Location [1]
Chromatin remodeling/DNA methylation, Metabolic signaling
Protein [2]
Isocitrate dehydrogenase [NADP], mitochondrial
Synonyms [1]

IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial), encodes for the isocitrate dehydrogenase [NADP], mitochondrial protein, an epigenetic modifier. IDH2 is frequently mutated in glioma and acute myeloid leukemia (PMID: 23071358).

IDH2 is altered in 1.13% of all cancers with acute myeloid leukemia, breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, and myelodysplastic syndromes having the greatest prevalence of alterations [3].

IDH2 GENIE Cases - Top Diseases

The most common alterations in IDH2 are IDH2 Mutation (1.35%), IDH2 Codon 140 Missense (0.41%), IDH2 R140Q (0.38%), IDH2 Codon 172 Missense (0.34%), and IDH2 Amplification (0.20%) [3].

IDH2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of IDH2 in Diseases

Acute Myeloid Leukemia +

Glioma +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Malignant Glioma +

Cholangiocarcinoma +

Oligodendroglioma +

Chronic Myelomonocytic Leukemia +

Astrocytoma +

Myeloproliferative Neoplasm +

WHO Grade II Glioma +

Anaplastic Astrocytoma +

Glioblastoma +

Clear Cell Renal Cell Carcinoma +

Ependymoma +

Multiple Myeloma +

WHO Grade III Glioma +

Angioimmunoblastic T-Cell Lymphoma +

Anaplastic Oligodendroglioma +

Leukemia +

Myeloid Neoplasm +

Diffuse Glioma +

Myelofibrosis +

Lymphoma +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Renal Cell Carcinoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Diffuse Astrocytoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

High-Grade Glioma, NOS +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Mesothelioma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Oligoastrocytoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Pleural Mesothelioma +

Primary Brain Neoplasm +

Primary Central Nervous System Lymphoma +

Schwannoma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Uveal Melanoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.