Seroatlas · Human Serome Atlas

L2HGDH

L-2-hydroxyglutarate dehydrogenase, mitochondrial

Also known as: C14orf160, FLJ12618, L2HDH_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H9P8
Gene
L2HGDH
Ensembl
ENSG00000087299
Chromosome
14
Canonical length
463 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

463 residues, UniProt reviewed canonical sequence.

>Q9H9P8|L2HGDH
     1  MVPALRYLVG ACGRARGLFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
    61  LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL
   121  YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR
   181  GLMAIDCPHT GIVDYRQVAL SFAQDFQEAG GSVLTNFEVK GIEMAKESPS RSIDGMQYPI
   241  VIKNTKGEEI RCQYVVTCAG LYSDRISELS GCTPDPRIVP FRGDYLLLKP EKCYLVKGNI
   301  YPVPDSRFPF LGVHFTPRMD GSIWLGPNAV LAFKREGYRP FDFSATDVMD IIINSGLIKL
   361  ASQNFSYGVT EMYKACFLGA TVKYLQKFIP EITISDILRG PAGVRAQALD RDGNLVEDFV
   421  FDAGVGDIGN RILHVRNAPS PAATSSIAIS GMIADEVQQR FEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against L2HGDH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 18 nTPM
  • skeletal muscle: 15 nTPM
  • tongue: 14 nTPM
  • liver: 12 nTPM
  • retina: 9.9 nTPM
  • parathyroid gland: 5.8 nTPM

Single-cell type

  • cone photoreceptor cells: 211 nCPM
  • rod photoreceptor cells: 157 nCPM
  • proximal tubule cells: 118 nCPM
  • myonuclei: 105 nCPM
  • renal connecting tubule cells: 87 nCPM
  • retinal ganglion cells: 85 nCPM

Immune cell

  • basophil: 8.7 nTPM
  • MAIT T-cell: 2.2 nTPM
  • naive CD8 T-cell: 1.7 nTPM
  • NK-cell: 1.7 nTPM
  • T-reg: 1.6 nTPM
  • naive CD4 T-cell: 1.3 nTPM

Brain region

  • cerebellum: 23 nTPM
  • cerebral cortex: 21 nTPM
  • basal ganglia: 17 nTPM
  • white matter: 17 nTPM
  • hypothalamus: 16 nTPM
  • midbrain: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about L2HGDH.

Disease | AllUniProt

Conditions L2HGDH is implicated in, by any mechanism.

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 334 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.79
gnomAD pLI
0
gnomAD missense Z
0.42
DepMap mean gene effect
0.13
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • (S)-2-hydroxyglutarate dehydrogenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads L2HGDH as an antibody target. Whether an autoantibody or antibody against L2HGDH could matter depends on whether native L2HGDH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

L2HGDH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label L2HGDH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/L2HGDH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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