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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IDH2 Gene

protein-coding   GIFtS: 69
GCID: GC15M090626

Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for IDH2 Gene: 
IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial) is a protein-coding gene. Diseases associated with IDH2 include d-2-hydroxyglutaric aciduria 2, and d-2-hydrosyglutaric aciduria 2, and among its related super-pathways are Citric acid cycle (TCA cycle) and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010274.17  NC_018926.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IDH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48735

  • 4/24 DME Specific Peptides for IDH2 (P48735) (see all 24)
     EAAHGTV  PGWTKPI  IASIFAW  HGTVTRH 

    IDH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IDH2 Protein Expression
    REFSEQ proteins: NP_002159.2  
    ENSEMBL proteins: 
     ENSP00000331897   ENSP00000453254   ENSP00000453016   ENSP00000446147   ENSP00000438457  
    Reactome Protein details: P48735
    Human Recombinant Protein Products for IDH2: 
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    Cloud-Clone Corp. Proteins for IDH2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    IDH2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    IDH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    IDH2 for ontologies           About GeneDecksing


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

    IDH2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IDH2 
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    SwitchGear 3'UTR luciferase reporter plasmidIDH2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IDH2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    Citrate cycle (TCA cycle)0.58
    TCA Cycle0.89
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    5Glutathione metabolism
    Glutathione metabolism0.67

    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


    4        Reactome Pathways for IDH2
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport


    5/7         Kegg Pathways  (Kegg details for IDH2) (see all 7):
        Citrate cycle (TCA cycle)
    Glutathione metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism


    IDH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/56 Interacting proteins for IDH2 (P487353 ENSP000003318974) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096171P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    VARSP266403I2D: score=1 
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    ACO2Q997983, ENSP000002162544I2D: score=1 STRING: ENSP00000216254
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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--

    IDH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IDH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about IDH2 / IDHP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IDH2 gene: 
    NM_002168.2  

    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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    Additional mRNA sequence: 

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

    24/32 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 

    24/703 AceView cDNA sequences (see all 703):

    CR599284 BU859096 CR617370 AL542553 BE265404 BG177521 CR607159 F17554 
    AA311533 BM976222 BQ957435 BQ927664 BM509286 BX280660 BM456079 AI694006 
    AU142328 CR600938 CR597829 CR622745 CR610921 BM851799 CR617229 CA428680 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IDH2 expression in normal human tissues (normalized intensities)      IDH2 embryonic expression: see
    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 
     5/11 selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiac Fibroblasts Myocardium
             heart/ventricle   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Skeletal Muscle (Muscoskeletal System)
             deltoid muscle   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See IDH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IDH2

    SOURCE GeneReport for Unigene cluster: Hs.596461
        SABiosciences Expression via Pathway-Focused PCR Arrays including IDH2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IDH2 gene from 10/24 species (see all 24)    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 [NADP]
    89(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 AGAP003168-PA 70.57(n)
    74.39(a)
      1273838  XM_312860.4  XP_312860.4 
    worm
    (Caenorhabditis elegans)
    Secernentea C34F6.83
    idh-21
    Isocitrate and isopropylmalate
    dehydrogenases3
    Protein IDH-21
    70(a)
    (best of 2)3
    62.83(n)1
    69.01(a)1
      X(11251235-11253258)3
    1813111  NM_077474.41  NP_509875.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDP3(YNL009W)4
    IDP31
    Peroxisomal NADP-dependent isocitrate dehydrogenase, more4
    Idp3p1
    59.55(n)1
    62.78(a)1
      14(614821-616083)4
    8557231, 4  NP_014389.31  NP_014389.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ICDH1 isocitrate dehydrogenase 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)
    About This Section
    Paralogs for IDH2 gene
    IDH12  
    1 SIMAP similar gene for IDH2 using alignment to 5 protein entries:     IDHP_HUMAN (see all proteins):
    IDH1

    IDH2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/561 SNPs in IDH2 are shown (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
    5/8 SABiosciences Cancer Mutation PCR Assays for IDH2 (see all 8):
    Cosmic IdAA Change
    41875p.R140L
    41590p.R140Q
    34039p.R172W
    33732p.R172M
    41877p.R140W
    5/8 SABiosciences Cancer Mutation PCR Arrays 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/45 diseases for IDH2 (see all 45):    About MalaCards
    d-2-hydroxyglutaric aciduria 2    d-2-hydrosyglutaric aciduria 2    ollier disease    spindle cell hemangioma
    d-2-hydroxyglutaric aciduria    enchondroma    2-hydroxyglutaric aciduria    chondroma
    periostitis    paraganglioma    gliosarcoma    essential thrombocythemia
    spastic paraparesis    tropical spastic paraparesis    myelofibrosis    polycythemia vera
    polycythemia    acute myeloid leukemia    hemangioma    was-related disorders

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

    IDH2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for IDH2 gene, integrated from 9 sources (see all 179):
    (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 gliom a patients. (PubMed id 19765000)1, 4, 9 Sonoda Y....Tominaga T. (2009)
    2. Rapid and sensitive assessment of the IDH1 and IDH2 m utation status in cerebral gliomas based on DNA pyrosequencing. (PubMed id 20131059)1, 4, 9 Felsberg J....Reifenberger G. (2010)
    3. Type and frequency of IDH1 and IDH2 mutations are rel ated to astrocytic and oligodendroglial differentiation and age: a study of 1,0 10 diffuse gliomas. (PubMed id 19554337)1, 4, 9 Hartmann C....von Deimling A. (2009)
    4. Acute myeloid leukemia with IDH1 or IDH2 mutation: fr equency and clinicopathologic features. (PubMed id 21173122)1, 4 Patel K.P....Luthra R. (2011)
    5. Prognostic impact of isocitrate dehydrogenase enzyme isoforms 1 and 2 mutations in acute myeloid leukemia: a study by the Acute Leuk emia French Association group. (PubMed id 20625116)1, 4 Boissel N....Preudhomme C. (2010)
    6. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, J AK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes a nd acute myeloid leukemias. (PubMed id 20678218)1, 4 Rocquain J....Mozziconacci M.J. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Mutations of IDH1 and IDH2 genes in early and acceler ated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. (PubMed id 20376084)1, 4 Kosmider O....Fontenay M. (2010)
    9. A nonsense mutation of IDH1 in myelodysplastic syndro mes and related disorders. (PubMed id 20962861)1, 4 Yoshida K....Ogawa S. (2010)
    10. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. (PubMed id 20508616)1, 4 Tefferi A....Vannucchi A.M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3418 HGNC: 5383 AceView: IDH2 Ensembl:ENSG00000182054 euGenes: HUgn3418
    ECgene: IDH2 Kegg: 3418 H-InvDB: IDH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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