D2HGDH D-2-hydroxyglutarate dehydrogenase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: D2HGDHprovided by HGNC
Official Full Name: D-2-hydroxyglutarate dehydrogenaseprovided by HGNC
Primary source: HGNC:28358
Locus tag: hCG_31745
See related: Ensembl:ENSG00000180902; HPRD:14502; MIM:609186; Vega:OTTHUMG00000151474
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D2HGD
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]

Genomic context

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Location :: 2q37.3

Sequence :: Chromosome: 2; NC_000002.11 (242674030..242708231)

See D2HGDH in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

D2HGDH mutation is not associated with glioblastoma.
Title: Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.
We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours
Title: Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in the D2HGDH gene
Title: Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp).
Title: Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

D-2-hydroxyglutaric aciduria 1

MIM: 600721

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:608722	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Interconversion of 2-oxoglutarate and 2-hydroxyglutarate, organism-specific biosystem (from REACTOME)
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate, organism-specific biosystemThe two stereoisomers of 2-hydroxyglutarate are normally converted to 2-oxoglutarate in the mitochondrial matrix, and can then be metabolized by the citric acid cycle. The physiological sources of 2-...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

General gene information

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Markers

D10S16 (e-PCR)
- UniSTS:155756

G16336 (e-PCR)
- UniSTS:17540

Genotypes

See D2HGDH SNP Geneview Report
See D2HGDH SNP Variation Viewer Report

Homology

Homologs of the D2HGDH gene: The D2HGDH gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, and A.thaliana.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
(R)-2-hydroxyglutarate dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
UDP-N-acetylmuramate dehydrogenase activity	IEA Inferred from Electronic Annotation more info
flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
2-oxoglutarate metabolic process	TAS Traceable Author Statement more info
cellular protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
NOT response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
response to cobalt ion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
NOT response to magnesium ion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
response to manganese ion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
response to zinc ion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: D-2-hydroxyglutarate dehydrogenase, mitochondrial

Names: D-2-hydroxyglutarate dehydrogenase, mitochondrial

NP_689996.4

EC 1.1.99.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012012.1 RefSeqGene

Range

5001..39202

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152783.3 → NP_689996.4 D-2-hydroxyglutarate dehydrogenase, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC114730, BC036604, CB997999, CK300805, DA927909

Consensus CDS

CCDS33426.1

UniProtKB/Swiss-Prot

Q8N465

Related

ENSP00000315351, OTTHUMP00000200072, ENST00000321264, OTTHUMT00000322794

Conserved Domains (2) summary

COG0277
Location:69 – 520
Blast Score: 704

GlcD; FAD/FMN-containing dehydrogenases [Energy production and conversion]

pfam01565
Location:101 – 238
Blast Score: 323

FAD_binding_4; FAD binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

242674030..242708231

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

234429166..234461318

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

242034626..242067395

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01006065.1 (20884..53036)	None
genomic	AC114730.5	AAX82020.1
genomic	AC133781.4 (151186..183723)	None
genomic	AMYH01011634.1 (97345..130114)	None
genomic	CH471063.1	EAW71290.1
		EAW71291.1
		EAW71292.1
mRNA	AF318334.1	AAL55841.1
mRNA	AK027102.1	None
mRNA	AK055846.1	BAG51584.1
mRNA	AK091725.1	BAG52404.1
mRNA	AK094149.1	BAG52828.1
mRNA	AK096060.1	BAG53205.1
mRNA	AK124189.1	BAC85798.1
mRNA	AK304764.1	BAG65519.1
mRNA	AK304773.1	BAG65528.1
mRNA	AK315188.1	BAG37628.1
mRNA	BC031817.1	None
mRNA	BC036604.2	AAH36604.2
mRNA	BC071598.1	AAH71598.1
mRNA	BC073980.1	None
mRNA	CB997999.1	None
mRNA	CK300805.1	None
mRNA	DA927909.1	None