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

Gene ID: 728294, updated on 19-Jul-2014
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
VALIDATED
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]
See D2HGDH in Epigenomics, MapViewer
Location:
2q37.3
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (241734579..241768816)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242674030..242708231)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927187 Neighboring gene inhibitor of growth family, member 5 Neighboring gene galactose-3-O-sulfotransferase 2 Neighboring gene basic salivary proline-rich protein 4-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42195, MGC25181

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 metabolic process TAS
Traceable Author Statement
more info
 
cellular protein metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
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 
Preferred Names
D-2-hydroxyglutarate dehydrogenase, mitochondrial
Names
D-2-hydroxyglutarate dehydrogenase, mitochondrial
NP_001274178.1
NP_689996.4

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

  1. NG_012012.1 

    Range
    4965..39202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001287249.1NP_001274178.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK094149, AK304764, AK304773, BC031817, BC036604, BC073980
    UniProtKB/TrEMBL
    B3KSR6
    UniProtKB/TrEMBL
    B4E3K7
    UniProtKB/TrEMBL
    B5MCV2
    UniProtKB/Swiss-Prot
    Q8N465
    Conserved Domains (3) summary
    TIGR00387
    Location:3381
    Blast Score: 528
    glcD; glycolate oxidase, subunit GlcD
    pfam01565
    Location:2104
    Blast Score: 247
    FAD_binding_4; FAD binding domain
    pfam02913
    Location:141381
    Blast Score: 522
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  2. NM_152783.4NP_689996.4  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor

    See proteins identical to NP_689996.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK304764, AK304773, BC031817, BC036604, BC071598
    Consensus CDS
    CCDS33426.1
    UniProtKB/TrEMBL
    B4E3K7
    UniProtKB/Swiss-Prot
    Q8N465
    Related
    ENSP00000315351, OTTHUMP00000200072, ENST00000321264, OTTHUMT00000322794
    Conserved Domains (3) summary
    COG0277
    Location:69520
    Blast Score: 845
    GlcD; FAD/FMN-containing dehydrogenases [Energy production and conversion]
    pfam01565
    Location:101238
    Blast Score: 333
    FAD_binding_4; FAD binding domain
    pfam02913
    Location:275515
    Blast Score: 522
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain

RNA

  1. NR_109778.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK091725, AK304764, AK304773, BC031817, BC073980

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    241734579..241768816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712726.1XP_006712789.1  

    UniProtKB/TrEMBL
    F6XUM0
    Conserved Domains (2) summary
    COG0277
    Location:69286
    Blast Score: 547
    GlcD; FAD/FMN-containing dehydrogenases [Energy production and conversion]
    pfam01565
    Location:101238
    Blast Score: 330
    FAD_binding_4; FAD binding domain

RNA

  1. XR_241434.2 RNA Sequence

  2. XR_427110.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    234429130..234461318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    242680105..242712785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)