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

IDH2 Gene

protein-coding   GIFtS: 66
GCID: GC15M090626

isocitrate dehydrogenase 2 (NADP+), mitochondrial
 Explore 46 diseases affiliated with
IDH2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IDH2    

Aliases
for IDH2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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-IDH1

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


Summaries
for IDH2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
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 plasmid: IDH2 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: 15q21-qter

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

Proteins
for IDH2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
Secondary accessions: B2R6L6 Q96GT3

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002159.2  
    ENSEMBL proteins: 
     ENSP00000331897   ENSP00000453254   ENSP00000453016   ENSP00000446147   ENSP00000438457  
    Reactome Protein details: P48735
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for IDH2

    Protein Domains /
    Families
    for IDH2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IDH2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001804 Isocitrate/isopropylmalate dehydrogenase

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


    Function
    for IDH2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    8/15 QIAGEN miScript miRNA 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 plasmid: IDH2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IDH2 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 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:0051287NAD binding IEA--


    IDH2 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Idh2 (no phenotypes)

    IDH2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for IDH2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Peroxisome
    		Peroxisome1.00
    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 metabolism0.70

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    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


    4         Kegg Pathways  (Kegg details for IDH2):
        Citrate cycle (TCA cycle)
    Glutathione metabolism
    Metabolic pathways
    Peroxisome


    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)

    5/54 Interacting proteins for IDH2 (P487353 ENSP000003318974) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    ACO2Q997983, ENSP000002162544I2D: score=1 STRING: ENSP00000216254
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    IDH3AP502133, ENSP000002995184I2D: score=1 STRING: ENSP00000299518
    TP53RKQ96S443I2D: score=4 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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



    Drugs & Compounds
    for IDH2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for IDH2

    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 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 

    Transcripts
    for IDH2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    8/15 QIAGEN miScript miRNA 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 plasmid: IDH2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IDH2 (see all 7)
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    Additional cDNA 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):

    BQ052221 CR610676 CR617370 BQ920579 CR606745 AL573410 CR598530 CR622745 
    BF312126 AI873777 CR595435 BG397409 AI128575 BM547834 CR600938 BE265404 
    AU132496 N67429 AA156483 CR613707 F17554 AA371843 BQ688929 CR593087 

    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

    Expression
    for IDH2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCCATATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IDH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumCardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    Orthologs
    for IDH2 gene

    (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 10/33 species (see all 33)    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
    		 --
    		 89(a)
    		 1 ↔ 1
    		 AAWZ02035329(6247-25046)
    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
    for IDH2 gene

    (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



    Genomic Variants
    for IDH2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/445 NCBI SNPs in IDH2 are shown (see all 445)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219135021,2
    		Cpathogenic90631934(-) TATCCA/GGAACA 2 Q R mis10--------
    rs786437651,2
    		C,--90626724(+) TGAACC/GCAAGC 1 -- ds50010--------
    rs1122079771,2
    		C,--90626733(+) GCCTGG/AGAACT 1 -- ds50012Minor allele frequency- A:0.04NA 122
    rs1905159481,2
    		--90626752(+) AGACAA/TTGCAG 1 -- ds50010--------
    rs1827210701,2
    		--90627003(+) GGGAAC/TCCACA 1 -- ds50010--------
    rs760662371,2
    		F,--90627095(+) GCCGTG/AGCAGC 1 -- ds50011Minor allele frequency- A:0.17EA 120
    rs1443495321,2
    		--90627097(+) CGTGGA/CAGCCC 1 -- ds50010--------
    rs1142272661,2
    		C,--90627354(+) ATATGC/TTTTTA 1 -- ut310--------
    rs1158309691,2
    		F,--90627429(+) CCCTCT/CGCCGC 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs1180539401,2
    		C,F,--90627553(+) AGTCCG/ATGGTG 2 /T /M mis13Minor allele frequency- A:0.00NA EU 5911

    HapMap Linkage Disequilibrium report for IDH2 (90626277 - 90645736 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for IDH2
         5 CNVs: 77066 8803 3976 3094 37691
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IDH2
    DNA2.0 Custom Variant and Variant Library Synthesis for IDH2

    Disorders / Diseases
    for IDH2 gene

    (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.)
    About This Section
    IDH2 for disorders           About GeneDecksing

    OMIM gene information: 147650   
    OMIM disorders: 613657  
    UniProtKB/Swiss-Prot: IDHP_HUMAN, P48735
  • Defects in IDH2 are the cause of D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657]. D2HGA2 is 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

    20/46 diseases for IDH2 (see all 46):    About MalaCards
    d-2-hydrosyglutaric aciduria 2    d-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria    tropical spastic paraparesis
    spindle cell hemangioma    polycythemia vera    spastic paraparesis    essential thrombocythemia
    enchondroma    ollier disease    paraganglioma    myeloid leukemia
    chondroma    polycythemia    acute myeloid leukemia    chronic myeloid leukemia
    hemangioma    periostitis    malignant glioma    was-related disorders

    3 diseases from the University of Copenhagen DISEASES database for IDH2:
    Malignant glioma     Acute myeloid leukemia     D-2-hydroxyglutaric aciduria

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: IDH2 (34 documents)

    Export disorders for IDH2 gene to outside databases

    Publications
    for IDH2 gene

    (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 152):
    (articles sorted by number of sources associating them with IDH2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. IDH2 mutations in patients with D-2-hydroxyglutaric a ciduria. (PubMed id 20847235)1, 2 Kranendijk M....Salomons G.S. (2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. (PubMed id 20368543)1, 9 Marcucci G....Bloomfield C.D. (2010)
    4. Analysis of IDH1 and IDH2 mutations in Japanese gliom a patients. (PubMed id 19765000)1, 9 Sonoda Y....Tominaga T. (2009)
    5. IDH1 and IDH2 mutations in gliomas. (PubMed id 19228619)1, 9 Yan H....Bigner D.D. (2009)
    6. Rapid and sensitive assessment of the IDH1 and IDH2 m utation status in cerebral gliomas based on DNA pyrosequencing. (PubMed id 20131059)1, 9 Felsberg J....Reifenberger G. (2010)
    7. 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, 9 Hartmann C....von Deimling A. (2009)
    8. The common feature of leukemia-associated IDH1 and ID H2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. (PubMed id 20171147)1, 9 Ward P.S....Thompson C.B. (2010)
    9. Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissues. (PubMed id 19915484)1, 9 Horbinski C....Nikiforova M.N. (2009)
    10. Expression of human mitochondrial NADP-dependent isocitrate dehydrogenase during lymphocyte activation. (PubMed id 8707889)1, 9 Luo H.... Wu J. (1996)

    External Searches for IDH2 gene

    (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)

    Genome Databases showing IDH2 gene

    (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

    Other Databases showing IDH2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IDH2 gene

    (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

    Intellectual Property
    for IDH2 gene

    (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



    Products
    for IDH2 gene

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    Advanced Cell Diagnostics
    About This Section

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