Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= D2HGDH ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: D2HGDH * **<color #00a2e8>Official Name</color>**: D-2-hydroxyglutarate dehydrogenase * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=728294|728294]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8N465|Q8N465]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=D2HGDH&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20D2HGDH|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609186|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. {ECO:0000269|PubMed:15070399}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |FAD binding 4| |FAD-oxidase C| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |(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| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> 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| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 5728 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.23 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='D2HGDH Expression in NALM6 Cells: 4.23'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1