Gene Detail

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Gene Symbol IDH2
Synonyms D2HGA2 | ICD-M | IDH | IDHM | IDP | IDPM | mNADP-IDH
Gene Description IDH2, isocitrate dehydrogenase (NADP(+)) 2, is an enzyme that catalyzes the conversion of isocitrate to alpha-ketoglutarate (alpha-KG), and is involved in the tricarboxylic acid cycle (PMID: 28711227, PMID: 28980701). Mutations in IDH2 are associated with aberrant conversion of alpha-KG to 2-HG, which is an oncogenic metabolite, and are recurrent in acute myeloid leukemia and subtypes of glioma (PMID: 27621679, PMID: 19228619, PMID: 23999441).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
R140X missense unknown IDH2 R140X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 140 by a different amino acid. R140 variants are hotspot mutations in Idh2, which may confer a gain of function to the Idh2 protein resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 23071358, PMID: 27621679).
R172X missense unknown IDH2 R172X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 172 by a different amino acid. R172 variants are hotspot mutations in Idh2, which may confer a gain of function to Idh2 resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 28711227, PMID: 21326614, PMID: 25495392).
act mut unknown gain of function IDH2 act mut indicates that this variant results in a gain of function in the Idh2 protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function IDH2 inact mut indicates that this variant results in a loss of function of the Idh2 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown IDH2 mutant indicates an unspecified mutation in the IDH2 gene.
A416fs frameshift unknown IDH2 A416fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 416 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). A416fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Mar 2020).
D76fs frameshift loss of function - predicted IDH2 D76fs result in a change in the amino acid sequence of the Idh2 protein beginning at aa 76 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the substrate binding region and sites critical for catalysis (UniProt.org), D76fs is predicted to lead to a loss of Idh2 protein function.
G145fs frameshift loss of function - predicted IDH2 G145fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 145 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of sites critical for catalysis, G145fs is predicted to lead to a loss of Idh2 protein function (UniProt.org).
R353fs frameshift unknown IDH2 R353fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 353 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). R353fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Mar 2020).
T146fs frameshift loss of function - predicted IDH2 T146fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 146 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), T146fs is predicted to lead to a loss of Idh2 protein function.