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    D2hgdh D-2-hydroxyglutarate dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 98314, updated on 9-Dec-2024

    Summary

    Official Symbol
    D2hgdhprovided by MGI
    Official Full Name
    D-2-hydroxyglutarate dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:2138209
    See related
    Ensembl:ENSMUSG00000073609 AllianceGenome:MGI:2138209
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable (R)-2-hydroxyglutarate dehydrogenase activity and zinc ion binding activity. Predicted to be involved in several processes, including malate metabolic process; response to cobalt ion; and response to manganese ion. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in D-2-hydroxyglutaric aciduria 1. Orthologous to human D2HGDH (D-2-hydroxyglutarate dehydrogenase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 9.9), kidney adult (RPKM 9.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See D2hgdh in Genome Data Viewer
    Location:
    1 D; 1 47.36 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (93752531..93781583)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (93823195..93853857)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:95698432-95698719 Neighboring gene STARR-positive B cell enhancer ABC_E4338 Neighboring gene deoxythymidylate kinase Neighboring gene predicted gene, 22089 Neighboring gene inhibitor of growth family, member 5 Neighboring gene STARR-positive B cell enhancer ABC_E7734 Neighboring gene galactose-3-O-sulfotransferase 2 Neighboring gene STARR-seq mESC enhancer starr_01736 Neighboring gene STARR-seq mESC enhancer starr_01737 Neighboring gene STARR-seq mESC enhancer starr_01738 Neighboring gene D-2-hydroxyglutarate dehydrogenase pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables (R)-2-hydroxyglutarate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables (R)-2-hydroxyglutarate dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables FAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in malate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in malate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    NOT involved_in response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to cobalt ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cobalt ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    NOT involved_in response to magnesium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to manganese ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to manganese ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to zinc ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to zinc ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    D-2-hydroxyglutarate dehydrogenase, mitochondrial
    NP_001297696.1
    NP_001408163.1
    NP_001408164.1
    NP_001408165.1
    NP_001408166.1
    NP_001408167.1
    NP_001408168.1
    NP_001408169.1
    NP_001408170.1
    NP_849213.2
    XP_006530033.2
    XP_006530036.1
    XP_017168525.1
    XP_030099718.1
    XP_036010489.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001310767.2NP_001297696.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC167139
      Consensus CDS
      CCDS78658.1
      UniProtKB/TrEMBL
      E9QN44
      Related
      ENSMUSP00000108502.2, ENSMUST00000112881.8
      Conserved Domains (3) summary
      COG0277
      Location:112554
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
      pfam01565
      Location:137274
      FAD_binding_4; FAD binding domain
      pfam02913
      Location:311551
      FAD-oxidase_C; FAD linked oxidases, C-terminal domain
    2. NM_001421234.1NP_001408163.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC167139
      UniProtKB/Swiss-Prot
      E9QLL1, Q149H0, Q3TDF5, Q8BU06, Q8CIM3
    3. NM_001421235.1NP_001408164.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC167139
    4. NM_001421236.1NP_001408165.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC167139
    5. NM_001421237.1NP_001408166.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC167139
    6. NM_001421238.1NP_001408167.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC167139
    7. NM_001421239.1NP_001408168.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC167139
    8. NM_001421240.1NP_001408169.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC167139
    9. NM_001421241.1NP_001408170.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC167139
    10. NM_178882.5NP_849213.2  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_849213.2

      Status: VALIDATED

      Source sequence(s)
      AC167139
      Consensus CDS
      CCDS15196.1
      UniProtKB/Swiss-Prot
      E9QLL1, Q149H0, Q3TDF5, Q8BU06, Q8CIM3
      Related
      ENSMUSP00000095235.4, ENSMUST00000097633.10
      Conserved Domains (1) summary
      COG0277
      Location:90532
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      93752531..93781583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529970.4XP_006530033.2  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X2

      Conserved Domains (1) summary
      COG0277
      Location:90396
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    2. XM_030243858.2XP_030099718.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X4

      Conserved Domains (1) summary
      COG0277
      Location:112418
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    3. XM_017313036.3XP_017168525.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X3

      Conserved Domains (1) summary
      COG0277
      Location:1429
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    4. XM_006529973.5XP_006530036.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X6

      See identical proteins and their annotated locations for XP_006530036.1

      Conserved Domains (2) summary
      PRK11282
      Location:2477
      glcE; glycolate oxidase FAD binding subunit; Provisional
      pfam02913
      Location:52291
      FAD-oxidase_C; FAD linked oxidases, C-terminal domain
    5. XM_036154596.1XP_036010489.1  D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform X3

      Conserved Domains (1) summary
      COG0277
      Location:1429
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]