LOCUS       NM_027130               3142 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus AFG3-like AAA ATPase 2 (Afg3l2), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_027130 XM_001000481 XM_128950
VERSION     NM_027130.2
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 3142)
  AUTHORS   Khang,R., Jo,A., Kang,H., Kim,H., Kwag,E., Lee,J.Y., Koo,O.,
            Park,J., Kim,H.K., Jo,D.G., Hwang,I., Ahn,J.Y., Lee,Y., Choi,J.Y.,
            Lee,Y.S. and Shin,J.H.
  TITLE     Loss of zinc-finger protein 212 leads to Purkinje cell death and
            locomotive abnormalities with phospholipase D3 downregulation
  JOURNAL   Sci Rep 11 (1), 22745 (2021)
   PUBMED   34815492
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3142)
  AUTHORS   Bettegazzi,B., Pelizzoni,I., Salerno Scarzella,F., Restelli,L.M.,
            Zacchetti,D., Maltecca,F., Casari,G., Grohovaz,F. and Codazzi,F.
  TITLE     Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons
            In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell
            Survival under Neurodegenerative Conditions
  JOURNAL   Oxid Med Cell Longev 2019, 4721950 (2019)
   PUBMED   31781336
  REMARK    GeneRIF: Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO
            Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for
            Neuronal Cell Survival under Neurodegenerative Conditions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3142)
  AUTHORS   Murru,S., Hess,S., Barth,E., Almajan,E.R., Schatton,D., Hermans,S.,
            Brodesser,S., Langer,T., Kloppenburg,P. and Rugarli,E.I.
  TITLE     Astrocyte-specific deletion of the mitochondrial m-AAA protease
            reveals glial contribution to neurodegeneration
  JOURNAL   Glia 67 (8), 1526-1541 (2019)
   PUBMED   30989755
  REMARK    GeneRIF: Astrocyte-specific deletion of Afg3l2 in the mouse leads
            to late-onset motor impairment and to degeneration of BG, which
            display aberrant morphology, altered expression of the glutamate
            transporter EAAT2, and a reactive inflammatory signature. The
            neurological and glial phenotypes are drastically exacerbated when
            astrocytes lack both Afg31l and Afg3l2, and therefore, are totally
            depleted of the m-AAA protease.
REFERENCE   4  (bases 1 to 3142)
  AUTHORS   Tulli,S., Del Bondio,A., Baderna,V., Mazza,D., Codazzi,F.,
            Pierson,T.M., Ambrosi,A., Nolte,D., Goizet,C., Toro,C., Baets,J.,
            Deconinck,T., DeJonghe,P., Mandich,P., Casari,G. and Maltecca,F.
  TITLE     Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28
            through haploinsufficiency and proteostatic stress-driven OMA1
            activation
  JOURNAL   J Med Genet 56 (8), 499-511 (2019)
   PUBMED   30910913
  REMARK    GeneRIF: Our data identify the earliest events in SCA28
            pathogenesis and open new perspectives for therapy. By identifying
            similar mitochondrial phenotypes between SCA28 cells and
            AFG3L2(+/-) cells, our results support haploinsufficiency as the
            mechanism for the studied pathogenic variants.
REFERENCE   5  (bases 1 to 3142)
  AUTHORS   Mancini,C., Hoxha,E., Iommarini,L., Brussino,A., Richter,U.,
            Montarolo,F., Cagnoli,C., Parolisi,R., Gondor Morosini,D.I.,
            Nicolo,V., Maltecca,F., Muratori,L., Ronchi,G., Geuna,S.,
            Arnaboldi,F., Donetti,E., Giorgio,E., Cavalieri,S., Di Gregorio,E.,
            Pozzi,E., Ferrero,M., Riberi,E., Casari,G., Altruda,F., Turco,E.,
            Gasparre,G., Battersby,B.J., Porcelli,A.M., Ferrero,E., Brusco,A.
            and Tempia,F.
  TITLE     Mice harbouring a SCA28 patient mutation in AFG3L2 develop
            late-onset ataxia associated with enhanced mitochondrial
            proteotoxicity
  JOURNAL   Neurobiol Dis 124, 14-28 (2019)
   PUBMED   30389403
REFERENCE   6  (bases 1 to 3142)
  AUTHORS   Tuveson,D.A. and Jacks,T.
  TITLE     Modeling human lung cancer in mice: similarities and shortcomings
  JOURNAL   Oncogene 18 (38), 5318-5324 (1999)
   PUBMED   10498884
  REMARK    Review article
REFERENCE   7  (bases 1 to 3142)
  AUTHORS   Burgoyne,P.S., Mahadevaiah,S.K., Perry,J., Palmer,S.J. and
            Ashworth,A.
  TITLE     The Y* rearrangement in mice: new insights into a perplexing PAR
  JOURNAL   Cytogenet Cell Genet 80 (1-4), 37-40 (1998)
   PUBMED   9678332
REFERENCE   8  (bases 1 to 3142)
  AUTHORS   Blondet,B., Murawsky,M., Houenou,L.J., Li,L., Ait-Ikhlef,A., Yan,Q.
            and Rieger,F.
  TITLE     Brain-derived neurotrophic factor fails to arrest neuromuscular
            disorders in the paralyse mouse mutant, a model of motoneuron
            disease
  JOURNAL   J Neurol Sci 153 (1), 20-24 (1997)
   PUBMED   9455973
REFERENCE   9  (bases 1 to 3142)
  AUTHORS   Houenou,L.J., Blondet,B., Li,L., Murawsky,M., Oppenheim,R.W. and
            Rieger,F.
  TITLE     The paralyse mouse mutant: a new animal model of anterior horn
            motor neuron degeneration
  JOURNAL   J Neuropathol Exp Neurol 55 (6), 698-703 (1996)
   PUBMED   8642395
REFERENCE   10 (bases 1 to 3142)
  AUTHORS   Blondet,B., Duxson,M.J., Harris,A.J., Melki,J., Guenet,J.L.,
            Pincon-Raymond,M. and Rieger,F.
  TITLE     Nerve and muscle development in paralyse mutant mice
  JOURNAL   Dev Biol 132 (1), 153-166 (1989)
   PUBMED   2917690
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK168668.1 and BC043056.1.
            
            On Jul 21, 2018 this sequence version replaced NM_027130.1.
            
            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 :: BC043056.1, SRR7345562.757211.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AK168668.1         2-57
            57-3142             BC043056.1         1-3086
FEATURES             Location/Qualifiers
     source          1..3142
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 39.96 cM"
     gene            1..3142
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /note="AFG3-like AAA ATPase 2"
                     /db_xref="GeneID:69597"
                     /db_xref="MGI:MGI:1916847"
     exon            1..305
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            306..405
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            406..483
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            484..587
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            588..740
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            741..815
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            816..940
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1214
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1352
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1506
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1614
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1740
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1851
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1967
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2168
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            2169..2363
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     exon            2364..3114
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3079..3084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /note="hexamer: AATAAA"
     polyA_site      3114
                     /gene="Afg3l2"
                     /gene_synonym="2310036I02Rik; Emv66; par"
                     /note="major polyA site"
ORIGIN      
        1 gtccgcacgc tggggcggag cctggcgagc acgcgtggag cgtgggttcg cgttctgtcg
       61 cgggtctcct gcgccggtgg cgcgcagttt ccgaagaacc gataagctgc ggaagccgcg
      121 aaagctgcgg gccgccgatc gcccgcctcg gctccgtgcc tgcgcgcgcc ccagagcggg
      181 ccgggcccac catggcccac cgctgcctgc tgctgtggag ccggggcggc tgccgtcgcg
      241 gccttcctcc cctgctcgtg cccagaggtt gcctgggtcc ggaccggcgg ccctgcctcc
      301 gtacgctcta tcaatatgct actgtccaga cagcaagcag caggcgttct ctgctgaggg
      361 atgtaattgc tgcttatcaa agattctgtt ctcgacctcc caaaggattt gaaaagtact
      421 ttcctaatgg gaaaaacgga aaaaaggcca gtgagcctaa ggaggctgtt ggagaaaaaa
      481 aagaaccaca gccctcgggc ccccagcctt ctggaggtgc aggtggtggg ggagggaagc
      541 gccgtggcaa gaaagaagat tctcactggt ggtccaggtt ccagaagggt gacttcccat
      601 gggatgacaa ggatttcagg atgtactttc tctggactgc tcttttttgg ggtggagtca
      661 tgatttactt cgtgttcaag agctctggga gagaaatcac gtggaaagac tttgtcaata
      721 actatctttc taagggcgtg gtggacagac tagaagttgt caacaagcgt tttgttcgtg
      781 tgacctttac accaggaaaa actccggttg atgggcaata cgtctggttt aatattggca
      841 gtgttgacac atttgagcgg aatctggaga ctttgcagca agaattgggc atagaagggg
      901 agaaccgggt ccctgtggtt tatattgctg agagcgatgg ctccttcctg ctgagcatgt
      961 tgcccaccgt actcattatc gcttttctac tctacaccat aagaagaggg cccgctggca
     1021 ttggtcggac cggccgggga atgggtggac tcttcagcgt tggggaaacc acagccaagg
     1081 tcttaaagga tgagatagat gtgaagttta aagatgtggc tggctgtgag gaggccaagc
     1141 tagaaataat ggaattcgtg aatttcttga aaaacccaaa gcaatatcaa gacctaggag
     1201 caaaaatccc aaagggtgcc attctcaccg gtcccccagg tactgggaag acgctgctag
     1261 ctaaggccac agctggagaa gccaatgtcc cctttatcac tgtgagcgga tctgagtttc
     1321 tggagatgtt tgttggcgtt ggtccagcca gagtccgaga cttatttgcc cttgctcgga
     1381 agaatgcgcc ttgcattctc ttcattgatg agattgatgc tgtgggaagg aagcgcggca
     1441 gaggcaactt cggtgggcag agcgagcagg agaacacact caaccagctg cttgtggaga
     1501 tggacggctt caacacaacc accaatgtgg tcatcctggc aggcacaaat cgaccagaca
     1561 tcctggatcc agctctgttg agaccaggcc gctttgacag gcagattttt attggacccc
     1621 cagacataaa aggacgagcc tcaatcttca aagttcacct tcgaccattg aagctggaca
     1681 gtgccttgga aaaagataaa ttggccagaa aactggcgtc cttaactcca gggttttcag
     1741 gcgctgatgt tgccaatgtc tgcaatgaag ctgctttgat tgctgcaaga cacctttcag
     1801 atgccattaa tgagaagcac ttcgaacaag cgattgagcg agtgattgga ggcttggaga
     1861 aaaaaaccca agttctgcag cctgaggaga agaagacggt ggcttaccac gaagcaggcc
     1921 atgcggtcgc tggctggtat ctggagcatg cagacccact cttaaaggtc tccatcatcc
     1981 cgcgtggcaa ggggctgggc tatgctcagt acttgcccaa ggagcagtat ctgtacacaa
     2041 aggagcagct gctggacagg atgtgcatga ctctgggcgg ccgtgtctcc gaggagatct
     2101 tctttgggag aattacaacc ggtgcccagg acgacttgag gaaggttacc cagagtgcct
     2161 atgcccagat cgttcagttt ggcatgaacg agaaagtggg gcagatctcc tttgacctcc
     2221 cacgacaggg ggacatggtg ttagagaagc cttacagtga ggccactgcg aggatgatag
     2281 acgatgaagt gaggatactc atcagcgatg cctacagaag gacggtggct cttctcacag
     2341 agaagaaggc tgacgtggag aaggtcgctc tcttactgtt agaaaaggaa gtcctagaca
     2401 agaatgacat ggtccagctt ctcggtccca gaccatttac agaaaagtcc acatatgaag
     2461 aatttgtgga aggcactggc agcttagacg aggacacttc tcttcctgaa ggccttcagg
     2521 attggaacaa ggagcgggag aaggaggaga agaaggagaa ggagaaggag gagccgctga
     2581 atgagaaggt tgtcagctag gccaggacct gcaggcccct ttcctttgtc ctcccagggc
     2641 ttcagtctga acaagggccc tgctgcagag ccggccgtcg agtcagccag gcggagggga
     2701 tggcctccat tgcagctgag ggcttcacaa ctgcagcaac tgccaggggc tgggaaggag
     2761 acttcctcag ccttgccctc atgaacagcg gctggaacag gagagacagc accacctgcc
     2821 gaggcctgtc ccgtggaatc ctgtcccgtg ggagaagact tttcctacca ccctctcgtc
     2881 attcctcctg tgacatctct gcagacgtgc tgtgaaattc agttggagtc ctaataagaa
     2941 tattttgatt caaccaaata ttttcaaatt tgaattcaga tcacttgttg ctgttttaat
     3001 ggaatggttt tctatagaga actgtaccat atttaaaaac atgaatgtat tatataaata
     3061 tggagtcttt atatcagaaa taaaggtgga cattgcactt ttttcctgag cataaaaaaa
     3121 aaaaaaaaaa aaaaaaaaaa aa
//
