Homo sapiens Gene: L2HGDH
Summary
InnateDB Gene IDBG-5941.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol L2HGDH
Gene Name L-2-hydroxyglutarate dehydrogenase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000087299
Encoded Proteins
L-2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 mental retardation. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:50237563-50312548
Strand Reverse strand
Band q21.3
Transcripts
ENST00000261699 ENSP00000261699
ENST00000267436 ENSP00000267436
ENST00000421284 ENSP00000405559
ENST00000555423 ENSP00000450494
ENST00000555610 ENSP00000452483
ENST00000554191 ENSP00000451194
ENST00000556393
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016491 oxidoreductase activity
GO:0047545 2-hydroxyglutarate dehydrogenase activity
Biological Process
GO:0006103 2-oxoglutarate metabolic process
GO:0044237 cellular metabolic process
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
KEGG
Butanoate metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.256034
RefSeq NM_024884 XM_005268075
HUGO
OMIM
CCDS CCDS9698
HPRD 12640
IMGT
EMBL
GenPept
RNA Seq Atlas