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Aliases for IDH2 Gene

Aliases for IDH2 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial 2 3 5
  • Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial 2 3
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 58
  • ICD-M 3 4
  • IDH 3 4
  • IDP 3 4
  • Isocitrate Dehydrogenase [NADP], Mitochondrial 3
  • 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]

CIViC summary for IDH2 Gene

  • IDH2 mutations have been observed in a number of cancer types, including sarcomas, hematologic malignancies, colon cancer and brain cancer. Mutations in the two isocitrate dehydrogenase enzymes involved in cytoplasmic (IDH1) and mitochondrial (IDH2) conversion of alpha-ketoglutarate to D-2-hydroxyglutarate have been described as mutually exclusive in many of these cancer types. The most frequent mutations involve R132 (IDH1) and R172 (IDH2) involve the active site and result in neomorphic enzyme activity. Although IDH2 (R172) mutations are associated with poorer overall prognosis in AML patients, its utility as a prognostic marker in MDS is still under debate. Additionally, IDH2 (R140) has been associated with improved overall survival in AML. IDH2 mutations have been associated with improved prognosis in gliomas.

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 Multiple Enchondromatosis, Maffucci Type. Among its related pathways are Metabolism and Cytosine methylation. 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

Additional gene information 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

Enhancers for IDH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H090106 1.4 Ensembl ENCODE dbSUPER 53.4 -4.3 -4280 1 PKNOX1 INSM2 SIN3A KLF17 YY1 ZNF121 GLIS2 ELK1 FOS RCOR1 IDH2 IDH2-DT GC15P090129
GH15H090094 1.3 ENCODE dbSUPER 53.6 +2.4 2420 11 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF207 ZNF143 JUNB REST IDH2 ENSG00000259314 UNC45A POLG LOC100631255 ENSG00000259212 FANCI NGRN GDPGP1 GC15P090091
GH15H090127 1.2 Ensembl ENCODE 36.7 -24.4 -24357 0 ELF3 FOXA2 MLX ARID4B THRB ZSCAN9 RAD21 RARA SLC30A9 CREM IDH2 NGRN MESP1 GC15P090129 IDH2-DT
GH15H090209 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -109.9 -109933 5 HDAC1 TBP SIN3A FEZF1 BATF RAD21 TCF12 GATA2 SCRT2 ZNF143 SEMA4B CIB1 GDPGP1 IDH2 NGRN IQGAP1 ENSG00000228998 TTLL13P RPS12P26 PIR48569
GH15H090056 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +41.3 41334 9 HDGF PKNOX1 ARNT ETS1 TCF12 ZNF121 ZNF766 ZNF143 ZNF207 ATF7 ZNF710 IQGAP1 IDH2 MESP1 ENSG00000228998 AP3S2 SEMA4B CIB1 ANPEP PIR55871
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IDH2 on UCSC Golden Path with GeneCards custom track

Promoters for IDH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000081002 154 1601 HDGF ARID4B SIN3A YY1 ZNF121 GLIS2 ELK1 ZNF143 ATF7 REST

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

Selected DME Specific Peptides for IDH2 Gene

P48735:
  • VFTPKDGS
  • KNYDGDVQSD
  • EAAHGTV
  • GDQYKATD
  • GDEMTRIIW
  • GTVFREPI
  • IICKNIPRL
  • KYFDLGLP
  • IASIFAW
  • MWKSPNGTIRN
  • GSLGLMTSVL
  • SLCRASGS
  • KHYKTDFDK
  • KCATITPDEAR
  • WACKNYDGDV
  • TKNTILK
  • DFLDTIKSNLDRALG
  • YEHRLIDDMVA
  • SPNGTIRNIL
  • YDGRFKDIFQ
  • AQGFGSLGLMTS
  • PGWTKPI
  • HGTVTRH
  • DGDEMTR

Post-translational modifications for IDH2 Gene

  • Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3.
  • Ubiquitination at posLast=166166 and isoforms=2272
  • 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

Gene Families for IDH2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for IDH2 Gene

Gene Ontology (GO) - Molecular Function for IDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0004448 isocitrate dehydrogenase activity IEA --
GO:0004450 isocitrate dehydrogenase (NADP+) activity IDA,ISS --
GO:0016491 oxidoreductase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IDH2
  • Applied Biological Materials Clones for IDH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IDH2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 4
peroxisome 2
nucleus 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005777 peroxisome IEA --
GO:0005829 cytosol IEA --
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:0005975 carbohydrate metabolic process NAS 8954790
GO:0006097 glyoxylate cycle IEA --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006102 isocitrate metabolic process ISS --
GO:0006103 2-oxoglutarate metabolic process ISS --
genes like me logo Genes that share ontologies with IDH2: view

Drugs & Compounds for IDH2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Enasidenib Approved Pharma Target, inhibitor 0
Cytarabine Approved, Investigational Pharma 1136
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 284
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1287
Idarubicin Approved Pharma 222

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7

(1) ApexBio Compounds for IDH2 Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
genes like me logo Genes that share compounds with IDH2: view

Drug Products

Transcripts for IDH2 Gene

Unigene Clusters for IDH2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IDH2
  • Applied Biological Materials Clones for IDH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IDH2 Gene



Protein tissue co-expression partners for IDH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of IDH2 Gene:

IDH2

SOURCE GeneReport for Unigene cluster for IDH2 Gene:

Hs.596461

Evidence on tissue expression from TISSUES for IDH2 Gene

  • Heart(4.9)
  • Nervous system(4.9)
  • Intestine(4.7)
  • Liver(4.6)
  • Skin(4.4)
  • Muscle(3.9)
  • Kidney(3.8)
  • Blood(3.3)
  • Stomach(3.1)
  • Lung(2.9)
  • Bone marrow(2.7)
  • Eye(2.4)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • epiglottis
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with IDH2: view

Primer 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 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia IDH2 33 34
  • 91.08 (n)
dog
(Canis familiaris)
Mammalia IDH2 33 34
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia Idh2 33 16 34
  • 89.97 (n)
rat
(Rattus norvegicus)
Mammalia Idh2 33
  • 89.53 (n)
oppossum
(Monodelphis domestica)
Mammalia IDH2 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IDH2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves IDH2 33 34
  • 83.22 (n)
lizard
(Anolis carolinensis)
Reptilia IDH2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia idh2 33
  • 75.15 (n)
Str.6413 33
zebrafish
(Danio rerio)
Actinopterygii idh2 33
  • 76.91 (n)
IDH2 34
  • 61 (a)
OneToOne
wufb33c06 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003168 33
  • 68.51 (n)
worm
(Caenorhabditis elegans)
Secernentea C34F6.8 35
  • 70 (a)
F59B8.2 35
  • 69 (a)
idh-2 33 34
  • 62.83 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL022W 33
  • 65.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12342g 33
  • 60.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP2 33 34
  • 60.1 (n)
IDP1 34
  • 60 (a)
ManyToMany
IDP3 34 36
  • 60 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ICDH 33
  • 64.04 (n)
rice
(Oryza sativa)
Liliopsida Os01g0248400 33
  • 64.1 (n)
Os.2326 33
barley
(Hordeum vulgare)
Liliopsida Hv.4559 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7852 34
  • 72 (a)
OneToOne
Species where no ortholog for IDH2 was found in the sources mined by GeneCards:
  • 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
rs121913502 Pathogenic, D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] 90,088,702(-) TATCC(A/G)GAACA reference, missense
rs121913503 Glioma (GLM) [MIM:137800] 90,088,606(-) TGGCA(A/G)GCACG reference, missense
rs267606870 Pathogenic, D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] 90,088,703(-) CTATC(C/G/T)GGAAC reference, missense
VAR_073181 Glioma (GLM) [MIM:137800]
VAR_073182 Glioma (GLM) [MIM:137800]

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

Variant ID Type Subtype PubMed ID
dgv112e55 CNV gain 17911159
esv2760054 CNV gain 17122850
esv3569864 CNV gain 25503493
esv3637213 CNV gain 21293372
nsv1038313 CNV gain 25217958
nsv1052652 CNV gain 25217958
nsv442384 CNV gain 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

Human Gene Mutation Database (HGMD)
IDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IDH2

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

Disorders for IDH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
d-2-hydroxyglutaric aciduria 2
  • d2hga2
multiple enchondromatosis, maffucci type
  • maffucci syndrome
d-2-hydroxyglutaric aciduria
  • d-2-hga
enchondromatosis, multiple, ollier type
  • hereditary multiple exostoses
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.
  • Note=enetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. {ECO:0000269 PubMed:26161668}.

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. 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 neuropathologica 2010) 3 22 45 60
  2. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PMID: 19765000) Sonoda Y … Tominaga T (Cancer science 2009) 3 22 45 60
  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. (PMID: 19554337) Hartmann C … von Deimling A (Acta neuropathologica 2009) 3 22 45 60
  4. IDH1 and IDH2 mutations in gliomas. (PMID: 19228619) Yan H … Bigner DD (The New England journal of medicine 2009) 3 4 22 60
  5. IDH2 mutation in gliomas including novel mutation. (PMID: 25495392) Koh J … Park SH (Neuropathology : official journal of the Japanese Society of Neuropathology 2015) 3 4 60

Products for IDH2 Gene

  • Addgene plasmids for IDH2

Sources for IDH2 Gene

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