======= D2HGDH ======= == Gene Information == * **Official Symbol**: D2HGDH * **Official Name**: D-2-hydroxyglutarate dehydrogenase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=728294|728294]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8N465|Q8N465]] * **Interactions**: [[https://thebiogrid.org/search.php?search=D2HGDH&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20D2HGDH|Open PubMed]] * **OMIM**: [[https://omim.org/entry/609186|Open OMIM]] == Function Summary == * **Entrez Summary**: 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 Summary**: Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. {ECO:0000269|PubMed:15070399}. |FAD binding 4| |FAD-oxidase C| |(R)-2-hydroxyglutarate dehydrogenase activity| |lactate oxidation| |D-lactate dehydrogenase (cytochrome) activity| |response to cobalt ion| |lactate metabolic process| |2-oxoglutarate metabolic process| |response to manganese ion| |response to magnesium ion| |FAD binding| |response to zinc ion| |extrinsic component of cytoplasmic side of plasma membrane| |dicarboxylic acid metabolic process| |respiratory electron transport chain| |response to calcium ion| |cellular respiration| |electron transport chain| |energy derivation by oxidation of organic compounds| |mitochondrial matrix| |response to metal ion| |generation of precursor metabolites and energy| |cofactor metabolic process| |organic hydroxy compound metabolic process| |monocarboxylic acid metabolic process| |response to inorganic substance| |carboxylic acid metabolic process| |oxidation-reduction process| |oxoacid metabolic process| |organic acid metabolic process| |mitochondrion| |small molecule metabolic process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 5728 * **Expression level (log2 read counts)**: 4.23 {{:chemogenomics:nalm6 dist.png?nolink |}}