InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IDH2

Summary

InnateDB Protein

IDBP-29826.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IDH2

Protein Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms

D2HGA2; ICD-M; IDH; IDHM; IDP; IDPM; mNADP-IDH;

Species

Homo sapiens

Ensembl Protein

ENSP00000331897

InnateDB Gene

IDBG-29824 (IDH2)

Protein Structure

UniProt Annotation

Function

Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

Subcellular Localization

Mitochondrion.

Disease Associations

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. {ECO:0000269PubMed:20847235}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0004450	isocitrate dehydrogenase (NADP+) activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
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:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process