IDH2 R140G
Gene Variant Detail

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Gene IDH2
Variant R140G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R140G lies within the substrate binding region of the Idh2 protein (UniProt.org). R140G results in decreased Idh2 stability, enzymatic activity, proliferation, and Akt phosphorylation, and decreased glycolysis but increased mitochondrial oxidative phosphorylation in cultured cells (PMID: 36335201), and has been associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 20847235), and therefore, is predicted to lead to a gain of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R140G

IDH2 mutant IDH2 R140X IDH2 R140G

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Transcript NM_002168.4
gDNA chr15:g.90088703G>C
cDNA c.418C>G
Protein p.R140G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088703G>C c.418C>G p.R140G RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140G acute myeloid leukemia sensitive Enasidenib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial that supported FDA approval, Idhifa (enasidenib) treatment resulted in an overall response rate of 40.3% (71/176) with a median response duration of 5.8 months, complete remission in 19.3% (34/176), and stable disease in 48.3% (85/176) of acute myeloid leukemia patients harboring IDH2 mutations (PMID: 28588020; NCT01915498) and IDH2 R140G is on the companion diagnostic. detail... detail... 28588020