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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
External Ids for IDH2 Gene
- HGNC: 5383
- Entrez Gene: 3418
- Ensembl: ENSG00000182054
- OMIM: 147650
- UniProtKB: P48735
Previous GeneCards Identifiers for IDH2 Gene
- GC15M087031
- GC15M084133
- GC15M088213
- GC15M088356
- GC15M088428
- GC15M090626
- GC15M066740
Summaries 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]
-
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 Metabolism and Carbon metabolism. 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.
Additional gene information for IDH2 Gene
- HGNC(5383)
- Entrez Gene(3418)
- Ensembl(ENSG00000182054)
- OMIM(147650)
- UniProtKB(P48735)
- Open Targets Platform(ENSG00000182054)
- Monarch Initiative
- Search for IDH2 at DataMed
- Search for IDH2 at HumanCyc
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
- 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
Genomic Locations for IDH2 Gene
- chr15:90,083,045-90,102,477
- (GRCh38/hg38)
- Size:
- 19,433 bases
- Orientation:
- Minus strand
- chr15:90,626,277-90,645,736
- (GRCh37/hg19)
- 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:
-
- 15q26.1 by HGNC
- 15q26.1 by Entrez Gene
- 15q26.1 by Ensembl
IDH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- NX_P48735 (NX_P48735-1)
- Modification sites at PhosphoSitePlus
Other Protein References for IDH2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ IDH2 Antibody
- GeneTex Anti-IDH2 antibody and Anti-IDH2 antibody [GT673]
- NSJ Bioreagents IDH2 Antibody
- Novus Biologicals Antibodies for IDH2
-
Abcam antibodies for IDH2
- Invitrogen Antibodies for IDH2 (AFLGC-Idh2)
-
Custom Antibody ServicesProSci Antibodies for IDH2
-
Santa Cruz Biotechnology (SCBT) Antibodies for IDH2
- Sino Biological Antibodies for IDH2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for IDH2
- Origene Custom Protein Services for IDH2
-
Signalway Proteins for IDH2
-
Abcam proteins for IDH2
Assay Products
- antibodies-online: Show 16 available IDH2 Elisa Kits ranked by validation data
- Compare Top IDH2 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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
P48735UniProtKB/Swiss-Prot:
IDHP_HUMAN :- Belongs to the isocitrate and isopropylmalate dehydrogenases family.
- Family:
-
- Belongs to the isocitrate and isopropylmalate dehydrogenases family.
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=isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH; Xref=Rhea:RHEA:19629, ChEBI:CHEBI:16087, 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
| 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 | -- |
Phenotypes for IDH2 Gene
- MGI mutant phenotypes for IDH2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for IDH2:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- shRNA abundance <= 50%
- Decreased viability ratio
- Reduced mammosphere formation
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage; decreased viability in pancreas lineage
Animal Model Products
-
Taconic Biosciences Mouse Models for IDH2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IDH2 - Select products 50% OFF >
- * IDH2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IDH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IDH2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IDH2
miRNA for IDH2 Gene
- miRTarBase miRNAs that target IDH2
-
- hsa-miR-183-5p (MIRT007339)
- hsa-miR-26b-5p (MIRT029275)
- hsa-miR-1260b (MIRT052706)
- hsa-miR-7152-5p (MIRT710698)
- hsa-miR-3074-5p (MIRT710699)
- hsa-miR-498 (MIRT710700)
- hsa-miR-6836-3p (MIRT710701)
- hsa-miR-5001-3p (MIRT710702)
- hsa-miR-6829-3p (MIRT710703)
- hsa-miR-6791-3p (MIRT710704)
- hsa-miR-6778-3p (MIRT710705)
- hsa-miR-4726-3p (MIRT710706)
- hsa-miR-6764-5p (MIRT710707)
- hsa-miR-1915-3p (MIRT710708)
- hsa-miR-6840-3p (MIRT710709)
- hsa-miR-1250-3p (MIRT710710)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IDH2
- Browse OriGene Inhibitory RNA Products For IDH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH2
Clone Products
- Applied Biological Materials (abm): Clones for IDH2 - Select products 50% OFF >
- * IDH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IDH2
- Addgene plasmids for IDH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IDH2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Mitochondria (3)
| 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 |
Pathways & Interactions for IDH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Carbon metabolism | ||
| 2 | Pyruvate metabolism and Citric Acid (TCA) cycle |
.01
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Glucose / Energy Metabolism | ||
| 5 | Central carbon metabolism in cancer | ||
Pathways by source for IDH2 Gene
2 BioSystems pathways for IDH2 Gene
4 Reactome pathways for IDH2 Gene
8 KEGG pathways for IDH2 Gene
1 Cell Signaling Technology pathway for IDH2 Gene
Interacting Proteins for IDH2 Gene
GPS-Prot Interaction Network for IDH2
| 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 | -- |
Drugs & Compounds for IDH2 Gene
| 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 | 245 | ||
| Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 | |||
| Daunorubicin | Approved | Pharma | DNA topoisomerase II inhibitor | 383 | ||
| Etoposide | Approved | Pharma | Topo II inhibitor, Topoisomerase 2 Inhibitors | 1461 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
||||
| Oxalosuccinic acid |
|
1948-82-9 |
|
(1) ApexBio Compounds for IDH2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| AGI-6780 | IDH2/R140Q mutation inhibitor | 1432660-47-3 |
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 :
-
- ENST00000330062 2658 nts (view in UCSC)
- ENST00000540499 1453 nts (view in UCSC)
- ENST00000559482 1278 nts (view in UCSC)
- ENST00000560061 1449 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IDH2 - Select products 50% OFF >
- * IDH2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IDH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IDH2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IDH2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IDH2
- Browse OriGene Inhibitory RNA Products For IDH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH2
Clone Products
- Applied Biological Materials (abm): Clones for IDH2 - Select products 50% OFF >
- * IDH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IDH2
- Addgene plasmids for IDH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IDH2
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
-
Skeletal Muscle (Muscoskeletal System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IDH2
SOURCE GeneReport for Unigene cluster for IDH2 Gene:
Hs.596461Evidence on tissue expression from TISSUES for IDH2 Gene
- Heart(5)
- Nervous system(5)
- Intestine(4.8)
- Liver(4.7)
- Skin(4.7)
- Kidney(4.2)
- Muscle(4.1)
- Stomach(3.7)
- Blood(3.7)
- Lung(3.6)
- Bone marrow(3.5)
- Eye(3)
- Lymph node(2.9)
- Pancreas(2.8)
- Spleen(2.7)
- Adrenal gland(2.4)
- Thyroid gland(2.3)
- Gall bladder(2.2)
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
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
Primer Products
-
OriGene qPCR primer pairs for IDH2
-
OriGene qPCR primer pairs and template standards for IDH2
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IDH2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IDH2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IDH2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Idh2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Idh2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | IDH2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IDH2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IDH2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IDH2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | idh2 30 |
|
||
| Str.6413 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | idh2 30 |
|
||
| IDH2 31 |
|
OneToOne | |||
| wufb33c06 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003168 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C34F6.8 32 |
|
|
|
| F59B8.2 32 |
|
|
|||
| idh-2 30 31 |
|
OneToOne | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL022W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F12342g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IDP2 30 31 33 |
|
ManyToMany | |
| IDP3 31 |
|
ManyToMany | |||
| IDP1 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ICDH 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0248400 30 |
|
||
| Os.2326 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4559 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7852 31 |
|
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
Paralogs for IDH2 Gene
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 |
|---|---|---|---|---|---|
| 641910 | Uncertain Significance: D-2-hydroxyglutaric aciduria 2 | 90,085,050(-) | G/A | MISSENSE_VARIANT | |
| 643998 | Uncertain Significance: D-2-hydroxyglutaric aciduria 2 | 90,088,449(-) | G/C | MISSENSE_VARIANT | |
| 657276 | Uncertain Significance: D-2-hydroxyglutaric aciduria 2 | 90,087,235(-) | T/C | MISSENSE_VARIANT | |
| 712843 | Likely Benign: D-2-hydroxyglutaric aciduria 2 | 90,091,619(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 715534 | Likely Benign: D-2-hydroxyglutaric aciduria 2 | 90,091,640(-) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH2 Gene
Disorders for IDH2 Gene
(71) MalaCards diseases for IDH2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| d-2-hydroxyglutaric aciduria 2 |
|
|
| d-2-hydroxyglutaric aciduria 1 |
|
|
| multiple enchondromatosis, maffucci type |
|
|
| enchondromatosis, multiple, ollier type |
|
|
| brain stem glioma |
|
|
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}.
Additional Disease Information for IDH2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for IDH2 Gene
Publications for IDH2 Gene
- 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 23 41
- IDH1 and IDH2 mutations in gliomas. (PMID: 19228619) Yan H … Bigner DD (The New England journal of medicine 2009) 3 4 23
- Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PMID: 19765000) Sonoda Y … Tominaga T (Cancer science 2009) 3 23 41
- 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 23 41
- 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
ExternalLinks
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Sources for IDH2 Gene
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