IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial [Homo sapiens] - Gene

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Summary

Official Symbol: IDH2provided by HGNC
Official Full Name: isocitrate dehydrogenase 2 (NADP+), mitochondrialprovided by HGNC
Primary source: HGNC:5383
See related: Ensembl:ENSG00000182054; HPRD:00973; MIM:147650; Vega:OTTHUMG00000149815
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IDH; IDP; IDHM; IDPM; ICD-M; D2HGA2; mNADP-IDH
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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q26.1

Sequence :: Chromosome: 15; NC_000015.9 (90627210..90645708, complement)

See IDH2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that TET2 and ASXL1 pathogenic mutations are found in 8% of myeloproliferative neoplasms lacking JAK2 and MPL mutations, whereas IDH1, IDH2, and c-CBL mutations are not detected in this subset of patients.
Title: TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms.
Data suggest that IDH1/2 mutations are recurrent but rare molecular aberrations in Chinese acute myeloid leukemia and myelodysplastic syndromes.
Title: IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.
in patients with secondary glioblastoma,IDH mutation, MGMT promoter methylation, and 1p19q codeletion were associated with prolonged progression-free survival in univariate and multivariate analysis;IDH mutation and MGMT promoter methylation were corre...
Title: IDH mutations predict longer survival and response to temozolomide in secondary glioblastoma.
study examined the phenotypic and prognostic effects of IDH1 and IDH2 mutations among 277 patients with myelodysplastic syndromes (MDS); IDH mutations were detected in 34 cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C); presence of IDH2R140...
Title: Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic study of 277 patients.
mechanisms of IDH mutations in gliomagenesis, and their value as diagnostic, prognostic marker and therapeutic target [review]
Title: Isocitrate dehydrogenase mutations in gliomas: mechanisms, biomarkers and therapeutic target.
Extraordinary high rates of somatic mutations in isocitrate dehydrogenase-1/2 occur in the majority of World Health Organization grade II and grade III gliomas as well as grade IV secondary glioblastomas[review]
Title: Analysis of isocitrate dehydrogenase-1/2 gene mutations in gliomas.
Mutations of IDH1 and IDH2 were found in 73 (29%) and 2 (1%) cases, respectively
Title: Significance of IDH mutations varies with tumor histology, grade, and genetics in Japanese glioma patients.
Introduction of either mutant IDH or cell-permeable 2HG was associated with repression of the inducible expression of lineage-specific differentiation genes and a block to differentiation.
Title: IDH mutation impairs histone demethylation and results in a block to cell differentiation.
Data show that the increased isocitrate dehydrogenase IDH2-dependent carboxylation of glutamine-derived alpha-ketoglutarate in hypoxia is associated with a concomitant increased synthesis of 2-hydroxyglutarate (2HG) in cells with wild-type IDH1 and IDH2.
Title: Hypoxia promotes isocitrate dehydrogenase-dependent carboxylation of α-ketoglutarate to citrate to support cell growth and viability.
catalyzes the oxidative decarboxylation of isocitrate into alpha-KG and its mutation have been frequently found in some types of gliomas. (review)
Title: [IDH1/2 mutations in gliomas].

Submit: New GeneRIF Correction See all (84)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

D-2-hydrosyglutaric aciduria 2

MIM: 613657

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P48735	P14672	SLC2A4		HPRD	PubMed
BioGRID:109644	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
NAD binding	IEA Inferred from Electronic Annotation more info
isocitrate dehydrogenase (NADP+) activity	EXP Inferred from Experiment more info
isocitrate dehydrogenase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info
magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
2-oxoglutarate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
carbohydrate metabolic process	NAS Non-traceable Author Statement more info	PubMed
glyoxylate cycle	IEA Inferred from Electronic Annotation more info
isocitrate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
small molecule metabolic process	TAS Traceable Author Statement more info
tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: isocitrate dehydrogenase [NADP], mitochondrial

Names: isocitrate dehydrogenase [NADP], mitochondrial; NADP(+)-specific ICDH; oxalosuccinate decarboxylase

NP_002159.2

EC 1.1.1.42

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023302.1 RefSeqGene

Range

5001..23499

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002168.2 → NP_002159.2 isocitrate dehydrogenase [NADP], mitochondrial precursor

Status: REVIEWED

Source sequence(s)

X69433

Consensus CDS

CCDS10359.1

UniProtKB/Swiss-Prot

P48735

Related

ENSP00000331897, OTTHUMP00000194691, ENST00000330062, OTTHUMT00000313426

Conserved Domains (1) summary

cl00445
Location:39 – 451
Blast Score: 2207

Iso_dh; Isocitrate/isopropylmalate dehydrogenase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

90627210..90645708, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

66738326..66745989, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087284.22	None
genomic	AC092769.7 (22499..38092)	None
genomic	CH471101.1	EAX02082.1
		EAX02083.1
genomic	HC895649.1	CBN62262.1
genomic	HC898572.1	CBN63691.1
mRNA	AK222916.1	BAD96636.1
mRNA	AK294148.1	BAG57473.1
mRNA	AK299987.1	BAG61808.1
mRNA	AK312627.1	BAG35513.1
mRNA	AK316388.1	BAH14759.1
mRNA	BC009244.2	AAH09244.1
mRNA	BC071828.1	AAH71828.1
mRNA	X69433.1	CAA49208.1
other-genetic	DQ892817.2	ABM83743.1
other-genetic	DQ896063.2	ABM87062.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P48735.2	GenPept	UniProtKB/Swiss-Prot:P48735
Q13584	GenPept	UniProtKB/TrEMBL:Q13584
Q53GL5	GenPept	UniProtKB/TrEMBL:Q53GL5