Tbio D2HGDH D-2-hydroxyglutarate dehydrogenase, mitochondrial

Protein Summary

Description

Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q8N465
• B4E3L6
• E7ENP2
• Q6IQ24
• Q8N5Q8

Gene Name

• D2HGDH

Ensembl ID

• ENST00000321264
• ENSP00000315351
• ENSG00000180902

Symbol

• D2HGD
• D2HGD

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
histone modification site profile	0.86
transcription factor binding site profile	0.79
gene perturbation	0.71
tissue sample	0.64

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 32.57   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 97   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 32.57   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 97   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0