D2HGDH Gene (Protein Coding)

D-2-Hydroxyglutarate Dehydrogenase

GC02P241734
GIFtS:
42
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 neuromet... See more...

Aliases for D2HGDH Gene

Aliases for D2HGDH Gene

  • D-2-Hydroxyglutarate Dehydrogenase 2 3 5
  • D2HGD 2 3 4
  • D-2-Hydroxyglutarate Dehydrogenase, Mitochondrial 3 4
  • EC 1.1.99.- 4
  • EC 1.1.99 51
  • MGC25181 2
  • FLJ42195 2
  • D2HGDH 5

External Ids for D2HGDH Gene

Previous GeneCards Identifiers for D2HGDH Gene

  • GC02P9M0151
  • GC02P242323
  • GC02P242673
  • GC02P234429

Summaries for D2HGDH Gene

Entrez Gene Summary for D2HGDH Gene

  • 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]

GeneCards Summary for D2HGDH Gene

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with D2HGDH include D-2-Hydroxyglutaric Aciduria 1 and 2-Hydroxyglutaric Aciduria. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on CH-OH group of donors. An important paralog of this gene is LDHD.

UniProtKB/Swiss-Prot Summary for D2HGDH Gene

  • Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.

Gene Wiki entry for D2HGDH Gene

Additional gene information for D2HGDH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for D2HGDH Gene

Genomics for D2HGDH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for D2HGDH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around D2HGDH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for D2HGDH

Top Transcription factor binding sites by QIAGEN in the D2HGDH gene promoter:
  • AhR
  • Arnt
  • GATA-1
  • GATA-2
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pax-2
  • Pax-2a

Genomic Locations for D2HGDH Gene

Latest Assembly
chr2:241,734,602-241,768,816
(GRCh38/hg38)
Size:
34,215 bases
Orientation:
Plus strand

Previous Assembly
chr2:242,674,045-242,708,226
(GRCh37/hg19 by Entrez Gene)
Size:
34,182 bases
Orientation:
Plus strand

chr2:242,673,994-242,708,231
(GRCh37/hg19 by Ensembl)
Size:
34,238 bases
Orientation:
Plus strand

Genomic View for D2HGDH Gene

Genes around D2HGDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
D2HGDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for D2HGDH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for D2HGDH Gene

Proteins for D2HGDH Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for D2HGDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N465-D2HDH_HUMAN
    Recommended name:
    D-2-hydroxyglutarate dehydrogenase, mitochondrial
    Protein Accession:
    Q8N465
    Secondary Accessions:
    • B4E3L6
    • E7ENP2
    • Q6IQ24
    • Q8N5Q8

    Protein attributes for D2HGDH Gene

    Size:
    521 amino acids
    Molecular mass:
    56416 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX82020.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for D2HGDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for D2HGDH Gene

Protein Expression for D2HGDH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for D2HGDH Gene

Q8N465:
  • CQAGCVLE
  • LDPKGILNPYK
  • AKHVVGYGHLGDGNLHLNVT

Post-translational modifications for D2HGDH Gene

  • Ubiquitination at Lys64
  • Modification sites at PhosphoSitePlus

Other Protein References for D2HGDH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for D2HGDH Gene

Gene Families for D2HGDH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for D2HGDH Gene

InterPro:
Blocks:
  • FAD linked oxidase, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for D2HGDH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ31284 fis, clone KIDNE2006880, highly similar to D-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.-) (B3KP72_HUMAN)
  • cDNA FLJ61087, highly similar to D-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.-) (B4E3L6_HUMAN)
  • D-2-hydroxyglutarate dehydrogenase, mitochondrial (D2HDH_HUMAN)
  • cDNA FLJ42195 fis, clone THYMU2033787 (Q6ZVR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N465

UniProtKB/Swiss-Prot:

D2HDH_HUMAN :
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with D2HGDH: view

Function for D2HGDH Gene

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  6. Cell Lines for research

Molecular function for D2HGDH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-2-hydroxyglutarate + A = 2-oxoglutarate + AH2; Xref=Rhea:RHEA:38295, ChEBI:CHEBI:13193, ChEBI:CHEBI:15801, ChEBI:CHEBI:16810, ChEBI:CHEBI:17499;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by zinc and cobalt.

Enzyme Numbers (IUBMB) for D2HGDH Gene

Phenotypes From GWAS Catalog for D2HGDH Gene

Gene Ontology (GO) - Molecular Function for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity EXP,ISS 15070399
GO:0071949 FAD binding IEA --
genes like me logo Genes that share ontologies with D2HGDH: view
genes like me logo Genes that share phenotypes with D2HGDH: view

Human Phenotype Ontology for D2HGDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for D2HGDH

miRNA for D2HGDH Gene

miRTarBase miRNAs that target D2HGDH

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for D2HGDH

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for D2HGDH Gene

Localization for D2HGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for D2HGDH Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for D2HGDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS 15070399
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with D2HGDH: view

Pathways & Interactions for D2HGDH Gene

genes like me logo Genes that share pathways with D2HGDH: view

Gene Ontology (GO) - Biological Process for D2HGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0010042 response to manganese ion ISS 15070399
GO:0010043 response to zinc ion IEA,ISS 15070399
GO:0032025 response to cobalt ion ISS 15070399
GO:0032026 NOT response to magnesium ion ISS 15070399
genes like me logo Genes that share ontologies with D2HGDH: view

No data available for SIGNOR curated interactions for D2HGDH Gene

Drugs & Compounds for D2HGDH Gene

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(3) Drugs for D2HGDH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalt Approved, Experimental Pharma 208
FAD Approved Pharma 0
Oxogluric acid Experimental, Investigational Nutra 0

(2) Additional Compounds for D2HGDH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyglutarate
  • alpha-Hydroxyglutaric acid
  • alpha-Hydroxyglutarate
  • a-Hydroxyglutarate
  • a-Hydroxyglutaric acid
  • Α-hydroxyglutarate
 2889-31-8
D-2-Hydroxyglutaric acid
  • (R)-2-Hydroxyglutarate
  • (R)-Hydroxyglutarate
  • (R)-2-Hydroxyglutaric acid
  • (R)-Hydroxyglutaric acid
  • D-2-Hydroxyglutarate
 13095-47-1
genes like me logo Genes that share compounds with D2HGDH: view

Transcripts for D2HGDH Gene

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mRNA/cDNA for D2HGDH Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for D2HGDH

Alternative Splicing Database (ASD) splice patterns (SP) for D2HGDH Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - - -
SP6:
SP7: - -
SP8:

Relevant External Links for D2HGDH Gene

GeneLoc Exon Structure for
D2HGDH

Expression for D2HGDH Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for D2HGDH Gene

mRNA expression in normal human tissues for D2HGDH Gene
mRNA expression by GTEx for D2HGDH Gene

Protein differential expression in normal tissues from HIPED for D2HGDH Gene

This gene is overexpressed in Cervix (19.7), Liver (14.1), and Frontal cortex (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for D2HGDH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for D2HGDH

SOURCE GeneReport for Unigene cluster for D2HGDH Gene:

Hs.516813

Evidence on tissue expression from TISSUES for D2HGDH Gene

  • Nervous system(4.6)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for D2HGDH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • epiglottis
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • stomach
General:
  • blood
  • blood vessel
  • spinal cord
genes like me logo Genes that share expression patterns with D2HGDH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for D2HGDH Gene

Orthologs for D2HGDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for D2HGDH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia D2HGDH 30 31
  • 98.13 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia D2HGDH 30 31
  • 85.07 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia D2HGDH 30 31
  • 81.76 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia D2hgdh 30 17 31
  • 79.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia D2hgdh 30
  • 79.49 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia D2HGDH 31
  • 76 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia D2HGDH 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves D2HGDH 30 31
  • 70.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia D2HGDH 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia d2hgdh 30
  • 63.67 (n)
Zebrafish
(Danio rerio)
 Actinopterygii d2hgdh 30 31
  • 66.09 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004195 30
  • 59.3 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3835 30 31
  • 58.53 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea CELE_F54D5.12 30
  • 48.95 (n)
F54D5.12 31
  • 44 (a)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACL021C 30
  • 58.69 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F05753g 30
  • 54.26 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DLD2 30 31 33
  • 54.14 (n)
 OneToMany
DLD3 31
  • 46 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G36400 30
  • 53.88 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06441 30
  • 58.32 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 58 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPBC713.03 30
  • 49.32 (n)
Species where no ortholog for D2HGDH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for D2HGDH Gene

ENSEMBL:
Gene Tree for D2HGDH (if available)
TreeFam:
Gene Tree for D2HGDH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for D2HGDH: view image

Paralogs for D2HGDH Gene

Paralogs for D2HGDH Gene

(1) SIMAP similar genes for D2HGDH Gene using alignment to 11 proteins:

  • D2HDH_HUMAN
  • B4E3L6_HUMAN
  • B5MCV2_HUMAN
  • F6XUM0_HUMAN
  • F8WCF9_HUMAN
  • G5E9E8_HUMAN
  • H7BZ32_HUMAN
  • H7C021_HUMAN
  • H7C0N1_HUMAN
  • H7C290_HUMAN
  • H7C3L2_HUMAN
genes like me logo Genes that share paralogs with D2HGDH: view

Variants for D2HGDH Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for D2HGDH Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
834472 Uncertain Significance: D-2-hydroxyglutaric aciduria 1 241,751,287(+) G/A
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr) 		MISSENSE
853064 Uncertain Significance: D-2-hydroxyglutaric aciduria 1 241,742,567(+) C/T
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
857572 Uncertain Significance: D-2-hydroxyglutaric aciduria 1 241,743,646(+) G/A
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
871019 Pathogenic: not provided 241,743,671(+) T/G
NM_152783.5(D2HGDH):c.540T>G (p.Tyr180Ter) 		NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
895292 Uncertain Significance: D-2-hydroxyglutaric aciduria 1 241,734,653(+) C/A
NM_152783.5(D2HGDH):c.-135C>A 		NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for D2HGDH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for D2HGDH Gene

Variant ID Type Subtype PubMed ID
dgv165e55 CNV loss 17911159
dgv7395n54 CNV loss 21841781
esv1008074 CNV deletion 20482838
esv1249069 CNV insertion 17803354
esv23937 CNV gain 19812545
esv2656823 CNV deletion 23128226
esv2722020 CNV deletion 23290073
esv2722021 CNV deletion 23290073
esv2722022 CNV deletion 23290073
esv2722023 CNV deletion 23290073
esv2722024 CNV deletion 23290073
esv2722025 CNV deletion 23290073
esv3561319 CNV deletion 23714750
esv3594839 CNV loss 21293372
esv3893578 CNV loss 25118596
esv988977 CNV gain 20482838
nsv1002941 CNV gain 25217958
nsv1006733 CNV gain 25217958
nsv10230 CNV loss 18304495
nsv1072091 CNV deletion 25765185
nsv1136320 CNV deletion 24896259
nsv1143974 CNV deletion 24896259
nsv513026 CNV loss 21212237
nsv584975 CNV loss 21841781
nsv584976 CNV loss 21841781
nsv584977 CNV loss 21841781
nsv584978 CNV gain+loss 21841781
nsv584981 CNV loss 21841781
nsv955300 CNV deletion 24416366
nsv997984 CNV gain 25217958

Variation tolerance for D2HGDH Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.04; 92.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for D2HGDH Gene

Human Gene Mutation Database (HGMD)
D2HGDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
D2HGDH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for D2HGDH Gene

Disorders for D2HGDH Gene

MalaCards: The human disease database

(10) MalaCards diseases for D2HGDH Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

D2HDH_HUMAN
  • 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:0000269 PubMed:15609246, ECO:0000269 PubMed:16037974, ECO:0000269 PubMed:16081310}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for D2HGDH

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with D2HGDH: view

No data available for Genatlas for D2HGDH Gene

Publications for D2HGDH Gene

  1. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. (PMID: 15609246) Struys EA … Jakobs C (American journal of human genetics 2005) 2 3 4 74
  2. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. (PMID: 15070399) Achouri Y … Van Schaftingen E (The Biochemical journal 2004) 2 3 4
  3. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (PMID: 16442322) Struys EA … Jakobs C (Molecular genetics and metabolism 2006) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. (PMID: 16081310) Misra VK … Innis JW (Molecular genetics and metabolism 2005) 3 4

ExternalLinks

View latest publications for D2HGDH gene in Mastermind

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