Gene Location [1]
Chromatin remodeling/DNA methylation, Metabolic signaling

IDH2 Mutation is present in 1.09% of AACR GENIE cases, with leukemia, malignant glioma, colorectal adenocarcinoma, non-small cell lung carcinoma, and uterine corpus neoplasm having the greatest prevalence [4].

Top Disease Cases with IDH2 Mutation

Significance of IDH2 Mutation in Diseases

Acute Myeloid Leukemia +

Glioma +

Malignant Solid Tumor +

Cholangiocarcinoma +

Oligodendroglioma +

Myelodysplastic Syndromes +

Astrocytoma +

Clear Cell Renal Cell Carcinoma +

Multiple Myeloma +

Angioimmunoblastic T-Cell Lymphoma +

Oligoastrocytoma +

WHO Grade II Glioma +

Leukemia +

Chronic Myelomonocytic Leukemia +

WHO Grade III Glioma +

Myelofibrosis +

Lymphoma +

Malignant Glioma +

Glioblastoma +

Meningioma +

Non-Small Cell Lung Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Gastrointestinal Stromal Tumor +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

Ependymoma +

Gallbladder Carcinoma +

Mesothelioma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Pleural Mesothelioma +

Primary Central Nervous System Lymphoma +

Uveal Melanoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

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