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Aliases for IDH2 Gene

Aliases for IDH2 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial 2 3
  • Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial 2 3 5
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 63
  • ICD-M 3 4
  • IDH 3 4
  • IDP 3 4
  • MNADP-IDH 3
  • D2HGA2 3
  • IDHM 3
  • IDPM 3

External Ids for IDH2 Gene

Previous GeneCards Identifiers for IDH2 Gene

  • GC15M087031
  • GC15M084133
  • GC15M088213
  • GC15M088356
  • GC15M088428
  • GC15M090626
  • GC15M066740

Summaries for IDH2 Gene

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 (NADP(+)) 2, Mitochondrial) is a Protein Coding gene. Diseases associated with IDH2 include d-2-hydroxyglutaric aciduria 2 and maffucci syndrome. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include magnesium ion binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is IDH1.

UniProtKB/Swiss-Prot for IDH2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IDH2 Gene

Genomics for IDH2 Gene

Regulatory Elements for IDH2 Gene

Promoters for IDH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IDH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for IDH2 Gene

Chromosome:
15
Start:
90,083,045 bp from pter
End:
90,102,554 bp from pter
Size:
19,510 bases
Orientation:
Minus strand

Genomic View for IDH2 Gene

Genes around IDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDH2 Gene

Proteins for IDH2 Gene

  • Protein details for IDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48735-IDHP_HUMAN
    Recommended name:
    Isocitrate dehydrogenase [NADP], mitochondrial
    Protein Accession:
    P48735
    Secondary Accessions:
    • B2R6L6
    • B4DFL2
    • Q96GT3

    Protein attributes for IDH2 Gene

    Size:
    452 amino acids
    Molecular mass:
    50909 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for IDH2 Gene

    Alternative splice isoforms for IDH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IDH2 Gene

Proteomics data for IDH2 Gene at MOPED

Post-translational modifications for IDH2 Gene

  • Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3.
  • Ubiquitination at Lys 166 and Lys 272
  • Modification sites at PhosphoSitePlus

Other Protein References for IDH2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IDH2 (IDH2)

Domains & Families for IDH2 Gene

Graphical View of Domain Structure for InterPro Entry

P48735

UniProtKB/Swiss-Prot:

IDHP_HUMAN :
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
Family:
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
genes like me logo Genes that share domains with IDH2: view

No data available for Gene Families for IDH2 Gene

Function for IDH2 Gene

Molecular function for IDH2 Gene

GENATLAS Biochemistry:
isocitrate dehydrogenase 2,mitochrondrial matrix,NADPH dependent,46.5 kDa,catalyzing the third step of citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity:
Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
UniProtKB/Swiss-Prot Function:
Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

Enzyme Numbers (IUBMB) for IDH2 Gene

Gene Ontology (GO) - Molecular Function for IDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with IDH2: view
genes like me logo Genes that share phenotypes with IDH2: view

Human Phenotype Ontology for IDH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IDH2 Gene

MGI Knock Outs for IDH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for IDH2 Gene

Localization for IDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDH2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IDH2 Gene COMPARTMENTS Subcellular localization image for IDH2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 4
chloroplast 2
nucleus 2
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for IDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with IDH2: view

Pathways & Interactions for IDH2 Gene

genes like me logo Genes that share pathways with IDH2: view

SIGNOR curated interactions for IDH2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS --
genes like me logo Genes that share ontologies with IDH2: view

Drugs & Compounds for IDH2 Gene

(22) Drugs for IDH2 Gene - From: HMDB, DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Investigational Pharma 1035
Daunorubicin Approved Pharma 252
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1169
Idarubicin Approved Pharma 199
Mitoxantrone Approved, Investigational Pharma 257

(7) Additional Compounds for IDH2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Oxalosuccinic acid
  • Oxalosuccinate
  • Oxalosuccinic acid
1948-82-9
genes like me logo Genes that share compounds with IDH2: view

Transcripts for IDH2 Gene

Unigene Clusters for IDH2 Gene

Isocitrate dehydrogenase 2 (NADP+), mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IDH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: - -
SP6:

Relevant External Links for IDH2 Gene

GeneLoc Exon Structure for
IDH2
ECgene alternative splicing isoforms for
IDH2

Expression for IDH2 Gene

mRNA expression in normal human tissues for IDH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IDH2 Gene

This gene is overexpressed in Muscle - Skeletal (x7.8), Heart - Left Ventricle (x7.4), and Liver (x4.4).

Protein differential expression in normal tissues from HIPED for IDH2 Gene

This gene is overexpressed in Heart (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for IDH2 Gene



SOURCE GeneReport for Unigene cluster for IDH2 Gene Hs.596461

genes like me logo Genes that share expression patterns with IDH2: view

Protein tissue co-expression partners for IDH2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for IDH2 Gene

Orthologs for IDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IDH2 35
  • 99.63 (n)
  • 99.78 (a)
IDH2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IDH2 36
  • 96 (a)
OneToOne
IDH2 35
  • 91.08 (n)
  • 96.24 (a)
dog
(Canis familiaris)
Mammalia IDH2 35
  • 90.56 (n)
  • 96.37 (a)
IDH2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Idh2 16
Idh2 36
  • 95 (a)
OneToOne
Idh2 35
  • 89.97 (n)
  • 95.13 (a)
oppossum
(Monodelphis domestica)
Mammalia IDH2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IDH2 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Idh2 35
  • 89.53 (n)
  • 94.69 (a)
chicken
(Gallus gallus)
Aves IDH2 35
  • 83.22 (n)
  • 89.26 (a)
IDH2 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IDH2 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia idh2 35
  • 75.15 (n)
  • 85.4 (a)
Str.6413 35
zebrafish
(Danio rerio)
Actinopterygii idh2 35
  • 76.91 (n)
  • 84.63 (a)
wufb33c06 35
IDH2 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003168 35
  • 68.51 (n)
  • 71.49 (a)
worm
(Caenorhabditis elegans)
Secernentea idh-2 36
  • 67 (a)
OneToOne
C34F6.8 37
  • 70 (a)
F59B8.2 37
  • 69 (a)
idh-2 35
  • 62.83 (n)
  • 69.01 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL022W 35
  • 65.5 (n)
  • 65.91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP2 35
  • 60.1 (n)
  • 64.84 (a)
IDP1 36
  • 60 (a)
ManyToMany
IDP2 36
  • 62 (a)
ManyToMany
IDP3 36
  • 60 (a)
ManyToMany
IDP3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12342g 35
  • 60.58 (n)
  • 64.25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ICDH 35
  • 64.04 (n)
  • 68.97 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4559 35
rice
(Oryza sativa)
Liliopsida Os.2326 35
Os01g0248400 35
  • 64.1 (n)
  • 69.65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7852 36
  • 72 (a)
OneToOne
Species with no ortholog for IDH2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IDH2 Gene

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

Paralogs for IDH2 Gene

Paralogs for IDH2 Gene

(1) SIMAP similar genes for IDH2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with IDH2: view

Variants for IDH2 Gene

Sequence variations from dbSNP and Humsavar for IDH2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_065174 D-2-hydroxyglutaric aciduria 2 (D2HGA2)
VAR_065175 D-2-hydroxyglutaric aciduria 2 (D2HGA2)
VAR_073181 Glioma (GLM)
VAR_073182 Glioma (GLM)
VAR_073183 Glioma (GLM)

Structural Variations from Database of Genomic Variants (DGV) for IDH2 Gene

Variant ID Type Subtype PubMed ID
dgv776e1 CNV Complex 17122850
nsv904486 CNV Gain 21882294
dgv112e55 CNV Gain 17911159
dgv777e1 CNV Complex 17122850
nsv442384 CNV CNV 18776908

Variation tolerance for IDH2 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IDH2 Gene

HapMap Linkage Disequilibrium report
IDH2
Human Gene Mutation Database (HGMD)
IDH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH2 Gene

Disorders for IDH2 Gene

MalaCards: The human disease database

(38) MalaCards diseases for IDH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
d-2-hydroxyglutaric aciduria 2
  • d2hga2
maffucci syndrome
  • dyschondrodysplasia with hemangiomas
d-2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
ollier disease
  • dyschondroplasia
glioma susceptibility 1
  • glioma somatic
- elite association - COSMIC cancer census association via MalaCards
Search IDH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IDHP_HUMAN
  • 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. {ECO:0000269 PubMed:20847235}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:19228619, ECO:0000269 PubMed:25495392}. Note=The gene represented in this entry is involved in disease pathogenesis.

Relevant External Links for IDH2

Genetic Association Database (GAD)
IDH2
Human Genome Epidemiology (HuGE) Navigator
IDH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IDH2
genes like me logo Genes that share disorders with IDH2: view

No data available for Genatlas for IDH2 Gene

Publications for IDH2 Gene

  1. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PMID: 19765000) Sonoda Y. … Tominaga T. (Cancer Sci. 2009) 3 23 48 67
  2. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PMID: 19915015) Gaal J. … Dinjens W.N. (J. Clin. Endocrinol. Metab. 2010) 3 23
  3. Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. (PMID: 20131059) Felsberg J. … Reifenberger G. (Acta Neuropathol. 2010) 3 23
  4. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. (PMID: 20171147) Ward P.S. … Thompson C.B. (Cancer Cell 2010) 3 23
  5. IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. (PMID: 20368543) Marcucci G. … Bloomfield C.D. (J. Clin. Oncol. 2010) 3 23

Products for IDH2 Gene

Sources for IDH2 Gene

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