LOCUS       NM_152783               2566 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_152783 XM_001130341 XM_001130367
VERSION     NM_152783.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2566)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2566)
  AUTHORS   Hayashi,C., Takagi,K., Sato,A., Yamaguchi,M., Minemura,H., Miki,Y.,
            Harada-Shoji,N., Miyashita,M., Sasano,H. and Suzuki,T.
  TITLE     D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent
            prognostic marker associated with proliferation
  JOURNAL   Histol Histopathol 36 (10), 1053-1062 (2021)
   PUBMED   34296423
  REMARK    GeneRIF: D-2-hydroxyglutarate dehydrogenase in breast carcinoma as
            a potent prognostic marker associated with proliferation.
REFERENCE   3  (bases 1 to 2566)
  AUTHORS   Yang,J., Zhu,H., Zhang,T. and Ding,J.
  TITLE     Structure, substrate specificity, and catalytic mechanism of human
            D-2-HGDH and insights into pathogenicity of disease-associated
            mutations
  JOURNAL   Cell Discov 7 (1), 3 (2021)
   PUBMED   33431826
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2566)
  AUTHORS   Eckel-Passow,J.E., Drucker,K.L., Kollmeyer,T.M., Kosel,M.L.,
            Decker,P.A., Molinaro,A.M., Rice,T., Praska,C.E., Clark,L.,
            Caron,A., Abyzov,A., Batzler,A., Song,J.S., Pekmezci,M.,
            Hansen,H.M., McCoy,L.S., Bracci,P.M., Wiemels,J., Wiencke,J.K.,
            Francis,S., Burns,T.C., Giannini,C., Lachance,D.H., Wrensch,M. and
            Jenkins,R.B.
  TITLE     Adult diffuse glioma GWAS by molecular subtype identifies variants
            in D2HGDH and FAM20C
  JOURNAL   Neuro Oncol 22 (11), 1602-1613 (2020)
   PUBMED   32386320
  REMARK    GeneRIF: Adult diffuse glioma GWAS by molecular subtype identifies
            variants in D2HGDH and FAM20C.
REFERENCE   5  (bases 1 to 2566)
  AUTHORS   Qiu,Z., Lin,A.P., Jiang,S., Elkashef,S.M., Myers,J., Srikantan,S.,
            Sasi,B., Cao,J.Z., Godley,L.A., Rakheja,D., Lyu,Y., Zheng,S.,
            Madesh,M., Shiio,Y., Dahia,P.L.M. and Aguiar,R.C.T.
  TITLE     MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and
            Epitranscriptome
  JOURNAL   Cell Chem Biol 27 (5), 538-550 (2020)
   PUBMED   32101699
  REMARK    GeneRIF: MYC Regulation of D2HGDH and L2HGDH Influences the
            Epigenome and Epitranscriptome.
REFERENCE   6  (bases 1 to 2566)
  AUTHORS   Struys,E.A., Korman,S.H., Salomons,G.S., Darmin,P.S., Achouri,Y.,
            van Schaftingen,E., Verhoeven,N.M. and Jakobs,C.
  TITLE     Mutations in phenotypically mild D-2-hydroxyglutaric aciduria
  JOURNAL   Ann Neurol 58 (4), 626-630 (2005)
   PUBMED   16037974
  REMARK    GeneRIF: 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).
REFERENCE   7  (bases 1 to 2566)
  AUTHORS   Struys,E.A., Salomons,G.S., Achouri,Y., Van Schaftingen,E.,
            Grosso,S., Craigen,W.J., Verhoeven,N.M. and Jakobs,C.
  TITLE     Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause
            D-2-hydroxyglutaric aciduria
  JOURNAL   Am J Hum Genet 76 (2), 358-360 (2005)
   PUBMED   15609246
REFERENCE   8  (bases 1 to 2566)
  AUTHORS   Achouri,Y., Noel,G., Vertommen,D., Rider,M.H., Veiga-Da-Cunha,M.
            and Van Schaftingen,E.
  TITLE     Identification of a dehydrogenase acting on D-2-hydroxyglutarate
  JOURNAL   Biochem J 381 (Pt 1), 35-42 (2004)
   PUBMED   15070399
REFERENCE   9  (bases 1 to 2566)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 2566)
  AUTHORS   Gibson,K.M., Craigen,W., Herman,G.E. and Jakobs,C.
  TITLE     D-2-hydroxyglutaric aciduria in a newborn with neurological
            abnormalities: a new neurometabolic disorder?
  JOURNAL   J Inherit Metab Dis 16 (3), 497-500 (1993)
   PUBMED   7609436
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304764.1, AK304773.1, BC036604.2, BC071598.1 and BC031817.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_152783.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.621863.1,
                                           SRR3476690.1161830.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000321264.9/
                                                  ENSP00000315351.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                AK304764.1         52-110
            60-322              AK304773.1         60-322
            323-2172            BC036604.2         313-2162
            2173-2524           BC071598.1         4156-4507
            2525-2566           BC031817.1         1566-1607
FEATURES             Location/Qualifiers
     source          1..2566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..2566
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /note="D-2-hydroxyglutarate dehydrogenase"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
     exon            1..66
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            67..450
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1724
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /EC_number="1.1.99.39"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial"
                     /codon_start=1
                     /product="D-2-hydroxyglutarate dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_689996.4"
                     /db_xref="CCDS:CCDS33426.1"
                     /db_xref="GeneID:728294"
                     /db_xref="HGNC:HGNC:28358"
                     /db_xref="MIM:609186"
                     /translation="MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPE
                     VPLTRERYPVRRLPFSTVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKV
                     LLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFH
                     SVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGS
                     LHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKP
                     RAVNVAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQES
                     PFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEA
                     LSRDGYVYKYDLSLPVERLYDIVTDLRARLGPHAKHVVGYGHLGDGNLHLNVTAEAFS
                     PSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPK
                     GILNPYKTLPSQA"
     exon            451..508
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            509..648
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            649..842
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            843..1011
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1155
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1298
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1464
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..2566
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2543..2548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /note="hexamer: AGTAAA"
     polyA_site      2566
                     /gene="D2HGDH"
                     /gene_synonym="D2HGD"
                     /note="major polyA site"
ORIGIN      
        1 actccggctc ggcggctctg ggcctgcggc gggcgctgcg ggttggagct cgggacgtga
       61 tcgtgggcgc gcagccagcg gctccctgcc cttcccctcc gggccctgag taccggcccc
      121 ccaccaagga ggagcccgag gtctccgtcc cggcggcgat gctgccccgt cggcctctgg
      181 cgtggcccgc gtggctgttg cggggtgctc cgggagccgc gggttcttgg ggtcggccgg
      241 ttggccccct ggcccgcaga ggctgctgct ccgccccggg gacccccgag gtgccgctga
      301 cccgggagcg ctaccccgtg cggcgcttgc cgttctccac ggtgtctaag caggacctgg
      361 ccgcctttga gcgcatcgtg cccggcgggg tcgtcacgga cccggaagcg ctgcaggctc
      421 ccaacgtgga ctggttgcgg acgctgcgag gctgtagcaa ggtgctgctg aggccacgga
      481 cgtcggagga ggtgtcccac atcctcaggc actgccacga gaggaacctg gccgtgaacc
      541 cacagggggg caacacaggc atggtgggtg gcagcgtccc cgtctttgac gagatcatcc
      601 tctccactgc ccgcatgaac cgggtcctca gcttccacag cgtgtctgga attctggttt
      661 gccaggcggg ctgcgtcctg gaggagctga gccggtatgt ggaggaacgg gacttcatca
      721 tgccgctgga cttaggagcc aagggcagct gccacatcgg gggaaacgtg gcaaccaacg
      781 ctggaggcct gcggtttctt cgatatggct cactgcatgg gactgtcctg ggcctggaag
      841 tggtgctggc cgacggcact gtcctggact gcctgacctc cctgaggaag gacaacacgg
      901 gctatgacct gaagcagctg ttcatcgggt cggagggcac tttggggatc atcaccacgg
      961 tgtccatctt gtgtccaccc aagcccaggg ctgtgaacgt ggctttcctc ggctgcccag
     1021 gctttgctga ggttctgcag accttcagca cctgcaaggg gatgctgggt gagatcctgt
     1081 ctgcattcga gttcatggat gctgtgtgca tgcagctggt cgggcgccat ctccacctgg
     1141 ccagcccggt gcaagagagt ccgttttacg tcctcatcga gacttcaggc tccaacgcag
     1201 gccatgacgc tgagaagctg ggccacttcc tggagcacgc gctgggctcc ggcctggtga
     1261 ccgatgggac catggccacc gaccagagga aagtcaagat gctgtgggcc ctgagggaaa
     1321 ggatcacaga ggcgctgagc cgggatggct acgtgtacaa gtacgacctc tccctccctg
     1381 tggagcggct ctacgacatc gtgactgacc tgcgcgcccg cctcggcccg cacgccaagc
     1441 acgtggtggg ctatggccac cttggagatg gtaacctgca cctcaatgtg acggcggagg
     1501 ccttcagccc ctcgctcctg gctgccctgg agccccacgt gtacgagtgg acggccgggc
     1561 agcagggcag cgtcagcgcg gagcacggag tgggcttcag gaagagggac gtcctgggct
     1621 acagcaagcc accgggggcc ctgcagctca tgcagcagct caaggccctg ctggacccca
     1681 agggcatcct caacccctac aagacgctgc ccagccaggc ctgacggcca ctcctgctgc
     1741 tgccaaggcc cactgggggt cggcgggtgg ctctcgggcg ggggtgttgc ggtggctctg
     1801 agggatgagc cggcagtggg caggggacca ggcacctggt tgaagggact gggagcccgc
     1861 actggggaac tgccggacgc aggccctcgg gcaggagcat ctggcagagt ggggggcgtg
     1921 gcaggcaccc tcctttgcag ggcgaggtgg ggcctctgca gccatcctgg acaggccggg
     1981 gtggcggcag ctttgcccac gtggaagcgg ggtgggtctc acttgcgtgg tggcccctgg
     2041 ccccatcttg cctgctgcgg cctggggagc aggcgctggg tggtggttct gcctgcttgc
     2101 tgctcgttcc ccgggcatgc gtgggcagcg gggggcatgc gtgggcagca gggggcgtgg
     2161 gcagcggggg cacgggcagg accacgtggg ccgtgatcgt gggttgccga gaggacctga
     2221 gcgctgcggc tctgctgaat ggagccgggt ccctcaggcc gtggacgccc tcgggagggg
     2281 ggtgactgtg gcttgtgtct ggacaggaat gtgtcatttc ccacatcttc tagagggctg
     2341 ccagctggga agacagttat cagggcaagc tgtgctctga gtttcgggtt ctgctcctac
     2401 aaagaacgtg cggtgctgcg ggcgagggcc ccggcacgga caagggccac tgcagagtgt
     2461 gtttctgctc gtcagctgcc ctgggcagcg gatgggctgg gcgatgcagc tggatgcaca
     2521 tctcattctg tcatgaatgt ccagtaaaaa tctgaattgg ttgcaa
//
