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 5
  • 2-Hydroxyglutarate Dehydrogenase 2 3
  • EC 4 61
  • C14orf160 3 4
  • 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 Pyruvate metabolism and Citric Acid (TCA) cycle. GO annotations related to this gene include oxidoreductase activity and 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

Regulatory Elements for L2HGDH Gene

Enhancers for L2HGDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F050820 0.9 ENCODE 4.6 -510.1 -510110 5.3 HDGF TBP PKNOX1 TBL1XR1 INSM2 ZNF2 ZNF366 SCRT2 ZNF391 CREM L2HGDH LOC105370489 NIN
GH14F050834 1.2 FANTOM5 Ensembl ENCODE 4.3 -522.9 -522866 1.6 MLX ARID4B RARA KAT2B GATA4 CREM MIXL1 THAP11 USF2 CEBPB L2HGDH NIN ENSG00000252945
GH14F050845 0.2 ENCODE 4.3 -534.1 -534096 1.3 JUND FOS MAFK PYGL L2HGDH ENSG00000252945 ENSG00000258687
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around L2HGDH on UCSC Golden Path with GeneCards custom track

Promoters for L2HGDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001457022 647 2600 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 ZNF263

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

Genes around L2HGDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L2HGDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for L2HGDH Gene

Post-translational modifications for L2HGDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families 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 IEA --
GO:0047545 2-hydroxyglutarate dehydrogenase activity IDA 16005139
genes like me logo Genes that share ontologies with L2HGDH: view
genes like me logo Genes that share phenotypes with L2HGDH: view

Human Phenotype Ontology for L2HGDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for L2HGDH Gene

miRTarBase miRNAs that target L2HGDH

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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 & Interactions for L2HGDH Gene

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

Interacting Proteins for L2HGDH Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
Selected Interacting proteins: ENSP00000267436 Q9H9P8-L2HDH_HUMAN for L2HGDH Gene via STRING IID

Gene Ontology (GO) - Biological Process for L2HGDH Gene

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

No data available for SIGNOR curated interactions for L2HGDH Gene

Drugs & Compounds for L2HGDH Gene

(1) Drugs for L2HGDH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0

(4) Additional Compounds for L2HGDH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1,5-Dihydro-FAD
  • 1,5-Dihydro-P-5-ester with adenosine
  • 1,5-Dihydro-Riboflavin 5'-(trihydrogen diphosphate) P'->5'-ester with adenosine
  • Adenosine 5'-(trihydrogen pyrophosphate), 5'-5'-ester with 5,10-dihydro-7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)alloxazine
  • Adenosine 5'-(trihydrogen pyrophosphate), 5'->5'-ester with 5,10-dihydro-7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)alloxazine
L-2-Hydroxyglutaric acid
  • (S)-2-Hydroxyglutarate
  • (S)-2-Hydroxyglutaric acid
  • (S)-a-Hydroxyglutarate
  • (S)-a-Hydroxyglutaric acid
  • (S)-alpha-Hydroxyglutarate
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
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

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 from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for L2HGDH Gene

Protein tissue co-expression partners for L2HGDH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of L2HGDH Gene:


SOURCE GeneReport for Unigene cluster for L2HGDH Gene:


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 expression patterns with L2HGDH: view

Primer 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
(Pan troglodytes)
Mammalia L2HGDH 34 35
  • 99.14 (n)
(Canis familiaris)
Mammalia L2HGDH 34 35
  • 91.07 (n)
(Bos Taurus)
Mammalia L2HGDH 34 35
  • 90.28 (n)
(Mus musculus)
Mammalia L2hgdh 34 16 35
  • 84.38 (n)
(Rattus norvegicus)
Mammalia L2hgdh 34
  • 83.95 (n)
(Ornithorhynchus anatinus)
Mammalia L2HGDH 35
  • 67 (a)
(Gallus gallus)
Aves L2HGDH 34 35
  • 72.38 (n)
(Anolis carolinensis)
Reptilia L2HGDH 35
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia l2hgdh 34
  • 71.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30010 34
(Danio rerio)
Actinopterygii l2hgdh 34 35
  • 64.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10639 34 35
  • 56.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007868 34
  • 55.48 (n)
(Caenorhabditis elegans)
Secernentea Y45G12B.3 34 35
  • 56.85 (n)
Species where no ortholog for L2HGDH was found in the sources mined by GeneCards:
  • 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
rs118204020 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792], Pathogenic 50,269,164(-) TTATC(C/T)GGTAG reference, missense
rs118204021 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792], Pathogenic 50,302,994(-) CGTTG(A/G)TGGCG reference, missense, utr-variant-5-prime
rs199690954 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] 50,302,989(+) AATTC(C/T)GCCAC reference, missense, utr-variant-5-prime
rs267607206 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792], Pathogenic 50,302,132(-) CATAC(A/G)TAGTG reference, missense, utr-variant-5-prime
rs750044734 L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] 50,247,149(+) TCACA(G/T)GAAGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv2664640 CNV deletion 23128226
esv28926 CNV gain+loss 19812545
esv3551539 CNV deletion 23714750
esv3634474 CNV loss 21293372
esv3634475 CNV loss 21293372
esv3634476 CNV loss 21293372
nsv1052059 CNV loss 25217958
nsv1122900 CNV deletion 24896259
nsv564835 CNV gain 21841781
nsv832793 CNV loss 17160897

Variation tolerance for L2HGDH Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for L2HGDH Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L2HGDH Gene

Disorders for L2HGDH Gene

MalaCards: The human disease database

(5) MalaCards diseases for L2HGDH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
l-2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria
  • 2-hga
d-2-hydroxyglutaric aciduria
  • d-2-hga
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
abdominal obesity-metabolic syndrome 1
  • metabolic syndrome x
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for L2HGDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. 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 22 64
  3. 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 22 64
  4. 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 22 64
  5. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. (PMID: 20052767) Steenweg M.E. … Salomons G.S. (Hum. Mutat. 2010) 3 22 64

Products for L2HGDH Gene

Sources for L2HGDH Gene

Loading form....