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IDH2 Gene

protein-coding   GIFtS: 70
GCID: GC15M090626

Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial

  See IDH2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial1 2     EC 1.1.1.423 8
Oxalosuccinate Decarboxylase2 3     D2HGA22 5
ICD-M2 3     IDPM2 5
IDH2 3     IDHM2
IDP2 3     Isocitrate Dehydrogenase [NADP], Mitochondrial2
NADP(+)-Specific ICDH2 3     mNADP-IDH2

External Ids:    HGNC: 53831   Entrez Gene: 34182   Ensembl: ENSG000001820547   OMIM: 1476505   UniProtKB: P487353   

Export aliases for IDH2 gene to outside databases

Previous GC identifers: GC15M087031 GC15M084133 GC15M088213 GC15M088356 GC15M088428 GC15M066740


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IDH2 Gene:
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)

GeneCards Summary for IDH2 Gene:
IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial) is a protein-coding gene. Diseases associated with IDH2 include interval angle-closure glaucoma, and spindle cell hemangioma. GO annotations related to this gene include isocitrate dehydrogenase (NADP+) activity and magnesium ion binding. An important paralog of this gene is IDH1.

UniProtKB/Swiss-Prot: IDHP_HUMAN, P48735
Function: Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with
the pyruvate dehydrogenase complex

Gene Wiki entry for IDH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the IDH2 gene promoter:
         AhR   NF-1   NF-1/L   AML1a   MAZR   MZF-1   Ik-2   Sox9   En-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIDH2 promoter sequence
   Search Chromatin IP Primers for IDH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IDH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

IDH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDH2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090626:  view genomic region     (about GC identifiers)

Start:
90,626,277 bp from pter      End:
90,645,736 bp from pter
Size:
19,460 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IDHP_HUMAN, P48735 (See protein sequence)
Recommended Name: Isocitrate dehydrogenase [NADP], mitochondrial precursor  
Size: 452 amino acids; 50909 Da
Cofactor: Binds 1 magnesium or manganese ion per subunit (By similarity)
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for IDH2:
4JA8 (3D)    
Secondary accessions: B2R6L6 Q96GT3

Explore the universe of human proteins at neXtProt for IDH2: NX_P48735

Explore proteomics data for IDH2 at MOPED

Post-translational modifications: 

  • Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT31
  • Ubiquitination2 at Lys166, Lys272
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IDH2 (P48735) (see all 24)
     EAAHGTV  PGWTKPI  IASIFAW  HGTVTRH 


    See IDH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001276839.1  NP_001277043.1  NP_002159.2  

    ENSEMBL proteins: 
     ENSP00000331897   ENSP00000453254   ENSP00000453016   ENSP00000446147   ENSP00000438457  
    Reactome Protein details: P48735

    IDH2 Human Recombinant Protein Products:

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    Novus Biologicals IDH2 Proteins
    Novus Biologicals IDH2 Lysate
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    Cloud-Clone Corp. Proteins for IDH2

     
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    antibodies-online proteins for IDH2 (9 products) 

     
    antibodies-online peptides for IDH2

    IDH2 Antibody Products:

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    Cloud-Clone Corp. ELISAs for IDH2
    Cloud-Clone Corp. CLIAs for IDH2
    Search eBioscience for ELISAs for IDH2 
    antibodies-online kits for IDH2 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR004790 Isocitrate_DH_NADP
     IPR019818 IsoCit/isopropylmalate_DH_CS
     IPR024084 IsoPropMal-DH-like_dom

    Graphical View of Domain Structure for InterPro Entry P48735

    ProtoNet protein and cluster: P48735

    1 Blocks protein domain: IPB001804 Isocitrate/isopropylmalate dehydrogenase

    UniProtKB/Swiss-Prot: IDHP_HUMAN, P48735
    Similarity: Belongs to the isocitrate and isopropylmalate dehydrogenases family


    Find genes that share domains with IDH2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IDHP_HUMAN, P48735
    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

         Genatlas biochemistry entry for IDH2:
    isocitrate dehydrogenase 2,mitochrondrial matrix,NADPH dependent,46.5 kDa,catalyzing the third step of citric acid
    cycle

         Enzyme Number (IUBMB): EC 1.1.1.421 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ISS--
    GO:0004450isocitrate dehydrogenase (NADP+) activity ISS--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0051287NAD binding IEA--
         
    Find genes that share ontologies with IDH2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Idh2 (no phenotypes)

    Find genes that share phenotypes with IDH2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for IDH2

    miRNA
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    miRTarBase miRNAs that target IDH2:
    hsa-mir-26b-5p (MIRT029275), hsa-mir-183-5p (MIRT007339), hsa-mir-1260b (MIRT052706)

    Block miRNA regulation of human, mouse, rat IDH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IDH2 (see all 15):
    hsa-miR-98 hsa-miR-3611 hsa-let-7d hsa-miR-202 hsa-miR-183 hsa-let-7c hsa-let-7i hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidIDH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IDH2

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IDH2

    Cell Line
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    eBioscience FlowRNA Probe Sets ( VA1-12269) for IDH2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IDHP_HUMAN, P48735: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast2
    cytosol2
    peroxisome2
    plasma membrane2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1
    nucleus1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with IDH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IDH2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    5Glutathione metabolism
    Glutathione metabolism0.65


    Find genes that share SuperPaths with IDH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IDH2
        Glucose / Energy Metabolism

    1 BioSystems Pathway for IDH2
        TCA Cycle


    1 Reactome Pathway for IDH2
        Citric acid cycle (TCA cycle)


    Selected Kegg Pathways  (Kegg details for IDH2) (see all 7):
        Citrate cycle (TCA cycle)
    Glutathione metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IDH2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for IDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IDH2 (P487353 ENSP000003318974) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    VARSP266403I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS8954790
    GO:0006097glyoxylate cycle IEA--
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006102isocitrate metabolic process ISS--
    GO:00061032-oxoglutarate metabolic process ISS--

    Find genes that share ontologies with IDH2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IDH2 (IDHP)

    8 HMDB Compounds for IDH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Isocitric acid1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)320-77-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Oxalosuccinic acidOxalosuccinate (see all 2)1948-82-9--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--

    1 DrugBank Compound for IDH2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Isocitric Acid-- 320-77-4target--17139284 17016423 10592235

    2 Novoseek inferred chemical compound relationships for IDH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isocitrate 93.6 25 17075901 (2), 19996293 (2), 19915484 (1), 20130071 (1) (see all 18)
    pyruvate 23.1 2 8318002 (1), 2210862 (1)



    Find genes that share compounds with IDH2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IDH2 gene (3 alternative transcripts): 
    NM_001289910.1  NM_001290114.1  NM_002168.3  

    Unigene Cluster for IDH2:

    Isocitrate dehydrogenase 2 (NADP+), mitochondrial
    Hs.596461  [show with all ESTs]
    Unigene Representative Sequence: X69433
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330062(uc010uqb.2 uc002box.3 uc010uqc.2) ENST00000560061
    ENST00000559482 ENST00000540499 ENST00000539790
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IDH2 (see all 15):
    hsa-miR-98 hsa-miR-3611 hsa-let-7d hsa-miR-202 hsa-miR-183 hsa-let-7c hsa-let-7i hsa-let-7g
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    Primer
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    Additional mRNA sequence: 

    AK222916.1 AK294148.1 AK299987.1 AK312627.1 AK316388.1 BC009244.2 BC071828.1 X69433.1 

    Selected DOTS entries (see all 32):

    DT.448959  DT.100808539  DT.92065665  DT.121027184  DT.121027328  DT.100649521  DT.100649506  DT.100649523 
    DT.100649536  DT.91766554  DT.95371733  DT.121027360  DT.95371734  DT.91808314  DT.100649511  DT.100649533 
    DT.121027162  DT.121027172  DT.121027397  DT.121632379  DT.75168204  DT.86841012  DT.100649520  DT.100649527 

    Selected AceView cDNA sequences (see all 703):

    BQ688929 BE894493 BM852091 BX283585 BM978302 CR610921 BU616417 CF994762 
    CF994170 BQ067405 CR616318 AA573936 N67429 AI082349 BU859096 CR619261 
    AI873777 BM723453 CR619410 BI915199 AW169592 AA311533 CR625291 BQ927664 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IDH2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:              -     -           -           -     -                                                         
    SP2:              -     -           -           -                                                               
    SP3:              -     -           -                                                                           
    SP4:              -                 -                                                                           
    SP5:              -     -                                                                                       


    ECgene alternative splicing isoforms for IDH2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    IDH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCATATT
    IDH2 Expression
    About this image


    IDH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Eye (Sensory Organs)
             Lens
     
     Skeletal Muscle (Muscoskeletal System)
    IDH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IDH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596461
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IDH2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IDH2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IDH2 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Idh21 , 5 isocitrate dehydrogenase 2 (NADP+), mitochondrial1, 5 89.97(n)1
    95.13(a)1
      7 (45.43 cM)5
    2699511  NM_173011.21  NP_766599.21 
     800948465 
    chicken
    (Gallus gallus)
    Aves IDH21 isocitrate dehydrogenase 2 (NADP+), mitochondrial 83.22(n)
    89.26(a)
      431056  NM_001031599.1  NP_001026770.1 
    lizard
    (Anolis carolinensis)
    Reptilia IDH26
    isocitrate dehydrogenase 2 (NADP+), mitochondrial
    88(a)
    1 ↔ 1
    AAWZ02035329(6247-25050)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046379.12   -- 77.91(n)    BC046379.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb33c062 wufb33c06 80.37(n)   321734  BC063967.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0031681 AgaP_AGAP003168 68.51(n)
    71.49(a)
      1273838  XM_312860.5  XP_312860.5 
    worm
    (Caenorhabditis elegans)
    Secernentea C34F6.83
    idh-21
    Isocitrate and isopropylmalate
    dehydrogenases3
    idh-21
    70(a)
    (best of 2)3
    62.83(n)1
    69.01(a)1
      X(11251235-11253258)3
    1813111  NM_077474.51  NP_509875.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDP3(YNL009W)4
    IDP21
    Peroxisomal NADP-dependent isocitrate dehydrogenase, more4
    IDP21
    60.1(n)1
    64.84(a)1
      14(614821-616083)4
    8508711  NP_013275.11  8557234 
     NP_014389.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ICDH1 ICDH 64.04(n)
    68.97(a)
      841875  NM_104312.2  NP_175836.1 
    rice
    (Oryza sativa)
    Liliopsida Os.23262 Oryza sativa NADP-specific isocitrate dehydrogenase more 78.77(n)    AF155334.1 


    ENSEMBL Gene Tree for IDH2 (if available)
    TreeFam Gene Tree for IDH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IDH2 gene
    IDH12  
    1 SIMAP similar gene for IDH2 using alignment to 5 protein entries:     IDHP_HUMAN (see all proteins):
    IDH1

    Find genes that share paralogs with IDH2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IDH2 (see all 561)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651754
    D-2-hydroxyglutaric aciduria 2 (D2HGA2)4--see VAR_0651752 R Q mis40--------
    VAR_0651744
    D-2-hydroxyglutaric aciduria 2 (D2HGA2)4--see VAR_0651742 R G mis40--------
    rs1219135021,2
    Cpathogenic170356441(-) TATCCA/GGAACA 2 Q R mis10--------
    rs786437651,2
    C--70351231(+) TGAACC/GCAAGC 1 -- ds50010--------
    rs1122079771,2
    C,F--70351240(+) GCCTGG/AGAACT 1 -- ds50012Minor allele frequency- A:0.04NA 122
    rs1905159481,2
    C--70351259(+) AGACAA/TTGCAG 1 -- ds50010--------
    rs1827210701,2
    --70351510(+) GGGAAC/TCCACA 1 -- ds50010--------
    rs760662371,2
    C,F--70351602(+) GCCGTG/AGCAGC 1 -- ds50011Minor allele frequency- A:0.17EA 120
    rs1443495321,2
    --70351604(+) CGTGGA/CAGCCC 1 -- ds50010--------
    rs1142272661,2
    C--70351861(+) ATATGC/TTTTTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for IDH2 (90626277 - 90645736 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IDH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv112e55CNV Gain17911159
    nsv904486CNV Gain21882294
    nsv442384CNV CNV18776908
    dgv776e1CNV Complex17122850
    dgv777e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): IDH2
    Selected Site Specific Mutation Identification with PCR Assays for IDH2 (see all 8):
    Cosmic IdAA Change
    41875p.R140L
    41590p.R140Q
    34039p.R172W
    33732p.R172M
    41877p.R140W
    Selected Site Specific Cancer Mutation PCR Panels containing IDH2 (see all 8):
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Myelodysplastic Syndromes
    Brain Cancers
    SeqTarget long-range PCR primers for resequencing IDH2
    DNA2.0 Custom Variant and Variant Library Synthesis for IDH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147650   
    OMIM disorders: 613657  
    UniProtKB/Swiss-Prot: IDHP_HUMAN, P48735
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for IDH2:    
    About MalaCards
    interval angle-closure glaucoma    spindle cell hemangioma    enchondroma    intracranial chondrosarcoma
    d-2-hydroxyglutaric aciduria 2    vaginal discharge    intraductal papilloma    d-2-hydroxyglutaric aciduria
    chondroblastic osteosarcoma    ollier disease    cytogenetically normal acute myeloid leukemia    2-hydroxyglutaric aciduria
    angioimmunoblastic t-cell lymphoma    chondroma    pheochromocytoma    gliosarcoma
    acute myeloid leukemia

    5 diseases from the University of Copenhagen DISEASES database for IDH2:
    Malignant glioma     Intraductal papilloma     Leukemia     D-2-hydroxyglutaric aciduria
    Interval angle-closure glaucoma

    Find genes that share disorders with IDH2           About GenesLikeMe

    5 Novoseek inferred disease relationships for IDH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioblastoma 49.8 8 20171178 (3), 19765000 (1), 20131059 (1)
    paraganglioma 48.2 4 20130071 (3), 19915015 (1)
    glioma 38.4 10 20131059 (4), 19765000 (3), 19554337 (2), 19228619 (2) (see all 6)
    pheochromocytoma 30 4 20130071 (3), 19915015 (1)
    tumors 6.27 9 19554337 (2), 20130071 (2), 20171178 (2), 19228619 (2) (see all 9)

    Genetic Association Database (GAD): IDH2
    Human Genome Epidemiology (HuGE) Navigator: IDH2 (34 documents)

    Export disorders for IDH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IDH2 gene, integrated from 10 sources (see all 192):
    (articles sorted by number of sources associating them with IDH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PubMed id 19765000)1, 4, 9 Sonoda Y....Tominaga T. (Cancer Sci. 2009)
    2. Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. (PubMed id 20131059)1, 4, 9 Felsberg J....Reifenberger G. (Acta Neuropathol. 2010)
    3. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. (PubMed id 19554337)1, 4, 9 Hartmann C....von Deimling A. (Acta Neuropathol. 2009)
    4. SIRT3 protein deacetylates isocitrate dehydrogenase 2 (IDH2) and regulates mitochondrial redox status. (PubMed id 22416140)1, 2 Yu W....Denu J.M. (J. Biol. Chem. 2012)
    5. A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders. (PubMed id 20962861)1, 4 Yoshida K....Ogawa S. (Leukemia 2011)
    6. Acute myeloid leukemia with IDH1 or IDH2 mutation: frequency and clinicopathologic features. (PubMed id 21173122)1, 4 Patel K.P....Luthra R. (Am. J. Clin. Pathol. 2011)
    7. Prognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leukemia French Association group. (PubMed id 20625116)1, 4 Boissel N....Preudhomme C. (J. Clin. Oncol. 2010)
    8. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. (PubMed id 20678218)1, 4 Rocquain J....Mozziconacci M.J. (BMC Cancer 2010)
    9. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    10. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. (PubMed id 20376084)1, 4 Kosmider O....Fontenay M. (Leukemia 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3418 HGNC: 5383 AceView: IDH2 Ensembl:ENSG00000182054 euGenes: HUgn3418
    ECgene: IDH2 Kegg: 3418 H-InvDB: IDH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IDH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IDH2 gene:
    Search GeneIP for patents involving IDH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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