Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | IDH2 |
| Gene Name: | IDH2 |
| Protein Full Name: | Isocitrate dehydrogenase [NADP], mitochondrial |
| Alias: | ICD-M; IDH; IDHM; IDHP; IDP; Isocitrate dehydrogenase [NADP], mitochondrial; Isocitrate dehydrogenase 2 (NADP+) mitochondrial; NADP+-specific ICDH; Oxalosuccinate decarboxylase |
| Mass (Da): | 50909 |
| Number AA: | 452 |
| UniProt ID: | P48735 |
| Locus ID: | 3418 |
| COSMIC ID: | IDH2 |
| Gene location on chromosome: | 15q26.1 |
| Number of cancer specimens: | 56963 |
| Percent of cancer specimens with mutations: | 3.06 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Two main clusters at AA 140 and AA 172 with point mutations, and no complex mutations, insertions or deletions. |
| Commonly recorded point mutations: | R140Q (987); R172K (384) |
| Normal role description: | Metabolic enzyme. Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. |
| Commentary on involvement of protein in cancer: | Catalytic activity is Isocitrate + NADP+ = 2-oxoglutarate + CO2 + NADPH. Defects in IDH2 are the cause of D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657]. D2HGA2 is a neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. R140 and R172 may be in the substrate binding region. |