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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.
RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GENE INFORMATION
Gene name
D2HGDH (HGNC Symbol)
Synonyms
D2HGD, FLJ42195, MGC25181
Description
D-2-hydroxyglutarate dehydrogenase (HGNC Symbol)
Entrez gene 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]
SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003824 [catalytic activity] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006103 [2-oxoglutarate metabolic process] GO:0010042 [response to manganese ion] GO:0010043 [response to zinc ion] GO:0016491 [oxidoreductase activity] GO:0016614 [oxidoreductase activity, acting on CH-OH group of donors] GO:0032025 [response to cobalt ion] GO:0044237 [cellular metabolic process] GO:0044267 [cellular protein metabolic process] GO:0044281 [small molecule metabolic process] GO:0050660 [flavin adenine dinucleotide binding] GO:0051990 [(R)-2-hydroxyglutarate dehydrogenase activity] GO:0055114 [oxidation-reduction process]