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

Gene ID: 79944, updated on 1-Jun-2020

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

Genomic context

See L2HGDH in Genome Data Viewer
Location:
14q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50242434..50312229, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50704285..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 distal membrane arm assembly complex 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

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA 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
(S)-2-hydroxy-acid oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
2-hydroxyglutarate dehydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
2-hydroxyglutarate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
2-hydroxyglutarate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
2-oxoglutarate metabolic process TAS
Traceable Author Statement
more info
 
cellular protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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.

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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