LOCUS       NM_145443               3338 bp    mRNA    linear   ROD 14-JAN-2025
DEFINITION  Mus musculus L-2-hydroxyglutarate dehydrogenase (L2hgdh), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_145443
VERSION     NM_145443.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3338)
  AUTHORS   Feng,S., Wang,D., Jin,Y., Huang,S., Liang,T., Sun,W., Du,X.,
            Zhuo,L., Shan,C., Zhang,W., Jing,T., Zhao,S., Hong,R., You,L.,
            Liu,G., Chen,L., Ye,D., Li,X. and Yang,Y.
  TITLE     Blockage of L2HGDH-mediated S-2HG catabolism orchestrates
            macrophage polarization to elicit antitumor immunity
  JOURNAL   Cell Rep 43 (6), 114300 (2024)
   PUBMED   38829739
REFERENCE   2  (bases 1 to 3338)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 3338)
  AUTHORS   Brinkley,G., Nam,H., Shim,E., Kirkman,R., Kundu,A., Karki,S.,
            Heidarian,Y., Tennessen,J.M., Liu,J., Locasale,J.W., Guo,T.,
            Wei,S., Gordetsky,J., Johnson-Pais,T.L., Absher,D., Rakheja,D.,
            Challa,A.K. and Sudarshan,S.
  TITLE     Teleological role of L-2-hydroxyglutarate dehydrogenase in the
            kidney
  JOURNAL   Dis Model Mech 13 (11) (2020)
   PUBMED   32928875
  REMARK    GeneRIF: Teleological role of L-2-hydroxyglutarate dehydrogenase in
            the kidney.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3338)
  AUTHORS   Ma,S., Sun,R., Jiang,B., Gao,J., Deng,W., Liu,P., He,R., Cui,J.,
            Ji,M., Yi,W., Yang,P., Wu,X., Xiong,Y., Qiu,Z., Ye,D. and Guan,K.L.
  TITLE     L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive
            Leukoencephalopathy and Neurodegeneration
  JOURNAL   Mol Cell Biol 37 (8), e00492-16 (2017)
   PUBMED   28137912
  REMARK    GeneRIF: L2hgdh mutation leads to l-2-hydroxyglutarate
            accumulation, leukoencephalopathy, and neurodegeneration in mice.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3338)
  AUTHORS   Rzem,R., Achouri,Y., Marbaix,E., Schakman,O., Wiame,E., Marie,S.,
            Gailly,P., Vincent,M.F., Veiga-da-Cunha,M. and Van Schaftingen,E.
  TITLE     A mouse model of L-2-hydroxyglutaric aciduria, a disorder of
            metabolite repair
  JOURNAL   PLoS One 10 (3), e0119540 (2015)
   PUBMED   25763823
  REMARK    GeneRIF: Data describe a mouse model of L-2-hydroxyglutaric
            aciduria where mouse with l2hgdh gene deficiency accumulates toxic
            levels of L-2-hydroxyglutarate mostly in brain and testis and shows
            significant brain spongiosis and learning deficit.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3338)
  AUTHORS   Taniwaki,T., Haruna,K., Nakamura,H., Sekimoto,T., Oike,Y.,
            Imaizumi,T., Saito,F., Muta,M., Soejima,Y., Utoh,A., Nakagata,N.,
            Araki,M., Yamamura,K. and Araki,K.
  TITLE     Characterization of an exchangeable gene trap using pU-17 carrying
            a stop codon-beta geo cassette
  JOURNAL   Dev Growth Differ 47 (3), 163-172 (2005)
   PUBMED   15840001
REFERENCE   7  (bases 1 to 3338)
  AUTHORS   Rzem,R., Veiga-da-Cunha,M., Noel,G., Goffette,S., Nassogne,M.C.,
            Tabarki,B., Scholler,C., Marquardt,T., Vikkula,M. and Van
            Schaftingen,E.
  TITLE     A gene encoding a putative FAD-dependent L-2-hydroxyglutarate
            dehydrogenase is mutated in L-2-hydroxyglutaric aciduria
  JOURNAL   Proc Natl Acad Sci U S A 101 (48), 16849-16854 (2004)
   PUBMED   15548604
REFERENCE   8  (bases 1 to 3338)
  AUTHORS   Araki,K., Imaizumi,T., Sekimoto,T., Yoshinobu,K., Yoshimuta,J.,
            Akizuki,M., Miura,K., Araki,M. and Yamamura,K.
  TITLE     Exchangeable gene trap using the Cre/mutated lox system
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999)
   PUBMED   10512203
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ087348.1, AK168429.1 and AK152450.1.
            
            On Oct 27, 2009 this sequence version replaced NM_145443.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK168429.1, AK145228.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                CJ087348.1         3-55
            54-1324             AK168429.1         2-1272
            1325-1614           AK152450.1         1302-1591
            1615-3338           AK168429.1         1563-3286
FEATURES             Location/Qualifiers
     source          1..3338
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 28.94 cM"
     gene            1..3338
                     /gene="L2hgdh"
                     /note="L-2-hydroxyglutarate dehydrogenase"
                     /db_xref="GeneID:217666"
                     /db_xref="MGI:MGI:2384968"
     exon            1..221
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1473
                     /gene="L2hgdh"
                     /EC_number="1.1.99.2"
                     /note="L-2-hydroxyglutarate dehydrogenase, mitochondrial;
                     duranin"
                     /codon_start=1
                     /product="L-2-hydroxyglutarate dehydrogenase,
                     mitochondrial precursor"
                     /protein_id="NP_663418.1"
                     /db_xref="CCDS:CCDS25953.1"
                     /db_xref="GeneID:217666"
                     /db_xref="MGI:MGI:2384968"
                     /translation="MWPTLRYVGGVCGLARYCVAGGFLRASGPASGVPGLLCGGGRRS
                     SSTSSFDIVIVGGGIVGLASARTLILKHPGLSIGVVEKEKDLALHQTGHNSGVIHSGI
                     YYKPESLKAKLCVEGAALIYEYCNLKGIPYRQCGKLIVAVEQEEIPRLQALYERGLQN
                     GVEGLRLIQQEDIKKKEPYCRGLMAIDCPYTGIVNYQQVALSFAQDFQEAGGSILRDF
                     EVKGIEIAKENSSRSKDGMNYPIAVKNSKGKEIRCRYVVTCAGLYSDRISELSGCNPD
                     PQIVPFRGDYLVLKPEKGYLVKGNIYPVPDSRFPFLGVHFTPRLDGTIWLGPNAVLAF
                     KREGYRPFDFDARDVMEVILKSGFINLVFQHFSYGVNEMYKACFLSETVKHLQKFIPE
                     ITISDVLRGPAGVRAQALDRDGNLVEDFVFDGGTGEIADRVLHVRNAPSPAATSSLAI
                     SRMIAEEAQQRFKL"
     exon            222..337
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            338..489
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            490..621
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            622..784
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            785..819
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            820..987
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1145
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1277
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..3338
                     /gene="L2hgdh"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1591..1596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="L2hgdh"
                     /note="hexamer: AATAAA"
     polyA_site      1615
                     /gene="L2hgdh"
                     /note="major polyA site"
ORIGIN      
        1 ggagagcggc gcgcttcacc cttagagtcc gttcaggttg cgggtgctgg ggtggaggga
       61 ggggaggtgg cgcaggccat gtggccgacc ctgcgctacg taggcggtgt ctgcggactg
      121 gcccggtact gcgtggctgg gggcttcctc cgcgcaagtg gaccggcgtc cggggtgccc
      181 gggctactgt gcgggggtgg ccgcagaagc tccagcacca gctcttttga tatagtcatc
      241 gttggaggtg gaattgtggg ccttgcctct gccagaacgc tcatcctgaa acatcctgga
      301 ctttcgattg gtgtggtgga aaaggagaaa gatttagctc ttcaccagac tggacacaac
      361 agcggtgtca tacacagtgg tatttactat aaaccagaat ctctgaaggc taaattgtgt
      421 gtagaaggcg cagccctcat ctatgagtac tgcaacctca agggaattcc ctacaggcaa
      481 tgtggcaagc taatagtagc tgttgaacaa gaagaaattc ccagacttca ggccttgtat
      541 gagagaggcc tgcagaatgg agtcgaaggc ctgaggctga tccagcagga ggatataaaa
      601 aagaaggagc cgtattgcag gggtctaatg gctattgatt gtccatacac cggcattgtg
      661 aactaccaac aggtagcttt gtcatttgcc caggatttcc aagaagcagg tggctctatc
      721 ttgagagatt ttgaggtaaa aggtattgaa atagctaaag aaaactcttc aagaagtaaa
      781 gatggcatga actatccaat cgctgtcaag aacagcaagg gaaaggagat tcggtgtcga
      841 tatgttgtca catgtgctgg tctttactct gaccgtattt cagagttgag tggctgcaat
      901 cctgaccctc aaattgtccc attccgggga gattacctgg tcttaaagcc agaaaagggc
      961 taccttgtaa aaggaaatat ttatccggtc ccagacagcc ggtttccttt ccttggagtt
     1021 cactttacgc ccaggttgga tggcactatt tggctagggc ctaatgcagt gcttgccttt
     1081 aaacgggaag gttacagacc ctttgacttc gatgccagag atgttatgga agtaattctc
     1141 aaaagcggct tcattaacct ggtgttccag catttctctt atggagttaa tgaaatgtat
     1201 aaagcctgtt ttctcagtga aacagtgaag catcttcaaa agttcattcc tgaaatcacc
     1261 atcagcgatg tccttcgagg tcctgctgga gtacgggccc aggccctgga cagagatgga
     1321 aatctggtag aggattttgt gtttgacgga gggactggcg agattgcaga ccgcgtcctt
     1381 catgtgagaa atgcgccttc gcctgctgcc acttcctccc tggcaatttc tagaatgata
     1441 gcagaggaag cacagcaaag gtttaagtta tgagtggcag agggaactgt gcttgcatta
     1501 cagtccccac gtcagcaaca agggtctacc ggctgcattt taaaattaga atttaagaaa
     1561 acaatttgaa aaccatgcct ttaaggctaa aataaacatt gacttattaa caggatatag
     1621 tagatataat aattttttta aaattcaggt ccatattctt gtgaacaaag aaacgaagtg
     1681 tatcggcacc tgtcctgaaa cttcaggttt attaggcttt ccccaagcca cctcaatctg
     1741 ggaagggctc ttacagagtg cttgggaaga caacataaaa gatggactaa ataagtgttt
     1801 ggatttataa tatttttcct ttttctaaat aactgcttat ttagaaaatg aaaatgcttg
     1861 atttcaagaa aataaatgaa atttcacatt tctaagtagc atagaagaaa gtcagtcttt
     1921 tactgcagcc ccgcagtgtg gcaccatcac tccacgtgac tagcagtgcg cctgtgtgct
     1981 tgctgcctac actacagttt tctaagctga gaaatgaaag tccctaaaag gactgatttt
     2041 tataagtgca gtttaaaatc ctgaccctgg gtgcgtcact gtgtaatttt atgtgtctca
     2101 cacctcagtc ccttggtcac actaaggtac ccaagatgtt ggccaggatt actagagatt
     2161 cctatctatt tgggttttca gaattcctat aagctttgtg aggacatttc tccatttttg
     2221 gttaatatct aacttggagg cattcacttt tgtaaaccgc gaaagtgcct tatatccttc
     2281 ctatttactt cattaacgtg gtaagtcagt gccaagtgcc atactgtgtg tgcacgtgcg
     2341 catgtgtggg tagtaccaca ttgttactgt gtatactata tgtgtgtgtg catgtgtgta
     2401 tgtgtgtgtg tgaagtacca tattatatta ctgtgtatgt gtatgtatgt gtgtgcgtgc
     2461 gtgtgtgtgc tcgcgtgtgt gtgctcgcgt gtgtgtctta gctagtgaag tgtgtcttac
     2521 aactcagaaa gttagaaaat agaaatataa gtggagaact ggcagcctgg ccatggaaac
     2581 aggcagcact tcgggagacc ctttgtctgt cctcccgagc gttctctcag gttgatcttg
     2641 gttttcctcg tcaacactgt gatggatgta tgagaggggg tgcatgttga tagggaaccc
     2701 ttttcctgcc acttgtttct cttcacttca gcccttactg gtacatttat taagctatct
     2761 aatccattaa tttaaaagga tacatattgt gggcttcagt tggagaggca gcatatccca
     2821 ggtaaataga tgaggcagtt actcaaccct tgggctgggc atattgaaac actcagaaat
     2881 catttacaga aaaaccaagc cctcgtggtc ctccatagca gctgattcca gaagaagcac
     2941 tgcagagcac gtctctgttc taagacgtca gtgacacaag cgtcatagta aggttgtgtt
     3001 actttatgaa taagatgaga gtcttctcct tttagctgtg gtgagagaag tgtgcatgtt
     3061 ctgtttcatc agctgtgaga cctgtgcaca tacactaagc tgtgaaaaaa taaagttaca
     3121 aaataactat catgatagaa gcaatcctta ctccatttgg gtctgtattg tatatcccag
     3181 aataatagtg aaaatttgtt gaaatatgtc agttaatctg tttgtaaaat atttgatatt
     3241 tatgtcaata ggaatttttt gttaaatact gatatataag aatttttgtg tctttctgag
     3301 aaaataaaaa tgtatattag tattaaaata ttttaatg
//
