IDH2 Chromosome 15

Isocitrate dehydrogenase (NADP(+)) 2
14 variants 14 Health Risk

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What This Gene Does
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Isocitrate dehydrogenases
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000182054
Associated Conditions (10)
D-2-hydroxyglutaric aciduria 2
Enchondromatosis
IDH2-related disorder
Inborn genetic diseases
Acute myocardial infarction
Neoplasm
Maffucci syndrome
Vascular malformation
IDH-mutant and 1p/19q-codeleted oligodendroglioma
Astrocytoma IDH-mutant
Key Variants
All Variants (14)
RSID Category Clinical Significance Conditions
RS118053940 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, Enchondromatosis, IDH2-related disorder
RS1227626398 Health Risk Conflicting classifications of pathogenicity
RS142816010 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, Enchondromatosis, D-2-hydroxyglutaric aciduria 2
RS150943639 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS755291689 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS772170724 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS774323865 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, D-2-hydroxyglutaric aciduria 2, Inborn genetic diseases
RS1057519906 Health Risk Likely pathogenic Acute myocardial infarction, Neoplasm, Maffucci syndrome
RS1085307936 Health Risk Likely pathogenic
RS767061831 Health Risk Likely pathogenic D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS1057519736 Health Risk Pathogenic Acute myocardial infarction, Vascular malformation, Acute myocardial infarction
RS267606870 Health Risk Pathogenic D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS121913502 Health Risk Pathogenic/Likely pathogenic D-2-hydroxyglutaric aciduria 2, Neoplasm, Inborn genetic diseases
RS121913503 Health Risk risk factor Acute myocardial infarction, Acute myocardial infarction, Neoplasm
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