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D2HGDH Gene

protein-coding   GIFtS: 61
GCID: GC02P242673

D-2-Hydroxyglutarate Dehydrogenase

  See D2HGDH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
D-2-Hydroxyglutarate Dehydrogenase1 2
D2HGD2 3 5
D-2-Hydroxyglutarate Dehydrogenase, Mitochondrial2
EC 1.1.99.-3
EC 1.1.998

External Ids:    HGNC: 283581   Entrez Gene: 7282942   Ensembl: ENSG000001809027   OMIM: 6091865   UniProtKB: Q8N4653   
ORGUL members:         

Export aliases for D2HGDH gene to outside databases

Previous GC identifers: GC02P9M0151 GC02P242323 GC02P234429


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 d-2-hydroxyglutaric aciduria. GO annotations related to this gene include (R)-2-hydroxyglutarate dehydrogenase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: D2HDH_HUMAN, Q8N465
Function: Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate

Gene Wiki entry for D2HGDH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the D2HGDH gene promoter:
         AhR   MyoD   Pax-2   Pax-2a   NF-kappaB   Arnt   GATA-2   GATA-1   NF-kappaB2   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for D2HGDH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat D2HGDH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2p25.3

D2HGDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
D2HGDH gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P242673:  view genomic region     (about GC identifiers)

Start:
242,673,994 bp from pter      End:
242,708,231 bp from pter
Size:
34,238 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: D2HDH_HUMAN, Q8N465 (See protein sequence)
Recommended Name: D-2-hydroxyglutarate dehydrogenase, mitochondrial precursor  
Size: 521 amino acids; 56416 Da
Cofactor: FAD (Potential)
Sequence caution: Sequence=AAX82020.1; Type=Erroneous gene model prediction;
Secondary accessions: Q6IQ24 Q8N5Q8
Alternative splicing: 2 isoforms:  Q8N465-1   Q8N465-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for D2HGDH: NX_Q8N465

Explore proteomics data for D2HGDH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys64
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for D2HGDH (Q8N465)
     CQAGCVLE  LDPKGILNPYK  AKHVVGYGHLGDGNLHLNVT 


    See D2HGDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001274178.1  NP_689996.4  

    ENSEMBL proteins: 
     ENSP00000315351   ENSP00000384723   ENSP00000400212   ENSP00000383580   ENSP00000412511  
     ENSP00000404596   ENSP00000392602   ENSP00000395837   ENSP00000387479   ENSP00000339536  
     ENSP00000442796  
    Reactome Protein details: Q8N465

    D2HGDH Human Recombinant Protein Products:

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    antibodies-online peptides for D2HGDH

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR016167 FAD-bd_2_sub1
     IPR016166 FAD-bd_2
     IPR016171 Vanillyl_alc_oxidase_C-sub2
     IPR016164 FAD-linked_Oxase-like_C
     IPR006094 Oxid_FAD_bind_N

    Graphical View of Domain Structure for InterPro Entry Q8N465

    ProtoNet protein and cluster: Q8N465

    1 Blocks protein domain: IPB004113 FAD linked oxidase

    UniProtKB/Swiss-Prot: D2HDH_HUMAN, Q8N465
    Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 family
    Similarity: Contains 1 FAD-binding PCMH-type domain


    Find genes that share domains with D2HGDH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: D2HDH_HUMAN, Q8N465
    Function: Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate
    Catalytic activity: (R)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor
    Enzyme regulation: Activated by zinc and cobalt

         Enzyme Numbers (IUBMB): EC 1.1.992 EC 1.1.99.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008762UDP-N-acetylmuramate dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016614oxidoreductase activity, acting on CH-OH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    Find genes that share ontologies with D2HGDH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for D2HGDH:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for D2HGDH

    miRNA
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    miRTarBase miRNAs that target D2HGDH:
    hsa-mir-34a-5p (MIRT047376)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    D2HDH_HUMAN, Q8N465: Mitochondrion (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS15070399
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with D2HGDH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for D2HGDH About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Interconversion of 2-oxoglutarate and 2-hydroxyglutarate0.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    3Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with D2HGDH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for D2HGDH
        Interconversion of 2-oxoglutarate and 2-hydroxyglutarate


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for D2HGDH
    Interactions:

        Search GeneGlobe Interaction Network for D2HGDH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for D2HGDH (Q8N4651, 3 ENSP000003153514) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB25P577351, 3, ENSP000003543764EBI-1053783,EBI-1050500 I2D: score=1 STRING: ENSP00000354376
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    ACTG1P632613, ENSP000003315144I2D: score=2 STRING: ENSP00000331514
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACOX1Q150673I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process TAS--
    GO:0010042response to manganese ion ISS15070399
    GO:0010043response to zinc ion ISS15070399
    GO:0032025response to cobalt ion ISS15070399
    GO:0032026NOT response to magnesium ion ISS15070399

    Find genes that share ontologies with D2HGDH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for D2HGDH (D2HDH)

    2 HMDB Compounds for D2HGDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CobaltCo (see all 6)7440-48-4--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for D2HGDH gene (2 alternative transcripts): 
    NM_001287249.1  NM_152783.4  

    Unigene Cluster for D2HGDH:

    D-2-hydroxyglutarate dehydrogenase
    Hs.516813  [show with all ESTs]
    Unigene Representative Sequence: NM_152783
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321264(uc002wce.1 uc010fzq.1 uc002wcg.1) ENST00000403782
    ENST00000436747(uc010zpc.1) ENST00000400769 ENST00000463932 ENST00000437164
    ENST00000454048 ENST00000417686 ENST00000432449 ENST00000496252 ENST00000467427
    ENST00000486953(uc002wch.3) ENST00000470343 ENST00000473126(uc002wci.2)
    ENST00000468064 ENST00000445308 ENST00000342518 ENST00000537090
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      QuantiFast Probe-based Assays in human, mouse, rat D2HGDH

    Additional mRNA sequence: 

    AF318334.1 AK027102.1 AK091725.1 AK094149.1 AK304764.1 AK304773.1 AK311066.1 AK315188.1 
    BC031817.1 BC036604.2 

    11 DOTS entries:

    DT.92068331  DT.99969480  DT.75139555  DT.95211512  DT.108618  DT.121001808  DT.99937479  DT.100781756 
    DT.108617  DT.102828291  DT.121001801 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for D2HGDH (see all 8)    About this scheme

    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:                                                                                            -     -     -                           


    ECgene alternative splicing isoforms for D2HGDH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    D2HGDH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTCCAGT
    D2HGDH Expression
    About this image

    D2HGDH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    D2HGDH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516813
        Custom PCR Arrays for D2HGDH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for D2HGDH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for D2HGDH gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D2hgdh1 , 5 D-2-hydroxyglutarate dehydrogenase1, 5 79.66(n)1
    82.07(a)1
      1 (47.36 cM)5
    983141  NM_178882.31  NP_849213.21 
     938252405 
    chicken
    (Gallus gallus)
    Aves D2HGDH1 D-2-hydroxyglutarate dehydrogenase 70.33(n)
    71.96(a)
      424853  XM_422664.4  XP_422664.3 
    lizard
    (Anolis carolinensis)
    Reptilia D2HGDH6
    D-2-hydroxyglutarate dehydrogenase
    65(a)
    1 ↔ 1
    3(30587941-30609453)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia d2hgdh1 D-2-hydroxyglutarate dehydrogenase 63.67(n)
    68.41(a)
      100379761  XM_002936608.2  XP_002936654.1 
    zebrafish
    (Danio rerio)
    Actinopterygii d2hgdh1 D-2-hydroxyglutarate dehydrogenase 66.09(n)
    69.25(a)
      565889  NM_001080597.1  NP_001074066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38351 CG3835 58.53(n)
    49.02(a)
      31184  NM_130626.3  NP_569982.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F54D5.121 CELE_F54D5.12 48.95(n)
    46.42(a)
      174764  NM_064064.6  NP_496465.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DLD2(YDL178W)4
    DLD21
    D-lactate dehydrogenase, located in the mitochondrial more4
    DLD21
    54.14(n)1
    54.99(a)1
      4(139522-141114)4
    8513761, 4  NP_010103.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G364001 AT4G36400 53.88(n)
    56.7(a)
      829792  NM_119803.3  NP_568003.2 


    ENSEMBL Gene Tree for D2HGDH (if available)
    TreeFam Gene Tree for D2HGDH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for D2HGDH gene
    1 SIMAP similar gene for D2HGDH using alignment to 11 protein entries:     D2HDH_HUMAN (see all proteins):
    pp13479

    Find genes that share paralogs with D2HGDH           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for D2HGDH (see all 1125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0258914
    D-2-hydroxyglutaric aciduria 1 (D2HGA1)4--see VAR_0258912 D Y mis40--------
    VAR_0258944
    D-2-hydroxyglutaric aciduria 1 (D2HGA1)4--see VAR_0258942 V A mis40--------
    VAR_0258904
    D-2-hydroxyglutaric aciduria 1 (D2HGA1)4--see VAR_0258902 I S mis40--------
    VAR_0258934
    D-2-hydroxyglutaric aciduria 1 (D2HGA1)4--see VAR_0258932 N D mis40--------
    rs2676067591,2
    Cpathogenic1242690786(+) CCACCG/TACCAG 2 D Y mis10--------
    rs353445811,2
    C--242672042(+) TCCCCC/TGGGGA 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1125900471,2
    C,F--242672056(+) GGAGAG/CTCCCT 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1854517061,2
    --242672087(+) GGGTGG/TTGTTT 1 -- us2k10--------
    rs1889275261,2
    --242672105(+) CTTTTC/TGCTAC 1 -- us2k10--------
    rs1918972311,2
    C--242672121(+) GACCAA/C/TGGTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for D2HGDH (242673994 - 242708231 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for D2HGDH (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722021CNV Deletion23290073
    esv2722020CNV Deletion23290073
    esv2722025CNV Deletion23290073
    esv2722022CNV Deletion23290073
    esv2656823CNV Deletion23128226
    esv1008074CNV Deletion20482838
    esv2722024CNV Deletion23290073
    esv2722023CNV Deletion23290073
    esv1249069CNV Insertion17803354
    nsv10230CNV Loss18304495

    Human Gene Mutation Database (HGMD): D2HGDH
    Locus Specific Mutation Databases (LSDB): D2HGDH

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609186   
    OMIM disorders: 600721  
    UniProtKB/Swiss-Prot: D2HDH_HUMAN, Q8N465
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for D2HGDH:    
    About MalaCards
    d-2-hydroxyglutaric aciduria 1    d-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria    egg allergy
    hypotonia

    2 diseases from the University of Copenhagen DISEASES database for D2HGDH:
    D-2-hydroxyglutaric aciduria     Egg allergy

    Find genes that share disorders with D2HGDH           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: D2HGDH (1 document)

    Export disorders for D2HGDH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for D2HGDH gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with D2HGDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2- hydroxyglutaric aciduria. (PubMed id 15609246)1, 2, 3 Struys E.A.... Jakobs C. (Am. J. Hum. Genet. 2005)
    2. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. (PubMed id 15070399)1, 2, 3 Achouri Y....van Schaftingen E. (Biochem. J. 2004)
    3. D-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? (PubMed id 16442322)1, 2 Struys E.A....Jakobs C. (Mol. Genet. Metab. 2006)
    4. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. (PubMed id 16037974)1, 2 Struys E.A.... Jakobs C. (Ann. Neurol. 2005)
    5. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. (PubMed id 16081310)1, 2 Misra V.K.... Innis J.W. (Mol. Genet. Metab. 2005)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations. (PubMed id 20727073)1 Brehmer S....Hartmann C. (Neuropathol. Appl. Neurobiol. 2011)
    10. Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. (PubMed id 21625441)1 Krell D....Bardella C. (PLoS ONE 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 728294 HGNC: 28358 Ensembl:ENSG00000180902 euGenes: HUgn728294 ECgene: D2HGDH
    H-InvDB: D2HGDH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for D2HGDH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=D2HGDH[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for D2HGDH gene:
    Search GeneIP for patents involving D2HGDH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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