IDH2 Chromosome 15
Isocitrate dehydrogenase (NADP(+)) 2
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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
RS118053940
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 2, Enchondromatosis, IDH2-related disorder
Health Risk
RS1227626398
Conflicting classifications of pathogenicity
Health Risk
RS142816010
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 2, Enchondromatosis, D-2-hydroxyglutaric aciduria 2
Health Risk
RS150943639
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
Health Risk
RS755291689
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
Health Risk
RS772170724
Conflicting classifications of pathogenicity
D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
Health Risk
RS774323865
Conflicting classifications of pathogenicity
Inborn genetic diseases, D-2-hydroxyglutaric aciduria 2, Inborn genetic diseases
Health Risk
RS1057519906
Likely pathogenic
Acute myocardial infarction, Neoplasm, Maffucci syndrome
Health Risk
RS1085307936
Likely pathogenic
Health Risk
RS767061831
Likely pathogenic
D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
Health Risk
RS1057519736
Pathogenic
Acute myocardial infarction, Vascular malformation, Acute myocardial infarction
Health Risk
RS267606870
Pathogenic
D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
Health Risk
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 |