• Synonyms (NCBI Gene): 2DD, HUM2DD
• 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)

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
GO:0047837	Function	D-xylose 1-dehydrogenase (NADP+) activity	IBA
GO:0047837	Function	D-xylose 1-dehydrogenase (NADP+) activity	IEA

Other IDs

• MIM: 606377
• HGNC: 17887
• e!Ensembl: 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:

  MALRWGIVSVGLISSDFTAVLQTLPRSEHQVVAVAARDLSRAKEFAQKHDIPKAYGSYEE
  LAKDPSVEVAYIGTQHPQHKAAVMLCLAAGKAVLCEKPTGVNAAEVREMVAEARSRALFL
  MEAIWTRFFPASEALRSVLAQGTLGDLRVARAEFGKNLIHVPRAVDRAQAGGALLDIGIY
  CVQFTSMVFGGQKPEKISVVGRRHETGVDDTVTVLLQYPGEVHGSFTCSITVQLSNTASV
  SGTKGMVQLLNPCWCPTELVVKGEHKEFPLPPVPKDCNFDNGAGMSYEAKHVWECLRKGM
  KESPVIPLSESELLADILEEVRKAIGVTFPQDKR

• Sequence length: 334

Pathways

KEGG:

Pentose and glucuronate interconversions
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	11453732		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17009030		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17163506, 25354524		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16427687		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30225603		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	17661040		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29154431		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12579257		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	16886619	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17163506, 25354524		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	21716162		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11289154		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11842089	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	21716162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15197778		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18600452		★☆☆☆☆ Found in Text Mining only