IDH2
Chr 15isocitrate dehydrogenase (NADP(+)) 2
Also known as: D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP, IDPM, mNADP-IDH
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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IDH2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
BGB-290 and Temozolomide in Treating Isocitrate Dehydrogenase (IDH)1/2-Mutant Grade I-IV Gliomas
ACTIVE NOT RECRUITINGTesting Olaparib and AZD6738 in IDH1 and IDH2 Mutant Tumors
ACTIVE NOT RECRUITINGA Study of Gilteritinib in Combination With Ivosidenib or Enasidenib in People With Acute Myeloid Leukemia (AML)
ACTIVE NOT RECRUITINGA Phase 1 Clinical Study of NXP900 in Subjects With Advanced Cancers
ACTIVE NOT RECRUITINGStudy on the Efficacy and Safety of VA Regimen Compared to "3+7" Regimen in Newly Diagnosed AML With NPM1 or IDH1/IDH2 Mutations
NOT YET RECRUITINGDiagnostic and Therapeutic Targets in Cartilaginous Tumours
RECRUITINGComparing New Treatments for People With Newly Diagnosed Acute Myeloid Leukemia That Has an IDH2 Gene Change (A MyeloMATCH Treatment Trial)
RECRUITINGComprehensive Analysis of Chemotherapy and Targeted Therapy Outcomes in Recurrent Malignant Gliomas
ACTIVE NOT RECRUITINGAzacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome
RECRUITINGEnasidenib in IDH2-Mutated Malignant Sinonasal and Skull Base Tumors
RECRUITINGNiraparib In Recurrent IDH 1/2 Gliomas
ACTIVE NOT RECRUITINGEnasidenib and Azacitidine in Treating Patients With Recurrent or Refractory Acute Myeloid Leukemia and IDH2 Gene Mutation
RECRUITINGExternal Resources
Links to major genomics databases and tools