Version 5.4
Homo sapiens Gene: D2HGDH
Summary
InnateDB Gene IDBG-85313.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol D2HGDH
Gene Name D-2-hydroxyglutarate dehydrogenase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000180902
Encoded Proteins
IDBP-85317
D-2-hydroxyglutarate dehydrogenase
IDBP-227467
D-2-hydroxyglutarate dehydrogenase
IDBP-295550
D-2-hydroxyglutarate dehydrogenase
IDBP-389730
D-2-hydroxyglutarate dehydrogenase
IDBP-389731
D-2-hydroxyglutarate dehydrogenase
IDBP-389732
D-2-hydroxyglutarate dehydrogenase
IDBP-389733
D-2-hydroxyglutarate dehydrogenase
IDBP-389734
D-2-hydroxyglutarate dehydrogenase
IDBP-389735
D-2-hydroxyglutarate dehydrogenase
IDBP-806979
D-2-hydroxyglutarate dehydrogenase
IDBP-806981
D-2-hydroxyglutarate dehydrogenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:241734579-241768816
Strand Forward strand
Band q37.3
Transcripts
ENST00000321264 ENSP00000315351
ENST00000400769 ENSP00000383580
ENST00000403782 ENSP00000384723
ENST00000436747 ENSP00000400212
ENST00000437164 ENSP00000412511
ENST00000454048 ENSP00000404596
ENST00000417686 ENSP00000392602
ENST00000432449 ENSP00000395837
ENST00000445308 ENSP00000387479
ENST00000463932
ENST00000496252
ENST00000467427
ENST00000486953
ENST00000470343
ENST00000473126
ENST00000468064
ENST00000612819 ENSP00000478983
ENST00000610344 ENSP00000481906
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors
GO:0050660 flavin adenine dinucleotide binding
GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity
Biological Process
GO:0006103 2-oxoglutarate metabolic process
GO:0010042 response to manganese ion
GO:0010043 response to zinc ion
GO:0032025 response to cobalt ion
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:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000073609
View Gene Order
ENSBTAG00000002847
Not yet available
Pathways
NETPATH
REACTOME
REACT_25367
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate pathway
REACT_1046
Pyruvate metabolism and Citric Acid (TCA) cycle pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q8N465
TrEMBL B3KP72 B5MCV2 F8WCF9 G5E9E8 H7C290 H7C3L2 Q8WYW4
UniProt Splice Variant
Entrez Gene 728294
UniGene Hs.516813 Hs.675279
RefSeq NM_001287249 NM_152783 XM_006712726
HUGO HGNC:28358
OMIM 609186
CCDS CCDS33426 CCDS74684
HPRD
IMGT
EMBL AC114730 AF318334 AK055846 AK304773 BC036604 BC071598 CH471063
GenPept AAH36604 AAH71598 AAL55841 AAX82020 BAG51584 BAG65528 EAW71291
RNA Seq Atlas 728294

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca