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 NAD... See more...

Aliases for IDH2 Gene

Aliases for IDH2 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 2 2 3 5
  • Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial 2 3
  • Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial 2 3
  • Isocitrate Dehydrogenase [NADP], Mitochondrial 3 4
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 50
  • ICD-M 3 4
  • IDH 3 4
  • IDP 3 4
  • MNADP-IDH 3
  • D2HGA2 3
  • IDHM 3
  • IDPM 3
  • IDH2 5

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) is a Protein Coding gene. Diseases associated with IDH2 include D-2-Hydroxyglutaric Aciduria 2 and D-2-Hydroxyglutaric Aciduria 1. Among its related pathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for IDH2 Gene

Genomics for IDH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IDH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J090094 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 303.5 +2.3 2342 11.2 BCLAF1 SP1 ZNF600 ATF2 POLR2A CEBPA ZNF10 BRCA1 ZIC2 YY1 IDH2 IDH2-DT NGRN GDPGP1 piR-47515 ZNF710
GH15J090106 Enhancer 1 ENCODE dbSUPER 53.3 -4.4 -4357 1.2 IKZF1 ZNF600 JUND ZIC2 YY1 ZNF217 ZNF341 CTBP1 CUX1 TEAD3 IDH2 IDH2-DT lnc-IDH2-2 SEMA4B
GH15J090127 Enhancer 1 Ensembl ENCODE 36.7 -24.3 -24318 1.2 IKZF1 ZMYM3 POLR2A YY1 MXD4 KLF11 ZNF341 HOMEZ SIN3A FOXA2 piR-42491-075 IDH2 NGRN MESP1 lnc-IDH2-2 IDH2-DT SEMA4B
GH15J090109 Enhancer 0.5 Ensembl 52.4 -7.2 -7224 1 CEBPA HNF4A ZNF366 ZNF384 SCRT2 IDH2 lnc-IDH2-2 IDH2-DT SEMA4B
GH15J090093 Enhancer 0.4 dbSUPER 44.6 +8.3 8332 0.5 ZSCAN9 ZNF652 TCF7 IDH2 piR-47515 IDH2-DT ZNF710
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IDH2

Top Transcription factor binding sites by QIAGEN in the IDH2 gene promoter:
  • AhR
  • AML1a
  • En-1
  • Ik-2
  • MAZR
  • MZF-1
  • NF-1
  • NF-1/L
  • RSRFC4
  • Sox9

Genomic Locations for IDH2 Gene

Latest Assembly
chr15:90,083,045-90,102,477
(GRCh38/hg38)
Size:
19,433 bases
Orientation:
Minus strand

Previous Assembly
chr15:90,626,277-90,645,700
(GRCh37/hg19 by Entrez Gene)
Size:
19,424 bases
Orientation:
Minus strand

chr15:90,626,277-90,645,736
(GRCh37/hg19 by Ensembl)
Size:
19,460 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;
    Cofactor:
    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 Lys166 and Lys272
  • Modification sites at PhosphoSitePlus

Other Protein References for IDH2 Gene

Domains & Families for IDH2 Gene

Gene Families for IDH2 Gene

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

Protein Domains for IDH2 Gene

InterPro:
Blocks:
  • Isocitrate/isopropylmalate dehydrogenase

Suggested Antigen Peptide Sequences for IDH2 Gene

GenScript: Design optimal peptide antigens:
  • Isocitrate dehydrogenase [NADP] (B4DFL2_HUMAN)
  • cDNA FLJ50654, highly similar to Isocitrate dehydrogenase (B4DSZ6_HUMAN)
  • Oxalosuccinate decarboxylase (IDHP_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH; Xref=Rhea:RHEA:19629, ChEBI:CHEBI:15562, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.42;.
GENATLAS Biochemistry:
isocitrate dehydrogenase 2,mitochrondrial matrix,NADPH dependent,46.5 kDa,catalyzing the third step of citric acid cycle

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:
  • Idh2 Idh2<tm1Jwpk>
  • Idh2 Idh2<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for IDH2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH2

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
mitochondrion 5
extracellular 4
cytosol 4
peroxisome 3
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 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 IBA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005777 peroxisome IEA --
GO:0005829 cytosol IEA --
GO:0070062 extracellular exosome HDA 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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
enasidenib Approved, Investigational Pharma Target, inhibitor 0
Venetoclax Approved, Investigational Pharma Bcl-2 inhibitor,potent and selective 312
Cytarabine Approved, Investigational Pharma 1376
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 399
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors 1532

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Oxalosuccinic acid
  • 1-Oxopropane-1,2,3-tricarboxylate
  • Oxalbernsteinsaeure
  • Oxalosuccinate
  • 1-Oxopropane-1,2,3-tricarboxylic acid
  • Oxalosuccinic acid
1948-82-9

(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 for research

Transcripts for IDH2 Gene

mRNA/cDNA for IDH2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH2

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

Expression for IDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IDH2 Gene



Protein tissue co-expression partners for IDH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IDH2

SOURCE GeneReport for Unigene cluster for IDH2 Gene:

Hs.596461

Evidence on tissue expression from TISSUES for IDH2 Gene

  • Heart(5)
  • Nervous system(5)
  • Intestine(4.8)
  • Liver(4.6)
  • Skin(4.6)
  • Kidney(4.1)
  • Muscle(4)
  • Stomach(3.6)
  • Blood(3.5)
  • Lung(3.5)
  • Bone marrow(3.3)
  • Eye(2.9)
  • Lymph node(2.7)
  • Pancreas(2.6)
  • Spleen(2.5)
  • Adrenal gland(2.2)
  • Thyroid gland(2.1)
  • Gall bladder(2.1)

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
Regions:
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

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 29 30
  • 99.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IDH2 29 30
  • 91.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IDH2 29 30
  • 90.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Idh2 29 16 30
  • 89.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Idh2 29
  • 89.53 (n)
Oppossum
(Monodelphis domestica)
Mammalia IDH2 30
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IDH2 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IDH2 29 30
  • 83.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IDH2 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia idh2 29
  • 75.15 (n)
Str.6413 29
Zebrafish
(Danio rerio)
Actinopterygii idh2 29
  • 76.91 (n)
IDH2 30
  • 61 (a)
OneToOne
wufb33c06 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003168 29
  • 68.51 (n)
Worm
(Caenorhabditis elegans)
Secernentea C34F6.8 31
  • 70 (a)
F59B8.2 31
  • 69 (a)
idh-2 29 30
  • 62.83 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL022W 29
  • 65.5 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12342g 29
  • 60.58 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP2 29 30 32
  • 60.1 (n)
ManyToMany
IDP3 30
  • 60 (a)
ManyToMany
IDP1 30
  • 60 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ICDH 29
  • 64.04 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0248400 29
  • 64.1 (n)
Os.2326 29
Barley
(Hordeum vulgare)
Liliopsida Hv.4559 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7852 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IDH2: view image
Alliance of Genome Resources:
Additional Orthologs for IDH2

Paralogs for IDH2 Gene

Paralogs for IDH2 Gene

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

  • IDHP_HUMAN
  • B4DFL2_HUMAN
  • B4DSZ6_HUMAN
  • H0YL11_HUMAN
  • H0YLL5_HUMAN
genes like me logo Genes that share paralogs with IDH2: view

Variants for IDH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IDH2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1010519 Uncertain Significance: D-2-hydroxyglutaric aciduria 2 90,084,828(-) T/A
NM_002168.4(IDH2):c.1259A>T (p.His420Leu)
MISSENSE
1030527 Uncertain Significance: D-2-hydroxyglutaric aciduria 2 90,090,474(-) C/T
NM_002168.4(IDH2):c.373+5G>A
INTRON
1030528 Uncertain Significance: D-2-hydroxyglutaric aciduria 2 90,087,202(-) T/G
NM_002168.4(IDH2):c.877A>C (p.Met293Leu)
MISSENSE
1033902 Pathogenic: D-2-hydroxyglutaric aciduria 2 90,084,266(-) C/T
NM_002168.4(IDH2):c.1359G>A (p.Ter453=)
SYNONYMOUS
1042645 Uncertain Significance: D-2-hydroxyglutaric aciduria 2 90,085,008(-) G/A
NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IDH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for IDH2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for IDH2 Gene

MalaCards: The human disease database

(72) MalaCards diseases for IDH2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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}.

Additional Disease Information for IDH2

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Publications for IDH2 Gene

  1. IDH1 and IDH2 mutations in gliomas. (PMID: 19228619) Yan H … Bigner DD (The New England journal of medicine 2009) 3 4 22 72
  2. 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 40 72
  3. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. (PMID: 20171147) Ward PS … Thompson CB (Cancer cell 2010) 3 22 72
  4. 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 40
  5. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. (PMID: 20847235) Kranendijk M … Salomons GS (Science (New York, N.Y.) 2010) 3 4 72

Products for IDH2 Gene

Sources for IDH2 Gene