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    L2HGDH L-2-hydroxyglutarate dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 79944, updated on 5-Jan-2022

    Summary

    Official Symbol
    L2HGDHprovided by HGNC
    Official Full Name
    L-2-hydroxyglutarate dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:20499
    See related
    Ensembl:ENSG00000087299 MIM:609584
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    L2HGA; C14orf160
    Summary
    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 cognitive disability. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 5.2), fat (RPKM 1.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See L2HGDH in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50242434..50312229, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50709152..50778947, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1599 Neighboring gene valosin containing protein lysine methyltransferase Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene microRNA 4504 Neighboring gene Sharpr-MPRA regulatory region 14884 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene cyclin dependent kinase like 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    L-2-hydroxyglutaric aciduria
    MedGen: C1855995 OMIM: 236792 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables (S)-2-hydroxy-acid oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 2-hydroxyglutarate dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables 2-hydroxyglutarate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 2-hydroxyglutarate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in small molecule metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    L-2-hydroxyglutarate dehydrogenase, mitochondrial
    Names
    2-hydroxyglutarate dehydrogenase
    L-alpha-hydroxyglutarate dehydrogenase
    alpha-hydroxyglutarate oxidoreductase
    alpha-ketoglutarate reductase
    duranin
    NP_079160.1
    XP_005268132.1
    XP_011535468.1
    XP_011535469.1
    XP_011535470.1
    XP_016877144.1
    XP_016877145.1
    XP_016877146.1
    XP_016877147.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008092.1 RefSeqGene

      Range
      5001..74796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024884.3NP_079160.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_079160.1

      Status: REVIEWED

      Source sequence(s)
      AK022680, AL109758, AY757363, CA424871
      Consensus CDS
      CCDS9698.1
      UniProtKB/Swiss-Prot
      Q9H9P8
      Related
      ENSP00000267436.4, ENST00000267436.9
      Conserved Domains (2) summary
      PRK11728
      Location:61457
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:31448
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      50242434..50312229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268075.5XP_005268132.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005268132.1

      UniProtKB/Swiss-Prot
      Q9H9P8
      Related
      ENSP00000405559.3, ENST00000421284.7
      Conserved Domains (2) summary
      PRK11728
      Location:61457
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:31448
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. XM_017021657.2XP_016877146.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4

      Conserved Domains (1) summary
      cl21454
      Location:7266
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_011537166.3XP_011535468.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X2

      Conserved Domains (2) summary
      PRK11728
      Location:24420
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:12411
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_017021655.2XP_016877144.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X2

      Conserved Domains (2) summary
      PRK11728
      Location:24420
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:12411
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    5. XM_011537167.3XP_011535469.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X3

      Conserved Domains (2) summary
      PRK11728
      Location:16412
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:2403
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    6. XM_011537168.3XP_011535470.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4

      See identical proteins and their annotated locations for XP_011535470.1

      Conserved Domains (1) summary
      cl21454
      Location:7266
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    7. XM_017021656.2XP_016877145.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4

      Conserved Domains (1) summary
      cl21454
      Location:7266
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    8. XM_017021658.1XP_016877147.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X5

      Related
      ENSP00000450494.1, ENST00000555423.5
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