LOCUS       NM_006554               1341 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens metaxin 2 (MTX2), transcript variant 1, mRNA.
ACCESSION   NM_006554
VERSION     NM_006554.5
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 1341)
  AUTHORS   Li,T., Bao,Y., Xia,Y., Meng,H., Zhou,C., Huang,L., Wang,X.,
            Lai,E.Y., Jiang,P. and Mao,J.
  TITLE     Loss of MTX2 causes mitochondrial dysfunction, podocyte injury,
            nephrotic proteinuria and glomerulopathy in mice and patients
  JOURNAL   Int J Biol Sci 20 (3), 937-952 (2024)
   PUBMED   38250156
  REMARK    GeneRIF: Loss of MTX2 causes mitochondrial dysfunction, podocyte
            injury, nephrotic proteinuria and glomerulopathy in mice and
            patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1341)
  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   3  (bases 1 to 1341)
  AUTHORS   Elouej,S., Harhouri,K., Le Mao,M., Baujat,G., Nampoothiri,S.,
            Kayserili,H., Menabawy,N.A., Selim,L., Paneque,A.L., Kubisch,C.,
            Lessel,D., Rubinsztajn,R., Charar,C., Bartoli,C., Airault,C.,
            Deleuze,J.F., Rotig,A., Bauer,P., Pereira,C., Loh,A.,
            Escande-Beillard,N., Muchir,A., Martino,L., Gruenbaum,Y., Lee,S.H.,
            Manivet,P., Lenaers,G., Reversade,B., Levy,N. and De
            Sandre-Giovannoli,A.
  TITLE     Loss of MTX2 causes mandibuloacral dysplasia and links
            mitochondrial dysfunction to altered nuclear morphology
  JOURNAL   Nat Commun 11 (1), 4589 (2020)
   PUBMED   32917887
  REMARK    GeneRIF: Loss of MTX2 causes mandibuloacral dysplasia and links
            mitochondrial dysfunction to altered nuclear morphology.
            Erratum:[Nat Commun. 2020 Oct 19;11(1):5349. doi:
            10.1038/s41467-020-19290-y.. PMID: 33077719]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1341)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1341)
  AUTHORS   Anderson,A.J., Jackson,T.D., Stroud,D.A. and Stojanovski,D.
  TITLE     Mitochondria-hubs for regulating cellular biochemistry: emerging
            concepts and networks
  JOURNAL   Open Biol 9 (8), 190126 (2019)
   PUBMED   31387448
REFERENCE   6  (bases 1 to 1341)
  AUTHORS   Guarani,V., McNeill,E.M., Paulo,J.A., Huttlin,E.L., Frohlich,F.,
            Gygi,S.P., Van Vactor,D. and Harper,J.W.
  TITLE     QIL1 is a novel mitochondrial protein required for MICOS complex
            stability and cristae morphology
  JOURNAL   Elife 4, e06265 (2015)
   PUBMED   25997101
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1341)
  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   8  (bases 1 to 1341)
  AUTHORS   Xie,J., Marusich,M.F., Souda,P., Whitelegge,J. and Capaldi,R.A.
  TITLE     The mitochondrial inner membrane protein mitofilin exists as a
            complex with SAM50, metaxins 1 and 2, coiled-coil-helix
            coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11
  JOURNAL   FEBS Lett 581 (18), 3545-3549 (2007)
   PUBMED   17624330
  REMARK    GeneRIF: mitofilin helps regulate mitochondrial morphology and at
            least four of the associated proteins (metaxins 1 and 2, SAM50 and
            CHCHD3) have been implicated in protein import
REFERENCE   9  (bases 1 to 1341)
  AUTHORS   Kozjak-Pavlovic,V., Ross,K., Benlasfer,N., Kimmig,S., Karlas,A. and
            Rudel,T.
  TITLE     Conserved roles of Sam50 and metaxins in VDAC biogenesis
  JOURNAL   EMBO Rep 8 (6), 576-582 (2007)
   PUBMED   17510655
  REMARK    GeneRIF: The pathway of Voltage-dependent anion-selective channel
            biogenesis in human mitochondria involves the TOM complex, Sam50
            and metaxins, and that it is evolutionarily conserved.
REFERENCE   10 (bases 1 to 1341)
  AUTHORS   Armstrong,L.C., Saenz,A.J. and Bornstein,P.
  TITLE     Metaxin 1 interacts with metaxin 2, a novel related protein
            associated with the mammalian mitochondrial outer membrane
  JOURNAL   J Cell Biochem 74 (1), 11-22 (1999)
   PUBMED   10381257
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC067831.1 and AI991560.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006554.4.
            
            Summary: The protein encoded by this gene is highly similar to the
            metaxin 2 protein from mouse, which has been shown to interact with
            the mitochondrial membrane protein metaxin 1. Because of this
            similarity, it is thought that the encoded protein is peripherally
            associated with the cytosolic face of the outer mitochondrial
            membrane, and that it is involved in the import of proteins into
            the mitochondrion. Alternative splicing results in multiple
            transcript variants. A related pseudogene has been identified on
            chromosome 7. [provided by RefSeq, Jun 2009].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1660809.364517.1,
                                           SRR5189652.151700.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000249442.11/
                                                  ENSP00000249442.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1247              BC067831.1         27-1273
            1248-1341           AI991560.1         12-105              c
FEATURES             Location/Qualifiers
     source          1..1341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..1341
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /note="metaxin 2"
                     /db_xref="GeneID:10651"
                     /db_xref="HGNC:HGNC:7506"
                     /db_xref="MIM:608555"
     exon            1..228
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..980
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial outer membrane import complex protein 2"
                     /codon_start=1
                     /product="metaxin-2 isoform 1"
                     /protein_id="NP_006545.1"
                     /db_xref="CCDS:CCDS2272.1"
                     /db_xref="GeneID:10651"
                     /db_xref="HGNC:HGNC:7506"
                     /db_xref="MIM:608555"
                     /translation="MSLVAEAFVSQIAAAEPWPENATLYQQLKGEQILLSDNAASLAV
                     QAFLQMCNLPIKVVCRANAEYMSPSGKVPFIHVGNQVVSELGPIVQFVKAKGHSLSDG
                     LEEVQKAEMKAYMELVNNMLLTAELYLQWCDEATVGEITHARYGSPYPWPLNHILAYQ
                     KQWEVKRKMKAIGWGKKTLDQVLEDVDQCCQALSQRLGTQPYFFNKQPTELDALVFGH
                     LYTILTTQLTNDELSEKVKNYSNLLAFCRRIEQHYFEDRGKGRLS"
     exon            229..276
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            277..323
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            324..396
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            397..473
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            474..566
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            567..605
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            606..731
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            732..808
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     exon            809..1341
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1231..1236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /note="hexamer: AATAAA"
     polyA_site      1251
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /note="major polyA site"
     regulatory      1316..1321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
                     /note="hexamer: AATAAA"
     polyA_site      1341
                     /gene="MTX2"
                     /gene_synonym="MDPS; metaxin-2"
ORIGIN      
        1 gtccctagcc aggcctggcg gtaaccttgg gggcctcact gcagccgccg ctgctgttgg
       61 agtgggcttt gcgagtctga acgttggcgg ggctaggctc gttaactgcc gagagcctcc
      121 gggtttgcgg tggaggacgc tgaggcccgt ggggggcagg cacccgggcg ccgggcctcc
      181 cagccgacat gtctctagtg gcggaagcct tcgtctccca gattgcagct gcagaacctt
      241 ggcctgaaaa tgctacatta tatcagcaat tgaaagggga gcaaatttta ctttctgaca
      301 atgcagcttc tcttgcagtg caggcctttt tgcaaatgtg taacttgcct atcaaagtag
      361 tttgtagggc aaatgcagaa tatatgtctc catctggtaa agtacctttt attcatgtgg
      421 gaaatcaagt agtatcagaa cttggtccaa tagtccaatt tgttaaagcc aagggccatt
      481 ctcttagtga tgggctggag gaagtccaaa aagcagaaat gaaagcttac atggaattag
      541 tcaacaatat gctgttgact gcagagctgt atcttcagtg gtgtgatgaa gctacagtag
      601 gggagatcac tcatgctagg tatggatctc cttacccttg gcctctgaat catattttgg
      661 cctatcaaaa acagtgggaa gtcaaacgta agatgaaagc tattggatgg ggaaagaaga
      721 ctctggacca ggtcttagag gatgtagacc agtgctgtca agctctctct caaagactgg
      781 gaacacaacc gtatttcttc aataagcagc ctactgaact tgacgcactg gtatttggcc
      841 atctatacac cattcttacc acacaattga caaatgatga actttctgag aaggtgaaaa
      901 actatagcaa cctccttgct ttctgtagga gaattgaaca gcactatttt gaagatcgtg
      961 gtaaaggcag gctgtcatag agttatgtgt tagtctcagg agtcttaact tttgaaatat
     1021 gttttacttg aatgttacat tagatattgg tgtcagaatt ttaaaaccaa attactgctt
     1081 tttgaaacct caaattatat aatgtatctt atgtatgtgc tttatattgt tatttgtgta
     1141 tacattaaaa taattctgaa ttatttaatc tgatatgttg tattctgtat cttgaaattt
     1201 ttgtttcctt gaaacatgca tgcatttaaa aataaagctt aaacaactgt atggatgtta
     1261 catttacttt cttttgattt ttctgaaagt cattcactga attttacaca tgtggaataa
     1321 acagtgtctt ttctaaggca a
//
