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 IDH1 Gene

Aliases for IDH1 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 1 2 3 5
  • Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic 2 3
  • Isocitrate Dehydrogenase 1 (NADP+), Soluble 2 3
  • Isocitrate Dehydrogenase [NADP] Cytoplasmic 3 4
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 4 51
  • PICD 3 4
  • IDH 3 4
  • IDP 3 4
  • NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal 3
  • NADP-Dependent Isocitrate Dehydrogenase, Cytosolic 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cytosolic NADP-Isocitrate Dehydrogenase 4
  • Isocitrate Dehydrogenase 1 (NADP+) 2
  • Epididymis Secretory Protein Li 26 3
  • Epididymis Luminal Protein 216 3
  • HEL-S-26 3
  • HEL-216 3
  • IDCD 3
  • IDPC 3
  • IDH1 5

External Ids for IDH1 Gene

Previous GeneCards Identifiers for IDH1 Gene

  • GC02M207376
  • GC02M207825
  • GC02M209064
  • GC02M209303
  • GC02M208926
  • GC02M208809
  • GC02M209100
  • GC02M200949

Summaries for IDH1 Gene

Entrez Gene Summary for IDH1 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 cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]

CIViC Summary for IDH1 Gene

  • IDH1 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. The implications of mutations in this gene vary greatly by cancer type. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 mutations have been associated with worse outcome, shorter overall survival, and normal karyotype. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Unlike the association with cytogenetically normal AML, in glioblastoma, IDH1 mutations have been associated with specific cytogenetic abnormalities, 1p and 19q deletions.

GeneCards Summary for IDH1 Gene

IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1) is a Protein Coding gene. Diseases associated with IDH1 include Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria and Glioma Susceptibility 1. Among its related pathways are Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is IDH2.

Gene Wiki entry for IDH1 Gene

No data available for UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IDH1 Gene

Genomics for IDH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IDH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208251 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +12.3 12280 4.8 ARHGAP35 CEBPG SP1 HNRNPL GATAD2A CTCF ATF7 PRDM10 REST TFE3 IDH1-AS1 PIKFYVE lnc-C2orf80-1 IDH1 CREB1 PTH2R piR-30449-089 C2orf80
GH02J208264 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.6 -565 3.9 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 IKZF1 NFKBIZ POLR2A PIKFYVE IDH1 CREB1 PTH2R MYL6BP1
GH02J208130 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.2 +135.6 135573 1.4 GATAD2A RBFOX2 RXRB IRF2 SOX13 JUND CEBPB JUN MBD1 ZNF205 CRYGC CRYGA IDH1-AS1 IDH1 CRYGEP CRYGD LOC100533727 LOC100507443
GH02J208175 Enhancer 1 Ensembl ENCODE 11.9 +90.7 90674 1.6 GATAD2A CTCF TFE3 ZNF512 IKZF1 RCOR2 JUND ZNF143 RXRB REST IDH1-AS1 IDH1 CRYGB CRYGC CRYGD piR-43106-130 CRYGA C2orf80 LOC100507443
GH02J208112 Promoter/Enhancer 1.1 Ensembl ENCODE 11 +153.2 153242 2.1 ZNF692 FOXA1 ZBTB44 ZXDB CTBP1 OSR2 RCOR1 ZBTB48 ZBTB17 POLR2A CRYGEP CRYGB IDH1-AS1 IDH1 CRYGA FZD5 CRYGD piR-39781-018 PLEKHM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IDH1

Top Transcription factor binding sites by QIAGEN in the IDH1 gene promoter:
  • ATF6
  • C/EBPalpha
  • CHOP-10
  • Evi-1
  • GATA-1
  • HOXA3
  • MIF-1
  • Pax-5
  • STAT5B

Genomic Locations for IDH1 Gene

Genomic Locations for IDH1 Gene
29,848 bases
Minus strand
29,848 bases
Minus strand

Genomic View for IDH1 Gene

Genes around IDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDH1 Gene

Proteins for IDH1 Gene

  • Protein details for IDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Isocitrate dehydrogenase [NADP] cytoplasmic
    Protein Accession:
    Secondary Accessions:
    • Q567U4
    • Q6FHQ6
    • Q7Z3V0
    • Q93090
    • Q9NTJ9
    • Q9UKW8

    Protein attributes for IDH1 Gene

    414 amino acids
    Molecular mass:
    46659 Da
    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 IDH1 Gene

neXtProt entry for IDH1 Gene

Selected DME Specific Peptides for IDH1 Gene


Post-translational modifications for IDH1 Gene

  • Acetylation at Lys-374 dramatically reduces catalytic activity.
  • Ubiquitination at Lys126, Lys224, Lys233, and Lys321
  • Modification sites at PhosphoSitePlus

Domains & Families for IDH1 Gene

Gene Families for IDH1 Gene

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

Protein Domains for IDH1 Gene

  • Isocitrate/isopropylmalate dehydrogenase

Suggested Antigen Peptide Sequences for IDH1 Gene

GenScript: Design optimal peptide antigens:
  • Oxalosuccinate decarboxylase (IDHC_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q0QER2_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q567U4_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q6FHQ6_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q6FI37_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
genes like me logo Genes that share domains with IDH1: view

Function for IDH1 Gene

Molecular function for IDH1 Gene

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=; Evidence={ECO:0000269|PubMed:10521434, ECO:0000269|PubMed:19935646};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=49 uM for NADP {ECO:0000269|PubMed:19935646}; KM=29 uM for magnesium chloride {ECO:0000269|PubMed:19935646}; KM=65 uM for isocitrate {ECO:0000269|PubMed:19935646};
GENATLAS Biochemistry:
isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle

Enzyme Numbers (IUBMB) for IDH1 Gene

Phenotypes From GWAS Catalog for IDH1 Gene

Gene Ontology (GO) - Molecular Function for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 19935646
GO:0004448 isocitrate dehydrogenase activity IEA --
GO:0004450 isocitrate dehydrogenase (NADP+) activity IEA,IDA 10521434
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 IDH1: view
genes like me logo Genes that share phenotypes with IDH1: view

Human Phenotype Ontology for IDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IDH1 Gene

MGI Knock Outs for IDH1:
  • Idh1 Idh1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

No data available for Transcription Factor Targets and HOMER Transcription for IDH1 Gene

Localization for IDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDH1 Gene

Cytoplasm, cytosol. Peroxisome.

Subcellular locations from

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 IDH1 gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 4
mitochondrion 4
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005777 peroxisome IBA,IDA 10521434
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with IDH1: view

Pathways & Interactions for IDH1 Gene

genes like me logo Genes that share pathways with IDH1: view

SIGNOR curated interactions for IDH1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006097 glyoxylate cycle IEA --
GO:0006099 tricarboxylic acid cycle IEA --
GO:0006102 isocitrate metabolic process IEA,IDA 10521434
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006625 protein targeting to peroxisome TAS --
genes like me logo Genes that share ontologies with IDH1: view

Drugs & Compounds for IDH1 Gene

(33) Drugs for IDH1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ivosidenib Approved, Investigational Pharma Target, inhibitor 27
Indocyanine green acid form Approved, Investigational Pharma Enzyme, cofactor 0
Venetoclax Approved, Investigational Pharma Bcl-2 inhibitor,potent and selective 245
Azacitidine Approved, Investigational Pharma 555
Cytarabine Approved, Experimental, Investigational Pharma 1335

(10) Additional Compounds for IDH1 Gene - From: HMDB and Novoseek

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

(1) ApexBio Compounds for IDH1 Gene

Compound Action Cas Number
AGI-5198 IDH1 inhibitor against R132 mutant,selective and cell-permeable 1355326-35-0
genes like me logo Genes that share compounds with IDH1: view

Transcripts for IDH1 Gene

mRNA/cDNA for IDH1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

Alternative Splicing Database (ASD) splice patterns (SP) for IDH1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: -

Relevant External Links for IDH1 Gene

GeneLoc Exon Structure for

Expression for IDH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IDH1 Gene

mRNA differential expression in normal tissues according to GTEx for IDH1 Gene

This gene is overexpressed in Adrenal Gland (x6.5) and Liver (x4.9).

Protein differential expression in normal tissues from HIPED for IDH1 Gene

This gene is overexpressed in Liver, secretome (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IDH1 Gene

Protein tissue co-expression partners for IDH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IDH1

SOURCE GeneReport for Unigene cluster for IDH1 Gene:


Evidence on tissue expression from TISSUES for IDH1 Gene

  • Nervous system(5)
  • Liver(4.9)
  • Lung(4.7)
  • Kidney(4.6)
  • Skin(3.9)
  • Intestine(3.6)
  • Blood(3.4)
  • Spleen(3.2)
  • Heart(3.2)
  • Adrenal gland(3)
  • Stomach(2.9)
  • Pancreas(2.9)
  • Bone marrow(2.9)
  • Lymph node(2.8)
  • Thyroid gland(2.8)
  • Muscle(2.7)
  • Eye(2.6)
  • Gall bladder(2.6)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • pelvis
  • 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
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IDH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IDH1 Gene

Orthologs for IDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IDH1 30 31
  • 99.28 (n)
(Canis familiaris)
Mammalia IDH1 30 31
  • 92.83 (n)
(Bos Taurus)
Mammalia IDH1 30 31
  • 91.14 (n)
(Mus musculus)
Mammalia Idh1 30 17 31
  • 90.42 (n)
(Rattus norvegicus)
Mammalia Idh1 30
  • 90.42 (n)
(Ornithorhynchus anatinus)
Mammalia IDH1 31
  • 89 (a)
(Monodelphis domestica)
Mammalia IDH1 31
  • 71 (a)
(Gallus gallus)
Aves IDH1 30 31
  • 80 (n)
(Anolis carolinensis)
Reptilia IDH1 31
  • 88 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.17063 30
(Danio rerio)
Actinopterygii idh1 30 31
  • 74.24 (n)
zgc66318 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006660 30
  • 67.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Idh 30 31
  • 67.56 (n)
(Caenorhabditis elegans)
Secernentea F59B8.2 32
  • 74 (a)
idh-1 30 31
  • 67.24 (n)
C34F6.8 32
  • 66 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03355g 30
  • 65.31 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP1 30 31 33
  • 63.61 (n)
IDP2 31
  • 61 (a)
IDP3 31
  • 58 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER061C 30
  • 62.46 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons cICDH 30
  • 63.48 (n)
(Oryza sativa)
Liliopsida Os01g0654500 30
  • 64.16 (n)
(Triticum aestivum)
Liliopsida Ta.1053 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8995 31
  • 73 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03857 30
  • 64.48 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idp1 30
  • 62.12 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8505 30
Species where no ortholog for IDH1 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • 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)

Evolution for IDH1 Gene

Gene Tree for IDH1 (if available)
Gene Tree for IDH1 (if available)
Evolutionary constrained regions (ECRs) for IDH1: view image

Paralogs for IDH1 Gene

Paralogs for IDH1 Gene

(1) SIMAP similar genes for IDH1 Gene using alignment to 8 proteins:

  • C9J4N6_HUMAN
  • Q6FI37_HUMAN
  • Q9H302_HUMAN Pseudogenes for IDH1 Gene

genes like me logo Genes that share paralogs with IDH1: view

Variants for IDH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IDH1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
638277 Uncertain Significance: Lymphoma 208,242,060(-) C/T MISSENSE_VARIANT
716837 Benign: not provided 208,242,136(-) C/T SYNONYMOUS_VARIANT
722784 Likely Benign: not provided 208,243,600(-) A/G SYNONYMOUS_VARIANT
740179 Likely Benign: not provided 208,239,879(-) C/T SYNONYMOUS_VARIANT
741270 Likely Benign: not provided 208,251,450(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IDH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IDH1 Gene

Variant ID Type Subtype PubMed ID
nsv525747 CNV loss 19592680
nsv584297 CNV gain 21841781
nsv834517 CNV loss 17160897
nsv963771 CNV duplication 23825009

Variation tolerance for IDH1 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IDH1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH1 Gene

Disorders for IDH1 Gene

MalaCards: The human disease database

(118) MalaCards diseases for IDH1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria
  • spondyloenchondromatosis with d-2-hydroxyglutaric aciduria
glioma susceptibility 1
  • glm1
  • astrocytic tumor
  • oligodendroglial neoplasm
multiple enchondromatosis, maffucci type
  • maffucci syndrome
- elite association - COSMIC cancer census association via MalaCards
Search IDH1 in MalaCards View complete list of genes associated with diseases


  • 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:19117336, ECO:0000269 PubMed:19935646}. Note=The gene represented in this entry is involved in disease pathogenesis. Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors. {ECO:0000269 PubMed:19935646}.
  • Note=Genetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. {ECO:0000269 PubMed:26161668}.

Additional Disease Information for IDH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IDH1: view

No data available for Genatlas for IDH1 Gene

Publications for IDH1 Gene

  1. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PMID: 20097881) Chou WC … Tien HF (Blood 2010) 3 23 41
  2. 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
  3. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID: 19117336) Bleeker FE … Bardelli A (Human mutation 2009) 3 4 23
  4. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. (PMID: 19935646) Dang L … Su SM (Nature 2009) 3 4 23
  5. Molecular predictors of progression-free and overall survival in patients with newly diagnosed glioblastoma: a prospective translational study of the German Glioma Network. (PMID: 19805672) Weller M … Loeffler M (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 23 41

Products for IDH1 Gene

Sources for IDH1 Gene