Human Gene IDH2 (ENST00000330062.8) from GENCODE V44
Description: Homo sapiens isocitrate dehydrogenase (NADP(+)) 2 (IDH2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002168) RefSeq Summary (NM_002168): Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. Gencode Transcript: ENST00000330062.8 Gencode Gene: ENSG00000182054.10 Transcript (Including UTRs) Position: hg38 chr15:90,083,045-90,102,468 Size: 19,424 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr15:90,084,266-90,102,390 Size: 18,125 Coding Exon Count: 11
ID:IDHP_HUMAN DESCRIPTION: RecName: Full=Isocitrate dehydrogenase [NADP], mitochondrial; Short=IDH; EC=1.1.1.42; AltName: Full=ICD-M; AltName: Full=IDP; AltName: Full=NADP(+)-specific ICDH; AltName: Full=Oxalosuccinate decarboxylase; Flags: Precursor; FUNCTION: Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. CATALYTIC ACTIVITY: Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH. COFACTOR: Binds 1 magnesium or manganese ion per subunit (By similarity). SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: 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. 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. SIMILARITY: Belongs to the isocitrate and isopropylmalate dehydrogenases family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48735
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000287 magnesium ion binding GO:0004448 isocitrate dehydrogenase activity GO:0004450 isocitrate dehydrogenase (NADP+) activity GO:0016491 oxidoreductase activity GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0046872 metal ion binding GO:0051287 NAD binding
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006097 glyoxylate cycle GO:0006099 tricarboxylic acid cycle GO:0006102 isocitrate metabolic process GO:0006103 2-oxoglutarate metabolic process GO:0006741 NADP biosynthetic process GO:0055114 oxidation-reduction process GO:0060253 negative regulation of glial cell proliferation GO:1903976 negative regulation of glial cell migration GO:1904465 negative regulation of matrix metallopeptidase secretion
US Server
