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Aliases for D2HGDH Gene

Aliases for D2HGDH Gene

  • D-2-Hydroxyglutarate Dehydrogenase 2 3
  • D2HGD 3 4 6
  • D-2-Hydroxyglutarate Dehydrogenase, Mitochondrial 3
  • EC 1.1.99.- 4
  • EC 1.1.99 63

External Ids for D2HGDH Gene

Previous GeneCards Identifiers for D2HGDH Gene

  • GC02P9M0151
  • GC02P242323
  • GC02P242673
  • GC02P234429

Summaries for D2HGDH Gene

Entrez Gene Summary for D2HGDH Gene

  • This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

GeneCards Summary for D2HGDH Gene

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with D2HGDH include d-2-hydroxyglutaric aciduria and 2-hydroxyglutaric aciduria. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include flavin adenine dinucleotide binding and (R)-2-hydroxyglutarate dehydrogenase activity.

UniProtKB/Swiss-Prot for D2HGDH Gene

  • Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.

Gene Wiki entry for D2HGDH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for D2HGDH Gene

Genomics for D2HGDH Gene

Regulatory Elements for D2HGDH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for D2HGDH Gene

241,734,579 bp from pter
241,768,816 bp from pter
34,238 bases
Plus strand

Genomic View for D2HGDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for D2HGDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for D2HGDH Gene

Proteins for D2HGDH Gene

  • Protein details for D2HGDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    D-2-hydroxyglutarate dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4E3L6
    • E7ENP2
    • Q6IQ24
    • Q8N5Q8

    Protein attributes for D2HGDH Gene

    521 amino acids
    Molecular mass:
    56416 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    • Sequence=AAX82020.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for D2HGDH Gene


neXtProt entry for D2HGDH Gene

Proteomics data for D2HGDH Gene at MOPED

Selected DME Specific Peptides for D2HGDH Gene

Post-translational modifications for D2HGDH Gene

  • Ubiquitination at Lys64
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for D2HGDH Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 FAD-binding PCMH-type domain.
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
  • Contains 1 FAD-binding PCMH-type domain.
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with D2HGDH: view

No data available for Gene Families for D2HGDH Gene

Function for D2HGDH Gene

Molecular function for D2HGDH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(R)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by zinc and cobalt.
UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.

Enzyme Numbers (IUBMB) for D2HGDH Gene

Gene Ontology (GO) - Molecular Function for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity --
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with D2HGDH: view

Phenotypes for D2HGDH Gene

GenomeRNAi human phenotypes for D2HGDH:
genes like me logo Genes that share phenotypes with D2HGDH: view

Animal Model Products

miRNA for D2HGDH Gene

miRTarBase miRNAs that target D2HGDH

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for D2HGDH Gene

Localization for D2HGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for D2HGDH Gene


Subcellular locations from

Jensen Localization Image for D2HGDH Gene COMPARTMENTS Subcellular localization image for D2HGDH gene
Compartment Confidence
mitochondrion 4
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS 15070399
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with D2HGDH: view

Pathways for D2HGDH Gene

genes like me logo Genes that share pathways with D2HGDH: view

Gene Ontology (GO) - Biological Process for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0010042 response to manganese ion ISS 15070399
GO:0010043 response to zinc ion ISS 15070399
GO:0032025 response to cobalt ion ISS 15070399
GO:0032026 NOT response to magnesium ion ISS 15070399
genes like me logo Genes that share ontologies with D2HGDH: view

Drugs for D2HGDH Gene

(4) HMDB Compounds for D2HGDH Gene

Compound Synonyms Cas Number PubMed IDs
  • Aquacat
D-2-Hydroxyglutaric acid
  • (R)-2-hydroxy-Pentanedioate
  • 1H-Purin-6-amine flavin dinucleotide
Oxoglutaric acid
  • 2-Ketoglutarate
genes like me logo Genes that share compounds with D2HGDH: view

Transcripts for D2HGDH Gene

mRNA/cDNA for D2HGDH Gene

(29) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for D2HGDH Gene

D-2-hydroxyglutarate dehydrogenase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for D2HGDH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for D2HGDH Gene

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

Relevant External Links for D2HGDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for D2HGDH Gene

mRNA expression in normal human tissues for D2HGDH Gene

Protein differential expression in normal tissues for D2HGDH Gene

This gene is overexpressed in Cervix (19.7), Liver (14.1), and Frontal cortex (10.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for D2HGDH Gene

SOURCE GeneReport for Unigene cluster for D2HGDH Gene Hs.516813

genes like me logo Genes that share expressions with D2HGDH: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for D2HGDH Gene

Orthologs for D2HGDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for D2HGDH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia D2HGDH 35
  • 81.76 (n)
  • 81.5 (a)
  • 77 (a)
(Canis familiaris)
Mammalia D2HGDH 35
  • 85.07 (n)
  • 85.38 (a)
  • 74 (a)
(Mus musculus)
Mammalia D2hgdh 35
  • 79.66 (n)
  • 82.07 (a)
D2hgdh 16
D2hgdh 36
  • 79 (a)
(Pan troglodytes)
Mammalia D2HGDH 35
  • 98.13 (n)
  • 97.75 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia D2hgdh 35
  • 79.49 (n)
  • 81.89 (a)
(Monodelphis domestica)
Mammalia D2HGDH 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia D2HGDH 36
  • 76 (a)
(Gallus gallus)
Aves D2HGDH 35
  • 70.33 (n)
  • 71.96 (a)
  • 69 (a)
(Anolis carolinensis)
Reptilia D2HGDH 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia d2hgdh 35
  • 63.67 (n)
  • 68.41 (a)
(Danio rerio)
Actinopterygii d2hgdh 35
  • 66.09 (n)
  • 69.25 (a)
d2hgdh 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004195 35
  • 59.3 (n)
  • 55.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3835 35
  • 58.53 (n)
  • 49.02 (a)
CG3835 36
  • 46 (a)
(Caenorhabditis elegans)
Secernentea CELE_F54D5.12 35
  • 48.95 (n)
  • 46.42 (a)
F54D5.12 36
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL021C 35
  • 58.69 (n)
  • 55.46 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05753g 35
  • 54.26 (n)
  • 55.39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD2 35
  • 54.14 (n)
  • 54.99 (a)
DLD2 36
  • 50 (a)
DLD3 36
  • 46 (a)
DLD2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G36400 35
  • 53.88 (n)
  • 56.7 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06441 35
  • 58.32 (n)
  • 55.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC713.03 35
  • 49.32 (n)
  • 50.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
Species with no ortholog for D2HGDH:
  • 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 (Oryza sativa)
  • 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 D2HGDH Gene

Gene Tree for D2HGDH (if available)
Gene Tree for D2HGDH (if available)

Paralogs for D2HGDH Gene

genes like me logo Genes that share paralogs with D2HGDH: view

No data available for Paralogs for D2HGDH Gene

Variants for D2HGDH Gene

Sequence variations from dbSNP and Humsavar for D2HGDH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1105273 Likely benign, - 241,751,330(+) GCACG(C/T)GCTGG reference, missense, intron-variant, nc-transcript-variant
rs1106416 -- 241,762,399(+) AGCTC(C/T)TTCCA intron-variant
rs1106639 Likely benign, - 241,751,260(+) TTTAC(A/G)TCCTC missense, reference, intron-variant, nc-transcript-variant
rs2002091 -- 241,762,357(+) gagcc(A/G)ccgcg intron-variant
rs2002092 -- 241,762,232(+) ACACC(C/T)GGCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for D2HGDH Gene

Variant ID Type Subtype PubMed ID
nsv876226 CNV Loss 21882294
dgv4493n71 CNV Loss 21882294
dgv4494n71 CNV Loss 21882294
dgv4495n71 CNV Loss 21882294
dgv165e55 CNV Loss 17911159
dgv4496n71 CNV Loss 21882294
nsv876242 CNV Loss 21882294
dgv4497n71 CNV Loss 21882294
dgv4498n71 CNV Loss 21882294
nsv876249 CNV Loss 21882294
nsv876250 CNV Gain 21882294
nsv876253 CNV Loss 21882294
nsv10230 CNV Loss 18304495
esv2722020 CNV Deletion 23290073
esv2722021 CNV Deletion 23290073
esv2722022 CNV Deletion 23290073
esv2722023 CNV Deletion 23290073
nsv876254 CNV Loss 21882294
nsv876255 CNV Loss 21882294
esv2722024 CNV Deletion 23290073
esv2722025 CNV Deletion 23290073
esv1249069 CNV Insertion 17803354
esv1008074 CNV Deletion 20482838
esv2656823 CNV Deletion 23128226
esv23937 CNV Gain 19812545
esv988977 CNV Gain 20482838
nsv513026 CNV Loss 21212237

Relevant External Links for D2HGDH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for D2HGDH Gene

Disorders for D2HGDH Gene

(1) OMIM Diseases for D2HGDH Gene (609186)


  • D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]: A rare recessive 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:15609246, ECO:0000269 PubMed:16037974, ECO:0000269 PubMed:16081310}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for D2HGDH Gene

Relevant External Links for D2HGDH

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with D2HGDH: view

No data available for Novoseek inferred disease relationships and Genatlas for D2HGDH Gene

Publications for D2HGDH Gene

  1. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. (PMID: 15070399) Achouri Y. … van Schaftingen E. (Biochem. J. 2004) 2 3 4
  2. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2- hydroxyglutaric aciduria. (PMID: 15609246) Struys E.A. … Jakobs C. (Am. J. Hum. Genet. 2005) 2 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  4. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. (PMID: 16037974) Struys E.A. … Jakobs C. (Ann. Neurol. 2005) 3 4
  5. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. (PMID: 16081310) Misra V.K. … Innis J.W. (Mol. Genet. Metab. 2005) 3 4

Products for D2HGDH Gene

Sources for D2HGDH Gene

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