Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.1.1.42
Oxidoreductases;
Acting on the CH-OH group of donors;
With NAD+ or NADP+ as acceptor;
isocitrate dehydrogenase (NADP+)
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 4JA8 | 1.55 | Complex of Mitochondrial Isocitrate Dehydrogenase R140Q Mutant with AGI-6780 Inhibitor |
| 5GIS | 1.93 | Crystal structure of a Fab fragment with its ligand peptide |
| 5I95 | 1.54 | Crystal Structure of Human Mitochondrial Isocitrate Dehydrogenase R140Q Mutant Homodimer bound to NADPH and alpha-Ketoglutaric acid |
| 5I96 | 1.55 | Crystal Structure of Human Mitochondrial Isocitrate Dehydrogenase (IDH2) R140Q Mutant Homodimer in Complex with AG-221 (Enasidenib) Inhibitor. |
| 5SVN | 2.1 | Structure of IDH2 mutant R172K |
| 5SVO | 1.87 | Structure of IDH2 mutant R140Q |
| 6ADI | 1.969 | Crystal Structures of IDH2 R140Q in complex with AG-881 |
| 6UJ7 | 1.9 | Crystal structure of HLA-B*07:02 with R140Q mutant IDH2 peptide |
| 6UJ8 | 2.25 | Crystal structure of HLA-B*07:02 with wild-type IDH2 peptide |
| 6UJ9 | 2.9 | Crystal structure of HLA-B*07:02 with R140Q mutant IDH2 peptide in complex with Fab |
| 6VFZ | 1.99 | Crystal Structure of Human Mitochondrial Isocitrate Dehydrogenase (IDH2) R140Q Mutant Homodimer in Complex with NADPH and AG-881 (Vorasidenib) Inhibitor. |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006103 | 2-oxoglutarate metabolic process |
| Biological Process | GO:0006739 | NADP metabolic process |
| Biological Process | GO:0005975 | carbohydrate metabolic process |
| Biological Process | GO:0006097 | glyoxylate cycle |
| Biological Process | GO:0006102 | isocitrate metabolic process |
| Biological Process | GO:0006099 | tricarboxylic acid cycle |
| Molecular Function | GO:0051287 | NAD binding |
| Molecular Function | GO:0004450 | isocitrate dehydrogenase (NADP+) activity |
| Molecular Function | GO:0000287 | magnesium ion binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005777 | peroxisome |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2151201 | Transcriptional activation of mitochondrial biogenesis | Leaf | R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-71403 | Citric acid cycle (TCA cycle) | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000826 | Precocious puberty |
| HP:0000853 | Goiter |
| HP:0000926 | Platyspondyly |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001028 | Hemangioma |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001387 | Joint stiffness |
| HP:0001482 | Subcutaneous nodule |
| HP:0001510 | Growth delay |
| HP:0001638 | Cardiomyopathy |
| HP:0001903 | Anemia |
| HP:0001928 | Abnormality of coagulation |
| HP:0002015 | Dysphagia |
| HP:0002650 | Scoliosis |
| HP:0002653 | Bone pain |
| HP:0002664 | Neoplasm |
| HP:0002757 | Recurrent fractures |
| HP:0002763 | Abnormal cartilage morphology |
| HP:0002797 | Osteolysis |
| HP:0002893 | Pituitary adenoma |
| HP:0002897 | Parathyroid adenoma |
| HP:0002983 | Micromelia |
| HP:0003002 | Breast carcinoma |
| HP:0004322 | Short stature |
| HP:0004936 | Venous thrombosis |
| HP:0005701 | Multiple enchondromatosis |
| HP:0006765 | Chondrosarcoma |
| HP:0006824 | Cranial nerve paralysis |
| HP:0007461 | Hemangiomatosis |
| HP:0009592 | Astrocytoma |
| HP:0012321 | D-2-hydroxyglutaric aciduria |
| HP:0040146 | D-2-hydroxyglutaric acidemia |
| HP:0100021 | Cerebral palsy |
| HP:0100242 | Sarcoma |
| HP:0100615 | Ovarian neoplasm |
| HP:0100641 | Neoplasm of the adrenal cortex |
| HP:0100733 | Neoplasm of the parathyroid gland |
| HP:0100761 | Visceral angiomatosis |
| HP:0100764 | Lymphangioma |
| HP:0100777 | Exostoses |
| HP:0200042 | Skin ulcer |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| ollier disease | MONDO:0008145 | Q78 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:166000 | Orphanet:296 |
| d-2-hydroxyglutaric aciduria 2 | MONDO:0013345 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:613657 | |
| maffucci syndrome | MONDO:0013808 | Q78 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614569 | Orphanet:163634 |
| glioma susceptibility 1 | MONDO:0024498 | C71 | chapter2, Neoplasms | OMIM:137800 | Orphanet:251627 |
| glioma susceptibility 1 | MONDO:0024498 | C71 | chapter2, Neoplasms | OMIM:137800 | Orphanet:251630 |
| glioma susceptibility 1 | MONDO:0024498 | C71 | chapter2, Neoplasms | OMIM:137800 | Orphanet:301 |
| glioma susceptibility 1 | MONDO:0024498 | C71 | chapter2, Neoplasms | OMIM:137800 | Orphanet:360 |
| glioma susceptibility 1 | MONDO:0024498 | C71 | chapter2, Neoplasms | OMIM:137800 | Orphanet:94 |