Isocitrate dehydrogenase [NADP], mitochondrial (IDH2)
The protein contains 452 amino acids for an estimated molecular weight of 50909 Da.
Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
2-oxoglutarate metabolic process
Carbohydrate metabolic process
Glyoxylate cycle
Isocitrate metabolic process
NADP biosynthetic process
NADP metabolic process
Negative regulation of glial cell migration
Negative regulation of glial cell proliferation
Negative regulation of matrix metallopeptidase secretion
Tricarboxylic acid cycle
The reference OMIM entry for this protein is 137800
Glioma susceptibility 1; glm1 glioma of brain, familial, included; glm, included
Glioblastoma multiforme, included; gbm, included
Astrocytoma, included
Oligodendroglioma, included
Ependymoma, included
Subependymoma, included
A number sign (#) is used with this entry because glioma can develop as part of Li-Fraumeni syndrome-1 (LFS1; 151623), a cancer predisposition syndrome caused by mutation in the TP53 gene (191170) on chromosome 17p13.
DESCRIPTION
Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. - Genetic Heterogeneity of Susceptibility to Glioma Germline mutations predisposing to glioma have also been identified in the PTEN (601728) gene on chromosome 10q23.31 (GLM2; 613028) and in the BRCA2 gene (600185) on chromosome 13q12.3 (GLM3; 613029). Loci associated with susceptibility to glioma have been identified on chromosomes 15q23-q26.3 (GLM4; 607248), 9p21.3 (GLM5; 613030), 20q13.33 (GLM6; 613031), 8q24.21 (GLM7; 613032), and 5p15.33 (GLM8; 613033). Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.INHERITANCE
King and Eisinger (1966) described glioma multiforme of the frontal lobes in father and daughter with development of symptoms at age 50 and 34 years, respectively. Armstrong and Hanson (1969) described 3 sibs who died of brain glioma in adulthood. In a study of cancer mortality during childhood in sibs, Miller (1971) found 8 pairs of nontwin sibs with brain tumor versus 0.9 expected. There were 8 other families versus 0.9 expected in which 1 child died of brain tumor and another died of cancer of bone or muscle. Thuwe et al. (1979) observed 6 cases of brain glioma and a possible seventh on an isolated Swedish coastal island. The affected persons were related as cousins, all in different sibships. One instance of parental consanguinity, the lack of parent-child transmission, and the longtime isolation of the population suggest recessive inheritance. In further studies in this island community, Thuwe (1984) reported 4 closely related cases of brain tumor. It was found that 30 probands with brain tumor were more often the product of a consanguineous marriage than were controls and a higher proportion could be traced to a common ancestor living in the 1600s. It was concluded that genetic factors play a role, although a single major ... More on the omim web site
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 137800 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).