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FLASH GENE
Symbol D2HGDH contributors: mct - updated : 23-01-2015
HGNC name D-2-hydroxyglutarate dehydrogenase
HGNC id 28358
Corresponding disease
D2HA D-2-@hydroxyglutaric aciduria
Location 2q37.3      Physical location : 242.674.029 - 242.708.231
Synonym symbol(s) MGC25181, D2HGD, FLJ42195
EC.number 1.1.99.2
DNA
TYPE functioning gene
STRUCTURE 34.24 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2276 - 387 - 2004 15070399
10 - 2660 - 521 - 2004 15070399
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Endocrinepancreas    
Nervousbrain    
Reproductivefemale systemovary   
 male systemprostate   
Skin/Tegumentskin    
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
FAD domain
HOMOLOGY
interspecies homolog to murine D2hgdh
Homologene
FAMILY FAD-binding oxidoreductase/transferase type 4 family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • converting D-2-hydroxyglutarate into 2-ketoglutarate
  • D-2-hydroxyglutarate dehydrogenase, which converts D-2HG to 2-oxoglutarate and decreases the level of D-2-hydroxyglutaric acid (D-2HG)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism organic acid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) D2HA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS