Metazoan complexes |
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Emili & Marcotte labs |
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Details of IDH2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| IDH2 | --- | P48735 | IDHP_HUMAN | 3418 | ENSG00000182054 | Isocitrate dehydrogenase [NADP], mitochondrial | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]: A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613657 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Idh2 | --- | idh-2 | Sp-Idh2 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
IDH2 | CS | 0.029615744 | IDH2 | CS | cpx126 | no | no | no | Novel |
IDH2 | IDH3A | 0.170179229 | IDH2 | IDH3A | cpx126 | no | no | no | Novel |
IDH2 | IDH3B | 0.221239806 | IDH2 | IDH3B | cpx126 | no | no | no | Novel |
IDH2 | IDH3G | 0.621537493 | IDH2 | IDH3G | cpx126 | no | no | no | Novel |
IDH2 | IDH1 | 0.268537849 | IDH2 | IDH1 | cpx126 | no | no | no | Novel |