Gene Variant Detail

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Gene IDH2
Variant R140Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R140Q lies within the substrate binding region of the Idh2 protein (UniProt.org). R140Q confers a gain of function to Idh2, enabling conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate), results in increased 2HG levels in patient samples, and is transforming in cell culture (PMID: 20171147, PMID: 23558173).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 R140X IDH2 R140Q

IDH2 mutant IDH2 act mut IDH2 R140Q

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Transcript NM_002168.3
gDNA chr15:g.90088702C>T
cDNA c.419G>A
Protein p.R140Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168 chr15:g.90088702C>T c.419G>A p.R140Q RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088702C>T c.419G>A p.R140Q RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140Q acute myeloid leukemia sensitive AGI-6780 Preclinical Actionable In a preclinical study, treatment with AGI-6780 resulted in the differentiation of erythroleukemia and AML cell lines expressing IDH2 R140Q (PMID: 23558173). 23558173
IDH2 R140Q 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 R140Q is on the companion diagnostic. detail... detail... 28588020
IDH2 R140Q acute myeloid leukemia sensitive Enasidenib Preclinical - Pdx & cell culture Actionable In a preclinical study, Enasidenib (AG-221) treatment reduced 2-hydroxyglutarate (2HG) levels and induced differentiation of leukemic blasts from acute myeloid leukemia (AML) patients harboring IDH2 R140Q in culture, and decreased 2HG levels and blast percentage and improved survival relative to Cytosar-U (cytarabine) treatment in IDH2 R140Q-mutant primary AML xenograft models (PMID: 28193778). 28193778
IDH2 R140Q glioblastoma predicted - sensitive Enasidenib Preclinical - Cell line xenograft Actionable In a preclinical study, Enasidenib (AG-221) decreased 2-hydroxyglutarate (2HG) levels in a glioblastoma cell line expressing IDH2 R140Q in culture and in xenograft models (PMID: 28193778). 28193778
IDH2 R140Q high grade glioma predicted - sensitive AG-881 Preclinical - Cell line xenograft Actionable In a preclinical study, AG-881 treatment decreased tumor 2HG levels in a glioma cell line xenograft model harboring IDH2 R140Q (Mol Cancer Ther Jan 1 2018 (17) (1 Supp) B126). detail...
IDH2 R140Q myelodysplastic syndrome not applicable N/A Guideline Prognostic IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH2 R140Q leukemia sensitive TETi76 Preclinical - Cell culture Actionable In a preclinical study, TETi76 treatment decreased viability of a leukemia cell line expressing IDH2 R140Q in culture (PMID: 33681816). 33681816
IDH2 R140Q hematologic cancer predicted - sensitive SH1573 Preclinical - Cell culture Actionable In a preclinical study, SH1573 treatment decreased 2-HG levels and increased differentiation of a tumor cell line expressing IDH2 R140Q in culture (PMID: 34221866). 34221866
IDH2 R140Q high grade glioma sensitive TQ05310 Preclinical - Cell culture Actionable In a preclinical study, TQ05310 treatment decreased 2-HG levels and increased differentiation in a glioma cell line expressing IDH2 R140Q in culture (PMID: 31361380). 31361380
IDH2 R140Q acute myeloid leukemia sensitive TQ05310 Preclinical - Cell culture Actionable In a preclinical study, TQ05310 treatment decreased 2-HG levels and increased differentiation in an acute myeloid leukemia cell line expressing IDH2 R140Q in culture (PMID: 31361380). 31361380