Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


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 1.39% of all cancers with acute myeloid leukemia, breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, and oligodendroglioma having the greatest prevalence of alterations [3].

IDH2 GENIE Cases - Top Diseases

The most common alterations in IDH2 are IDH2 Mutation (1.14%), IDH2 Exon 4 Mutation (0.79%), IDH2 Codon 140 Missense (0.48%), IDH2 R140Q (0.52%), and IDH2 Codon 172 Missense (0.32%) [3].

IDH2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of IDH2 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Glioma +

Malignant Solid Tumor +

Malignant Glioma +

Chronic Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

WHO Grade II Glioma +

Cholangiocarcinoma +

Anaplastic Astrocytoma +

Oligodendroglioma +

WHO Grade III Glioma +

Diffuse Astrocytoma +

Astrocytoma +

Breast Carcinoma +

Ependymoma +

Multiple Myeloma +

Angioimmunoblastic T-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Anaplastic Oligodendroglioma +

Leukemia +

Oligoastrocytoma +

Low Grade Glioma +

Myeloid Neoplasm +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Mixed Glioma +

Hematopoietic And Lymphoid Malignancy +

Myelodysplastic/Myeloproliferative Neoplasm +

Primary Myelofibrosis +

Diffuse Glioma +

Myelofibrosis +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

High-Grade Glioma, NOS +

Diffuse Midline Glioma, H3 K27M-Mutant +

Essential Thrombocythemia +

Myelofibrosis Transformation In Essential Thrombocythemia +

Lymphoma +

Polycythemia Vera +

Meningioma +

Glioblastoma +

Primary Brain Neoplasm +

Gastric Carcinoma +

Clear Cell Renal Cell Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Renal Cell Carcinoma +

Gallbladder Carcinoma +

Pancreatic Carcinoma +

Gastrointestinal Stromal Tumor +

Pleural Mesothelioma +

Prostate 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 Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Myeloproliferative Neoplasm, Unclassifiable +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Primary Central Nervous System Lymphoma +

Schwannoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. 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.