• What is IDH2?
  • IDH2 in Glioma
  • Clinical Trials


Isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2) is a gene that encodes an epigenetic modifier, a NADP(+)-dependent enzyme that is found in mitochondria (Gene 2013). Wild type IDH2 converts isocitrate to α-ketoglutarate, a step in the Krebs cycle, an important metabolic pathway that affects many other cellular biochemical processes (Shih et al. 2012).

IDH2 is frequently mutated in glioma, acute myeloid leukemia, and myelodysplastic syndromes (Haferlach et al. 2014; Walter et al. 2013; Yang et al. 2012). Mutations generally involve point mutations at the R140 and R172 residues of the protein. Mutations in IDH1 and IDH2 result in deleterious “gain of function”: instead of converting isocitrate to α-ketoglutarate, mutated IDH1 or IDH2 converts isocitrate to 2-hydroxyglutarate (Shih et al. 2012; Yang et al. 2012). 2-hydroxyglutarate inhibits other proteins involved in epigenetic regulation (Shih et al. 2012).

Related Pathways

Contributors: Scott Wheeler, Ph.D. (through June 2014), Adam Seegmiller, M.D., Ph.D., Cindy L. Vnencak-Jones, Ph.D., Stephen W. Clark, M.D., Ph.D., Annette S. Kim, M.D., Ph.D.

Suggested Citation: Wheeler, S., A. Seegmiller, C. Vnencak-Jones, S. Clark, A. Kim. 2015. IDH2. My Cancer Genome https://www.padiracinnovation.org/content/disease/glioma/idh2/?tab=0 (Updated December 4).

Last Updated: December 4, 2015

IDH2 in Glioma

IDH2 is mutated in 1.7% of glioma cases (COSMIC). IDH2 mutations account for 5–10% of all IDH mutations in glioma and occur at codon 172 with similar functional consequences (Dang, Jin, and Su 2010). Mutations of the R140 or R172 residues both result in a protein with different function; the new function is believed to contribute to carcinogenesis and tumor growth (Dang, Jin, and Su 2010).​

Contributors: Ty W. Abel, M.D., Ph.D., Kenneth D. Aldape, M.D., Stephen W. Clark, M.D., Ph.D., Cindy L. Vnencak-Jones, Ph.D., Bret Mobley, M.D., M.S.

Suggested Citation: Abel, T., K. Aldape, S. Clark, C. Vnencak-Jones, B. Mobley. 2014. IDH2 in Glioma. My Cancer Genome https://www.padiracinnovation.org/content/disease/glioma/idh2/ (Updated September 9).

Last Updated: September 9, 2014

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