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

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: human all
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Genomic context

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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney.
Title: Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney.
L2hgdh mutation leads to l-2-hydroxyglutarate accumulation, leukoencephalopathy, and neurodegeneration in mice.
Title: L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.
Data describe a mouse model of L-2-hydroxyglutaric aciduria where mouse with l2hgdh gene deficiency accumulates toxic levels of L-2-hydroxyglutarate mostly in brain and testis and shows significant brain spongiosis and learning deficit.
Title: A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transposon induced (1) 1 citation
Gene trapped (1)
Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

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	PubMed
enables oxidoreductase activity	IEA Inferred from Electronic Annotation 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	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: L-2-hydroxyglutarate dehydrogenase, mitochondrial

Names: duranin

NP_663418.1

EC 1.1.99.2

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)

NM_145443.2 → NP_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:62 → 458

PRK11728; hydroxyglutarate oxidase; Provisional

cl21454
Location:50 → 449

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins