U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    L2hgdh L-2-hydroxyglutarate dehydrogenase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 314196, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    L2hgdhprovided by RGD
    Official Full Name
    L-2-hydroxyglutarate dehydrogenaseprovided by RGD
    Primary source
    RGD:1306250
    See related
    EnsemblRapid:ENSRNOG00000004857 AllianceGenome:RGD:1306250
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1306250
    Summary
    Predicted to enable 2-hydroxyglutarate dehydrogenase activity. Predicted to be involved in small molecule metabolic process. Predicted to be located in membrane and mitochondrion. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; cerebellar ataxia; hereditary spastic paraplegia; and visual epilepsy. Orthologous to human L2HGDH (L-2-hydroxyglutarate dehydrogenase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 57.7), Heart (RPKM 55.7) and 9 other tissues See more
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See L2hgdh in Genome Data Viewer
    Location:
    6q24
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (93900427..93941534, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (88164429..88205585, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (92016560..92057643, complement)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene acid phosphatase 1, pseudogene 1 Neighboring gene chloride intracellular channel protein 4 pseudogene Neighboring gene distal membrane arm assembly component 2 like Neighboring gene uncharacterized LOC102548655 Neighboring gene cyclin dependent kinase like 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. Tai H, et al. BMC Neurol, 2015 Jul 25. PMID 26208971, Free PMC Article
    2. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Faiyaz-Ul-Haque M, et al. Ann Saudi Med, 2014 Mar-Apr. PMID 24894778, Free PMC Article
    3. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. Rzem R, et al. PLoS One, 2015. PMID 25763823, Free PMC Article
    4. Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. Jellouli NK, et al. J Hum Genet, 2014 Apr. PMID 24573090
    5. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Rzem R, et al. Biochimie, 2006 Jan. PMID 16005139

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 2-hydroxyglutarate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 2-hydroxyglutarate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in small molecule metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    L-2-hydroxyglutarate dehydrogenase, mitochondrial
    NP_001101498.1
    XP_038968180.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    mRNA and Protein(s)

    1. NM_001108028.1 → NP_001101498.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial

      See identical proteins and their annotated locations for NP_001101498.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473947
      UniProtKB/TrEMBL
      A0A8I6A287, A6HBX1
      Related
      ENSRNOP00000006473.4, ENSRNOT00000006473.6
      Conserved Domains (2) summary
      PRK11728
      Location:61 → 457
      PRK11728; hydroxyglutarate oxidase; Provisional
      cl21454
      Location:49 → 448
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      93900427..93941534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039112252.2 → XP_038968180.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK11728
      Location:61 → 180
      PRK11728; L-2-hydroxyglutarate oxidase
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools