Free for academic non-profit institutions. Other users need a Commercial license

Aliases for L2HGDH Gene

Aliases for L2HGDH Gene

  • L-2-Hydroxyglutarate Dehydrogenase 2 3
  • C14orf160 3 4 6
  • 2-Hydroxyglutarate Dehydrogenase 2 3
  • EC 4 63
  • Duranin 3 4
  • L-2-Hydroxyglutarate Dehydrogenase, Mitochondrial 3
  • L-Alpha-Hydroxyglutarate Dehydrogenase 3
  • Alpha-Hydroxyglutarate Oxidoreductase 3
  • Chromosome 14 Open Reading Frame 160 2
  • Alpha-Ketoglutarate Reductase 3
  • L2HGA 3

External Ids for L2HGDH Gene

Previous HGNC Symbols for L2HGDH Gene

  • C14orf160

Previous GeneCards Identifiers for L2HGDH Gene

  • GC14M049775
  • GC14M050704
  • GC14M030834

Summaries for L2HGDH Gene

Entrez Gene Summary for L2HGDH Gene

  • This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]

GeneCards Summary for L2HGDH Gene

L2HGDH (L-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with L2HGDH include l-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 2-hydroxyglutarate dehydrogenase activity.

Gene Wiki entry for L2HGDH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for L2HGDH Gene

Genomics for L2HGDH Gene

Epigenetics Products

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

Genomic Location for L2HGDH Gene

50,237,563 bp from pter
50,312,548 bp from pter
74,986 bases
Minus strand

Genomic View for L2HGDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for L2HGDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L2HGDH Gene

Proteins for L2HGDH Gene

  • Protein details for L2HGDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    L-2-hydroxyglutarate dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q9BRR1

    Protein attributes for L2HGDH Gene

    463 amino acids
    Molecular mass:
    50316 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    • Was named duranin in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria

    Alternative splice isoforms for L2HGDH Gene


neXtProt entry for L2HGDH Gene

Proteomics data for L2HGDH Gene at MOPED

Selected DME Specific Peptides for L2HGDH Gene

Post-translational modifications for L2HGDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for L2HGDH Gene

Domains for L2HGDH Gene

Protein Domains for L2HGDH Gene


Suggested Antigen Peptide Sequences for L2HGDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the L2HGDH family.
  • Belongs to the L2HGDH family.
genes like me logo Genes that share domains with L2HGDH: view

No data available for Gene Families for L2HGDH Gene

Function for L2HGDH Gene

Molecular function for L2HGDH Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=800 uM for L-2-hydroxyglutarate {ECO:0000269 PubMed:16005139};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor.

Enzyme Numbers (IUBMB) for L2HGDH Gene

Gene Ontology (GO) - Molecular Function for L2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity --
GO:0047545 2-hydroxyglutarate dehydrogenase activity IDA 16005139
genes like me logo Genes that share ontologies with L2HGDH: view

Animal Model Products

miRNA for L2HGDH Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for L2HGDH

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for L2HGDH Gene

Localization for L2HGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for L2HGDH Gene


Subcellular locations from

Jensen Localization Image for L2HGDH Gene COMPARTMENTS Subcellular localization image for L2HGDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
cytoskeleton 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for L2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16005139
GO:0005743 mitochondrial inner membrane TAS --
GO:0016021 integral component of membrane IDA 16005139
GO:0031305 integral component of mitochondrial inner membrane NAS 16005139
genes like me logo Genes that share ontologies with L2HGDH: view

Pathways for L2HGDH Gene

genes like me logo Genes that share pathways with L2HGDH: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for L2HGDH Gene

Gene Ontology (GO) - Biological Process for L2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044267 cellular protein metabolic process IDA 16005139
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with L2HGDH: view

Drugs for L2HGDH Gene

(5) HMDB Compounds for L2HGDH Gene

Compound Synonyms Cas Number PubMed IDs
  • 1H-Purin-6-amine flavin dinucleotide
  • 1,5-Dihydro-FAD
L-2-Hydroxyglutaric acid
  • (S)-2-Hydroxyglutarate
Oxoglutaric acid
  • 2-Ketoglutarate
genes like me logo Genes that share compounds with L2HGDH: view

Transcripts for L2HGDH Gene

Unigene Clusters for L2HGDH Gene

L-2-hydroxyglutarate dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for L2HGDH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for L2HGDH Gene

No ASD Table

Relevant External Links for L2HGDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for L2HGDH Gene

mRNA expression in normal human tissues for L2HGDH Gene

Protein differential expression in normal tissues for L2HGDH Gene

This gene is overexpressed in Heart (10.5), Peripheral blood mononuclear cells (9.4), and Stomach (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for L2HGDH Gene

SOURCE GeneReport for Unigene cluster for L2HGDH Gene Hs.256034

mRNA Expression by UniProt/SwissProt for L2HGDH Gene

Tissue specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow.
genes like me logo Genes that share expressions with L2HGDH: view

Expression partners for L2HGDH Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for L2HGDH Gene

Orthologs for L2HGDH Gene

This gene was present in the common ancestor of animals.

Orthologs for L2HGDH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia L2HGDH 35
  • 90.28 (n)
  • 88.55 (a)
  • 89 (a)
(Canis familiaris)
Mammalia L2HGDH 35
  • 91.07 (n)
  • 89.2 (a)
  • 61 (a)
(Mus musculus)
Mammalia L2hgdh 35
  • 84.38 (n)
  • 82.51 (a)
L2hgdh 16
L2hgdh 36
  • 82 (a)
(Pan troglodytes)
Mammalia L2HGDH 35
  • 99.14 (n)
  • 98.49 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia L2hgdh 35
  • 83.95 (n)
  • 80.56 (a)
(Ornithorhynchus anatinus)
Mammalia L2HGDH 36
  • 67 (a)
(Gallus gallus)
Aves L2HGDH 35
  • 72.38 (n)
  • 73.94 (a)
  • 72 (a)
(Anolis carolinensis)
Reptilia L2HGDH 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia l2hgdh 35
  • 71.01 (n)
  • 72.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30010 35
(Danio rerio)
Actinopterygii l2hgdh 35
  • 64.99 (n)
  • 66.75 (a)
l2hgdh 36
  • 63 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007868 35
  • 55.48 (n)
  • 57.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10639 35
  • 56.92 (n)
  • 57 (a)
CG10639 36
  • 52 (a)
(Caenorhabditis elegans)
Secernentea Y45G12B.3 35
  • 56.85 (n)
  • 55.58 (a)
Y45G12B.3 36
  • 54 (a)
Species with no ortholog for L2HGDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for L2HGDH Gene

Gene Tree for L2HGDH (if available)
Gene Tree for L2HGDH (if available)

Paralogs for L2HGDH Gene

No data available for Paralogs for L2HGDH Gene

Variants for L2HGDH Gene

Sequence variations from dbSNP and Humsavar for L2HGDH Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs737077 -- 50,247,476(+) ACAAA(C/T)GCTTA intron-variant
rs737078 -- 50,247,556(+) CCACA(C/T)TTAAT intron-variant
rs737079 -- 50,247,614(+) AAAAT(A/C)AATCA intron-variant
rs743075 -- 50,248,267(-) GATAG(A/G)ATTTT intron-variant
rs743076 -- 50,248,501(+) TTAAG(A/G)GGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for L2HGDH Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV Gain+Loss 19812545
esv2664640 CNV Deletion 23128226
nsv832793 CNV Loss 17160897

Relevant External Links for L2HGDH 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 L2HGDH Gene

Disorders for L2HGDH Gene

(1) OMIM Diseases for L2HGDH Gene (609584)


  • L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. {ECO:0000269 PubMed:15385440, ECO:0000269 PubMed:15548604, ECO:0000269 PubMed:16134148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for L2HGDH Gene

(1) Novoseek inferred disease relationships for L2HGDH Gene

Disease -log(P) Hits PubMed IDs
metabolic disorder 57.6 1

Relevant External Links for L2HGDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with L2HGDH: view

No data available for Genatlas for L2HGDH Gene

Publications for L2HGDH Gene

  1. The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2- hydroxyglutarate dehydrogenase. (PMID: 16005139) Rzem R. … Veiga-da-Cunha M. (Biochimie 2006) 2 3 4 23
  2. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. (PMID: 15385440) Topcu M. … Fischer J. (Hum. Mol. Genet. 2004) 3 4 23
  3. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. (PMID: 15548604) Rzem R. … van Schaftingen E. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  4. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. (PMID: 16134148) Vilarinho L. … Jakobs C. (Hum. Mutat. 2005) 3 4 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for L2HGDH Gene

Sources for L2HGDH Gene

Back to Top