IDH2 isocitrate dehydrogenase (NADP(+)) 2
Gene ID: 3418, updated on 5-Mar-2024Gene type: protein coding
Also known as: IDH; IDP; IDHM; IDPM; ICD-M; IDH-2; D2HGA2; mNADP-IDH
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- Go to complete Gene record for IDH2
- Go to Variation Viewer for IDH2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
D-2-hydroxyglutaric aciduria 2 | See labs |
Genomic context
- Location:
- 15q26.1
- Sequence:
- Chromosome: 15; NC_000015.10 (90083045..90102468, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for IDH2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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