InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: D2HGDH

Summary

InnateDB Protein

IDBP-85317.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

D2HGDH

Protein Name

D-2-hydroxyglutarate dehydrogenase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000315351

InnateDB Gene

IDBG-85313 (D2HGDH)

Protein Structure

UniProt Annotation

Function

Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. {ECO:0000269PubMed:15070399}.

Subcellular Localization

Mitochondrion {ECO:0000305PubMed:15070399}.

Disease Associations

D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. {ECO:0000269PubMed:15609246, ECO:0000269PubMed:16037974, ECO:0000269PubMed:16081310}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR004113 FAD-linked oxidase, C-terminal
IPR006094 FAD linked oxidase, N-terminal
IPR016164 FAD-linked oxidase-like, C-terminal
IPR016166 FAD-binding, type 2

PFAM

PF02913
PF01565

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8N465

PhosphoSite