LOCUS       NM_013393               1704 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial rRNA methyltransferase 2 (MRM2), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_013393
VERSION     NM_013393.3
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 1704)
  AUTHORS   Shafique,A., Arif,B., Chu,M.L., Moran,E., Hussain,T., Zamora,F.M.,
            Wohler,E., Sobreira,N., Klein,C., Lohmann,K. and Naz,S.
  TITLE     MRM2 variants in families with complex dystonic syndromes: evidence
            for phenotypic heterogeneity
  JOURNAL   J Med Genet 60 (4), 352-358 (2023)
   PUBMED   36002240
  REMARK    GeneRIF: MRM2 variants in families with complex dystonic syndromes:
            evidence for phenotypic heterogeneity.
REFERENCE   2  (bases 1 to 1704)
  AUTHORS   Rebelo-Guiomar,P., Pellegrino,S., Dent,K.C., Sas-Chen,A.,
            Miller-Fleming,L., Garone,C., Van Haute,L., Rogan,J.F., Dinan,A.,
            Firth,A.E., Andrews,B., Whitworth,A.J., Schwartz,S., Warren,A.J.
            and Minczuk,M.
  TITLE     A late-stage assembly checkpoint of the human mitochondrial
            ribosome large subunit
  JOURNAL   Nat Commun 13 (1), 929 (2022)
   PUBMED   35177605
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1704)
  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   4  (bases 1 to 1704)
  AUTHORS   Garone,C., D'Souza,A.R., Dallabona,C., Lodi,T., Rebelo-Guiomar,P.,
            Rorbach,J., Donati,M.A., Procopio,E., Montomoli,M., Guerrini,R.,
            Zeviani,M., Calvo,S.E., Mootha,V.K., DiMauro,S., Ferrero,I. and
            Minczuk,M.
  TITLE     Defective mitochondrial rRNA methyltransferase MRM2 causes
            MELAS-like clinical syndrome
  JOURNAL   Hum Mol Genet 26 (21), 4257-4266 (2017)
   PUBMED   28973171
  REMARK    GeneRIF: Targeted exome sequencing of genes encoding the
            mitochondrial proteome identified a damaging mutation, c.567 G > A,
            affecting a highly conserved amino acid residue (p.Gly189Arg) of
            the MRM2 protein. Our findings establish that defective MRM2 causes
            a MELAS-like phenotype, and suggests the genetic screening of the
            MRM2 gene in patients with a m.3243 A > G negative MELAS-like
            presentation.
REFERENCE   5  (bases 1 to 1704)
  AUTHORS   Liu,B., Li,J., Zheng,M., Ge,J., Li,J. and Yu,P.
  TITLE     MiR-542-3p exerts tumor suppressive functions in non-small cell
            lung cancer cells by upregulating FTSJ2
  JOURNAL   Life Sci 188, 87-95 (2017)
   PUBMED   28866101
  REMARK    GeneRIF: miR-542-3p functions as a suppressor gene by targeting and
            upregulating FTSJ2, thus inhibiting the malignancy of non-small
            cell lung cancer cells
REFERENCE   6  (bases 1 to 1704)
  CONSRTM   Cross-Disorder Group of the Psychiatric Genomics Consortium
  TITLE     Identification of risk loci with shared effects on five major
            psychiatric disorders: a genome-wide analysis
  JOURNAL   Lancet 381 (9875), 1371-1379 (2013)
   PUBMED   23453885
  REMARK    Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE   7  (bases 1 to 1704)
  AUTHORS   Bergen,S.E., O'Dushlaine,C.T., Ripke,S., Lee,P.H., Ruderfer,D.M.,
            Akterin,S., Moran,J.L., Chambert,K.D., Handsaker,R.E., Backlund,L.,
            Osby,U., McCarroll,S., Landen,M., Scolnick,E.M., Magnusson,P.K.,
            Lichtenstein,P., Hultman,C.M., Purcell,S.M., Sklar,P. and
            Sullivan,P.F.
  TITLE     Genome-wide association study in a Swedish population yields
            support for greater CNV and MHC involvement in schizophrenia
            compared with bipolar disorder
  JOURNAL   Mol Psychiatry 17 (9), 880-886 (2012)
   PUBMED   22688191
REFERENCE   8  (bases 1 to 1704)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1704)
  AUTHORS   Ching,Y.P., Zhou,H.J., Yuan,J.G., Qiang,B.Q., Kung Hf,H.F. and
            Jin,D.Y.
  TITLE     Identification and characterization of FTSJ2, a novel human
            nucleolar protein homologous to bacterial ribosomal RNA
            methyltransferase
  JOURNAL   Genomics 79 (1), 2-6 (2002)
   PUBMED   11827451
  REMARK    GeneRIF: FTSJ2 is a nucleolar RNA methyltransferase involved in
            eukaryotic RNA processing and modification.
REFERENCE   10 (bases 1 to 1704)
  AUTHORS   Jin,D.Y., Kozak,C.A., Pangilinan,F., Spencer,F., Green,E.D. and
            Jeang,K.T.
  TITLE     Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and
            mouse chromosome 5
  JOURNAL   Genomics 55 (3), 363-364 (1999)
   PUBMED   10049595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004971.3, AF093415.1 and
            AC005282.4.
            
            On Aug 31, 2019 this sequence version replaced NM_013393.2.
            
            Summary: The protein encoded by this gene is a member of the
            S-adenosylmethionine-binding protein family. It is a nucleolar
            protein and it may be involved in the processing and modification
            of rRNA. This gene has been suggested to be involved in cell cycle
            control and DNA repair. [provided by RefSeq, Jul 2008].
            
            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 :: SRR18074967.82522.1, EU794658.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000242257.14/
                                                  ENSP00000242257.8
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC004971.3         122392-122398
            8-1608              AF093415.1         1-1601
            1609-1704           AC005282.4         7254-7349
FEATURES             Location/Qualifiers
     source          1..1704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..1704
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /note="mitochondrial rRNA methyltransferase 2"
                     /db_xref="GeneID:29960"
                     /db_xref="HGNC:HGNC:16352"
                     /db_xref="MIM:606906"
     exon            1..44
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..777
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /EC_number="2.1.1.-"
                     /note="cell division protein FtsJ; rRNA
                     (uridine-2'-O-)-methyltransferase; putative ribosomal RNA
                     methyltransferase 2; protein ftsJ homolog 2; FtsJ homolog
                     2; MRM2 RNA methyltransferase homolog; epididymis luminal
                     protein 97; 16S rRNA [Um1369] 2'-O-methyltransferase; 16S
                     rRNA (uridine(1369)-2'-O)-methyltransferase; FtsJ RNA
                     methyltransferase homolog 2"
                     /codon_start=1
                     /product="rRNA methyltransferase 2, mitochondrial"
                     /protein_id="NP_037525.1"
                     /db_xref="CCDS:CCDS5328.1"
                     /db_xref="GeneID:29960"
                     /db_xref="HGNC:HGNC:16352"
                     /db_xref="MIM:606906"
                     /translation="MAGYLKLVCVSFQRQGFHTVGSRCKNRTGAEHLWLTRHLRDPFV
                     KAAKVESYRCRSAFKLLEVNERHQILRPGLRVLDCGAAPGAWSQVAVQKVNAAGTDPS
                     SPVGFVLGVDLLHIFPLEGATFLCPADVTDPRTSQRILEVLPGRRADVILSDMAPNAT
                     GFRDLDHDRLISLCLTLLSVTPDILQPGGTFLCKTWAGSQSRRLQRRLTEEFQNVRII
                     KPEASRKESSEVYFLATQYHGRKGTVKQ"
     exon            45..334
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            335..1704
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1586..1591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /note="hexamer: CATAAA"
     polyA_site      1608
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /note="major polyA site"
     regulatory      1679..1684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
                     /note="hexamer: AATAGA"
     polyA_site      1704
                     /gene="MRM2"
                     /gene_synonym="FJH1; FTSJ2; HEL97; MTDPS17; RRMJ2"
ORIGIN      
        1 acttccggcg gcgcgctgca ggcgcgggga acaccaatgg cggggtactt gaagctggtg
       61 tgtgtttcct ttcagcgtca agggttccac actgttggga gtcgctgcaa gaatcggaca
      121 ggcgctgagc acctgtggct gacccgacat ctcagggacc catttgtgaa ggctgcgaag
      181 gtggagagtt accggtgtcg aagcgccttc aagctcctgg aggtgaacga gaggcaccag
      241 attctgcggc ccggccttcg ggtgttagac tgtggggcag ctcctggggc ctggagtcag
      301 gtggcggtgc agaaggtcaa cgccgcaggc acagatccca gctctcctgt tggcttcgtg
      361 cttggggtag atcttcttca catattcccc ctggaaggag caacttttct gtgccctgct
      421 gacgtgactg acccgagaac ctcacagaga atcctcgagg tgcttcctgg caggagagca
      481 gatgtgattc tgagcgacat ggcgcccaat gccacagggt tccgggacct cgatcatgac
      541 aggctcatca gcctgtgcct gacccttctc agcgtgaccc cagacatcct gcaacctggg
      601 gggacattcc tttgtaaaac ctgggctgga agtcaaagcc gtcggttaca gaggagactg
      661 acagaggaat tccagaatgt aaggatcatc aaacctgaag ccagcaggaa agagtcatca
      721 gaagtgtact tcttggccac acagtaccac ggaaggaagg gcactgtgaa gcagtgagga
      781 tttcttgtgc cattttcata atggtcatta gctcctttta agctagaaac gtagcctgag
      841 ctcctgaaga gttcctggga gatttgagct gattttggag atggagcagg acaagtgggg
      901 agtctctctc tctctttctc tctctctctt tttaaccaaa aagagatgac aaaactaagt
      961 tcaggggcca tggaaaatga aaaagtccgc tatattgtga tttgggaaga gaaagttatc
     1021 aagagaaaga ggtgaggatg gaaggatgga gaaaaacaga ctgtgggaag gatcagaagg
     1081 aatccgccga ggcagggatg ggtgtgccca tgtgtgcctt gacgggactt catcttatag
     1141 actgttaaac tgtcacacac aaacaggctt tccacccctg ctctgagagc accacgcaca
     1201 gatttccagt tcttagtgtg gctgtttaaa gtagaaaatc tgggggctgg gtgaggccac
     1261 tcatgcctgt aaacccaggg ctttagaagg ctgaggctgg gggattgctt gaagtcagga
     1321 gttcaagacc aacctgggca acatagcaac accccccatg tctacaaaaa tgaaaaacca
     1381 aaaagcaaac caaaagaaaa atctgaaatt tccatctggg gattaacttc tgtctttctg
     1441 gtgaacaata tagcaattca cgcattcttc aagcagcaaa agttcccgga acaattaggg
     1501 aagacgtatg gtctgaattt atccaggcag tgggtctgct ttggtttttg ctggaaattt
     1561 atatcagtgt ctgggctccc aagaacataa atgtaattgc caaagcaagc agtgatgtgg
     1621 tgtgtttatt ttcttttact catctaggaa cttgacgcag ctttatattt aataaaataa
     1681 tagagattgc attattttaa ggta
//
