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IDH2 isocitrate dehydrogenase (NADP(+)) 2 [ Homo sapiens (human) ]

Gene ID: 3418, updated on 3-Nov-2024

Summary

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Official Symbol
IDH2provided by HGNC
Official Full Name
isocitrate dehydrogenase (NADP(+)) 2provided by HGNC
Primary source
HGNC:HGNC:5383
See related
Ensembl:ENSG00000182054 MIM:147650; AllianceGenome:HGNC:5383
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; IDH-2; 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in heart (RPKM 100.1), kidney (RPKM 92.8) and 24 other tissues See more
Orthologs
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Genomic context

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See IDH2 in Genome Data Viewer
Location:
15q26.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90083045..90102468, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87839072..87858500, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90626277..90645700, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 710 Neighboring gene microRNA 3174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90581285-90581804 Neighboring gene Sharpr-MPRA regulatory region 12348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90585951-90586930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90597371-90598254 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90602135-90602846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6809 Neighboring gene ZNF710 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90627210-90627710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90627711-90628211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90630317-90631230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90634376-90634876 Neighboring gene NANOG hESC enhancer GRCh37_chr15:90638658-90639182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90644126-90644981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90644982-90645836 Neighboring gene IDH2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90664819-90665318 Neighboring gene Sharpr-MPRA regulatory region 4454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90686773-90687307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90701094-90701611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90701612-90702128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90704142-90704734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90704735-90705327 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90707039-90707194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90717667-90718167 Neighboring gene RNA, 7SL, cytoplasmic 346, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90721295-90722200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:90727462-90728195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90744110-90745081 Neighboring gene semaphorin 4B Neighboring gene ribosomal protein S12 pseudogene 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Enasidenib drives human erythroid differentiation independently of isocitrate dehydrogenase 2. Dutta R, et al. J Clin Invest, 2020 Apr 1. PMID 31895700, Free PMC Article
  2. Photoactivation of Mutant Isocitrate Dehydrogenase 2 Reveals Rapid Cancer-Associated Metabolic and Epigenetic Changes. Walker OS, et al. J Am Chem Soc, 2016 Jan 27. PMID 26761588, Free PMC Article
  3. Downregulation of IDH2 exacerbates the malignant progression of osteosarcoma cells via increased NF-κB and MMP-9 activation. Yi WR, et al. Oncol Rep, 2016 Apr. PMID 26782630
  4. Familial hematological malignancies: new IDH2 mutation. Hamadou WS, et al. Ann Hematol, 2016 Dec. PMID 27591990
  5. Recurrent IDH2 R172X mutations in sinonasal undifferentiated carcinoma. Jo VY, et al. Mod Pathol, 2017 May. PMID 28084339

See all (503) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IDH2 regulates U2AF1 expression and hydroxymethylation in MDS patients.
    Title: IDH2 regulates U2AF1 expression and hydroxymethylation in MDS patients.
  2. Differential isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 mutation-related landscape in intrahepatic cholangiocarcinoma.
    Title: Differential isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 mutation-related landscape in intrahepatic cholangiocarcinoma.
  3. Epigenetic dysregulation in cancers by isocitrate dehydrogenase 2 (IDH2).
    Title: Epigenetic dysregulation in cancers by isocitrate dehydrogenase 2 (IDH2).
  4. Methylation-Based Characterization of a New IDH2 Mutation in Sinonasal Undifferentiated Carcinoma.
    Title: Methylation-Based Characterization of a New IDH2 Mutation in Sinonasal Undifferentiated Carcinoma.
  5. IDH2/R140Q mutation confers cytokine-independent proliferation of TF-1 cells by activating constitutive STAT3/5 phosphorylation.
    Title: IDH2/R140Q mutation confers cytokine-independent proliferation of TF-1 cells by activating constitutive STAT3/5 phosphorylation.
  6. Isocitrate dehydrogenase 2 regulates the proliferation of triple-negative breast cancer through the ferroptosis pathway.
    Title: Isocitrate dehydrogenase 2 regulates the proliferation of triple-negative breast cancer through the ferroptosis pathway.
  7. Clinical and imaging characteristics of supratentorial glioma with IDH2 mutation.
    Title: Clinical and imaging characteristics of supratentorial glioma with IDH2 mutation.
  8. Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients.
    Title: Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients.
  9. IDH2 mutations in acute myeloid leukemia.
    Title: IDH2 mutations in acute myeloid leukemia.
  10. The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
    Title: The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
Submit: New GeneRIF Correction See all GeneRIFs (406)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
D-2-hydroxyglutaric aciduria 2
MedGen: C3150909 OMIM: 613657 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of isocitrate dehydrogenase 2 (IDH2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables isocitrate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables isocitrate dehydrogenase (NADP+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables isocitrate dehydrogenase (NADP+) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables isocitrate dehydrogenase (NADP+) activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in NADP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in glyoxylate cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in isocitrate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
isocitrate dehydrogenase [NADP], mitochondrial
Names
NADP(+)-specific ICDH
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
isocitrate dehydrogenase 2 (NADP+), mitochondrial
oxalosuccinate decarboxylase
NP_001276839.1
NP_001277043.1
NP_002159.2

NCBI Reference Sequences (RefSeq)

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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

  1. NG_023302.1 RefSeqGene

    Range
    4923..23499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_611

mRNA and Protein(s)

  1. NM_001289910.1 → NP_001276839.1  isocitrate dehydrogenase [NADP], mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001276839.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK294148, BC009244
    Consensus CDS
    CCDS76792.1
    UniProtKB/TrEMBL
    Q53GL5
    Related
    ENSP00000446147.2, ENST00000540499.2
    Conserved Domains (1) summary
    PTZ00435
    Location:1 → 399
    PTZ00435; isocitrate dehydrogenase; Provisional

  2. NM_001290114.2 → NP_001277043.1  isocitrate dehydrogenase [NADP], mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001277043.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC087284, AK299987, X69433
    UniProtKB/TrEMBL
    B4DSZ6
    Conserved Domains (1) summary
    cl00445
    Location:1 → 321
    Iso_dh; Isocitrate/isopropylmalate dehydrogenase

  3. NM_002168.4 → NP_002159.2  isocitrate dehydrogenase [NADP], mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002159.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC087284, AK312627, X69433
    Consensus CDS
    CCDS10359.1
    UniProtKB/Swiss-Prot
    B2R6L6, B4DFL2, P48735, Q96GT3
    UniProtKB/TrEMBL
    Q53GL5
    Related
    ENSP00000331897.4, ENST00000330062.8
    Conserved Domains (1) summary
    PTZ00435
    Location:39 → 451
    PTZ00435; isocitrate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    90083045..90102468 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    87839072..87858500 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48735.2 GenPept UniProtKB/Swiss-Prot:P48735

Gene LinkOut

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