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L2hgdh L-2-hydroxyglutarate dehydrogenase [ Mus musculus (house mouse) ]

Gene ID: 217666, updated on 12-May-2024

Summary

Official Symbol
L2hgdhprovided by MGI
Official Full Name
L-2-hydroxyglutarate dehydrogenaseprovided by MGI
Primary source
MGI:MGI:2384968
See related
Ensembl:ENSMUSG00000020988 AllianceGenome:MGI:2384968
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable (S)-2-hydroxy-acid oxidase activity and 2-hydroxyglutarate dehydrogenase activity. Predicted to be involved in cellular protein metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; liver; telencephalon; and urinary system. Used to study L-2-hydroxyglutaric aciduria. 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, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 10.3), heart adult (RPKM 6.1) and 28 other tissues See more
Orthologs
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Genomic context

See L2hgdh in Genome Data Viewer
Location:
12 C2; 12 28.94 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (69737210..69771648, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (69690436..69724874, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene predicted gene, 31679 Neighboring gene STARR-positive B cell enhancer ABC_E10756 Neighboring gene STARR-seq mESC enhancer starr_32373 Neighboring gene chloride intracellular channel protein 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_32374 Neighboring gene STARR-positive B cell enhancer ABC_E2387 Neighboring gene STARR-positive B cell enhancer mm9_chr12:70834549-70834850 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene VISTA enhancer mm122 Neighboring gene cyclin dependent kinase like 1 Neighboring gene microRNA 681

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Transposon induced (1)  1 citation

Pathways from PubChem

General protein information

Preferred Names
L-2-hydroxyglutarate dehydrogenase, mitochondrial
Names
duranin
NP_663418.1

NCBI Reference Sequences (RefSeq)

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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_145443.2NP_663418.1  L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_663418.1

    Status: VALIDATED

    Source sequence(s)
    AK152450, AK168429, CJ087348
    Consensus CDS
    CCDS25953.1
    UniProtKB/Swiss-Prot
    Q3TH61, Q3U7Z0, Q3ULY6, Q91YP0
    Related
    ENSMUSP00000021370.9, ENSMUST00000021370.10
    Conserved Domains (2) summary
    PRK11728
    Location:62458
    PRK11728; hydroxyglutarate oxidase; Provisional
    cl21454
    Location:50449
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    69737210..69771648 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)