• Gene id: 79944

Gene Summary

• Gene Symbol: L2HGDH   Gene   UCSC   Ensembl
• Aliases: C14orf160, L2HGA
• Gene name: L-2-hydroxyglutarate dehydrogenase
• Alternate names: L-2-hydroxyglutarate dehydrogenase, mitochondrial, 2-hydroxyglutarate dehydrogenase, L-alpha-hydroxyglutarate dehydrogenase, alpha-hydroxyglutarate oxidoreductase, alpha-ketoglutarate reductase, duranin,
• Gene location: 14q21.3 (50312228: 50242433)     Exons: 15     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 238310

Protein Summary

• Protein general information: Q9H9P8  
  • Name: L 2 hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.2) (Duranin)
  • Length: 463  
  • Mass: 50316
  • Tissue specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. {ECO
• Sequence:

  MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLS
  IGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQ
  ALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMA
  KESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNI
  YPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKA
  CFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAIS
  GMIADEVQQRFEL

• Structural information:
  • Interpro: IPR006076  IPR036188  
  • STRING: ENSP00000267436
• Other Databases: GeneCards:  L2HGDH  Malacards:  L2HGDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044267	cellular protein metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0047545	2-hydroxyglutarate dehydrogenase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0031305	integral component of mitochondrial inner membrane	NAS	cellular component
GO:0047545	2-hydroxyglutarate dehydrogenase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0047545	2-hydroxyglutarate dehydrogenase activity	IEA	molecular function
GO:0047545	2-hydroxyglutarate dehydrogenase activity	EXP	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
L-2-hydroxyglutaric aciduria	KEGG:H01280
L-2-hydroxyglutaric aciduria	KEGG:H01280
2-hydroxyglutaric aciduria	PMID:24894778
2-hydroxyglutaric aciduria	PMID:26208971
L-2-hydroxyglutaric aciduria	PMID:24573090
Cerebellar ataxia	PMID:24573090
Visual epilepsy	PMID:24894778
Hereditary spastic paraplegia	PMID:24573090
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R