Version 2.76


The IDH2 (isocitrate dehydrogenase 2, mitochondrial) gene [HGNC Gene ID:5383] is located on chromosome 15 at 15q26.1. The IDH2 gene encodes the isocitrate dehydrogenase 2 enzyme found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH2 gene are associated with various conditions, including 2-hydroxyglutaric aciduria, Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, and gliomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH2] Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
IDH2 gene exon 4
Part Type
Component (Describes the core component or analyte measured)
Created On
Construct for LOINC Short Name
IDH2 exon 4

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Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Exón 4 del gen IDH2
zh-CN Chinese (China) IDH2 基因外显子 4
it-IT Italian (Italy) IDH2, esone 4 gene
Synonyms: Gene IDH2 esone 4
nl-NL Dutch (Netherlands) IDH2-gen exon 4