LOCUS       NM_009125               4505 bp    mRNA    linear   ROD 09-MAR-2023
DEFINITION  Mus musculus ataxin 2 (Atxn2), transcript variant 1, mRNA.
ACCESSION   NM_009125 XM_915087
VERSION     NM_009125.2
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 4505)
  AUTHORS   Sundberg CA, Lakk M, Paul S, P Figueroa K, Scoles DR, Pulst SM and
            Krizaj D.
  TITLE     The RNA-binding protein and stress granule component ATAXIN-2 is
            expressed in mouse and human tissues associated with glaucoma
            pathogenesis
  JOURNAL   J Comp Neurol 530 (2), 537-552 (2022)
   PUBMED   34350994
REFERENCE   2  (bases 1 to 4505)
  AUTHORS   Khang R, Jo A, Kang H, Kim H, Kwag E, Lee JY, Koo O, Park J, Kim
            HK, Jo DG, Hwang I, Ahn JY, Lee Y, Choi JY, Lee YS and Shin JH.
  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   3  (bases 1 to 4505)
  AUTHORS   Canet-Pons J, Sen NE, Arsovic A, Almaguer-Mederos LE, Halbach MV,
            Key J, Doring C, Kerksiek A, Picchiarelli G, Cassel R, Rene F,
            Dieterle S, Fuchs NV, Konig R, Dupuis L, Lutjohann D, Gispert S and
            Auburger G.
  TITLE     Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43
            pathology associated with cholesterol biosynthesis suppression
  JOURNAL   Neurobiol Dis 152, 105289 (2021)
   PUBMED   33577922
REFERENCE   4  (bases 1 to 4505)
  AUTHORS   Watanabe R, Higashi S, Nonaka T, Kawakami I, Oshima K, Niizato K,
            Akiyama H, Yoshida M, Hasegawa M and Arai T.
  TITLE     Intracellular dynamics of Ataxin-2 in the human brains with normal
            and frontotemporal lobar degeneration with TDP-43 inclusions
  JOURNAL   Acta Neuropathol Commun 8 (1), 176 (2020)
   PUBMED   33115537
  REMARK    GeneRIF: Intracellular dynamics of Ataxin-2 in the human brains
            with normal and frontotemporal lobar degeneration with TDP-43
            inclusions.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4505)
  AUTHORS   Arsovic A, Halbach MV, Canet-Pons J, Esen-Sehir D, Doring C,
            Freudenberg F, Czechowska N, Seidel K, Baader SL, Gispert S, Sen NE
            and Auburger G.
  TITLE     Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium
            Signaling Factors, Impairing Granule-Purkinje Neuron Synaptic
            Strength
  JOURNAL   Int J Mol Sci 21 (18), 6673 (2020)
   PUBMED   32932600
  REMARK    GeneRIF: Mouse Ataxin-2 Expansion Downregulates CamKII and Other
            Calcium Signaling Factors, Impairing Granule-Purkinje Neuron
            Synaptic Strength.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4505)
  AUTHORS   Orr HT.
  TITLE     The ins and outs of a polyglutamine neurodegenerative disease:
            spinocerebellar ataxia type 1 (SCA1)
  JOURNAL   Neurobiol Dis 7 (3), 129-134 (2000)
   PUBMED   10860780
  REMARK    Review article
REFERENCE   7  (bases 1 to 4505)
  AUTHORS   Nechiporuk T, Huynh DP, Figueroa K, Sahba S, Nechiporuk A and Pulst
            SM.
  TITLE     The mouse SCA2 gene: cDNA sequence, alternative splicing and
            protein expression
  JOURNAL   Hum Mol Genet 7 (8), 1301-1309 (1998)
   PUBMED   9668173
REFERENCE   8  (bases 1 to 4505)
  AUTHORS   Crozet F, el Amraoui A, Blanchard S, Lenoir M, Ripoll C, Vago P,
            Hamel C, Fizames C, Levi-Acobas F, Depetris D, Mattei MG, Weil D,
            Pujol R and Petit C.
  TITLE     Cloning of the genes encoding two murine and human cochlear
            unconventional type I myosins
  JOURNAL   Genomics 40 (2), 332-341 (1997)
   PUBMED   9119401
REFERENCE   9  (bases 1 to 4505)
  AUTHORS   Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN,
            Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A,
            DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C and
            Sahba S.
  TITLE     Moderate expansion of a normally biallelic trinucleotide repeat in
            spinocerebellar ataxia type 2
  JOURNAL   Nat Genet 14 (3), 269-276 (1996)
   PUBMED   8896555
REFERENCE   10 (bases 1 to 4505)
  AUTHORS   Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S,
            Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al.
  TITLE     CAG expansions in a novel gene for Machado-Joseph disease at
            chromosome 14q32.1
  JOURNAL   Nat Genet 8 (3), 221-228 (1994)
   PUBMED   7874163
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116104.7, AF041472.1, AK135976.1 and AA178023.1.
            
            [WARNING] On Apr 17, 2023 this sequence was replaced by
            NM_009125.3.
            
            On Jan 26, 2007 this sequence version replaced NM_009125.1.
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AF041472.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-345               AC116104.7         79759-80103         c
            346-1044            AF041472.1         345-1043
            1045-4400           AK135976.1         2-3357
            4401-4505           AA178023.1         258-362
FEATURES             Location/Qualifiers
     source          1..4505
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5"
     gene            1..4505
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /note="ataxin 2"
                     /db_xref="GeneID:20239"
                     /db_xref="MGI:MGI:1277223"
     exon            1..668
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            669..705
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..765
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            766..837
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            838..988
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1110
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1202
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1400
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1579
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1789
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1972
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            1973..2170
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2278
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2349
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2350..2660
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2661..2724
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2725..2877
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2878..2944
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            2945..3129
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3130..3262
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3263..3316
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3317..3462
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3463..3690
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3691..3859
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
     exon            3860..4472
                     /gene="Atxn2"
                     /gene_synonym="9630045M23Rik; ATX2; Sca2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ccgtccgcgt ccgccagccc gggtcccatg cgttcgtcca ccgccgccgc tcagcggccc
       61 gcggcggggg accccgagcc gcgccgcccg gcgggctggg ccgcgcggcg ctcgctcccg
      121 cggacggcgc ggcgcggcgg gcggggcggc gcggtggcgt atccctccgc cggccctccc
      181 ccgcgcggcc ccggcgcccc tccccgcggg ccgcgctcgc caccctgcgc ctcagactgt
      241 tttggtagca acggccacgg cgcgtcccgg cccggctccc ggcggctgct cggtgtctgc
      301 gggcctcccc gccccttcgt cgttgtcctg ctgcctctgg cccccgcggc cacgccggcc
      361 cgcgcctgcc cgcccggcgt ccgcgcgtcc ccgccgcgct ccggcgtctc ctcctcggcg
      421 cgcccggcac ccggctgtcc ccgcccggcg tgcgagccgg tgtatgggcc gctcaccatg
      481 tcgctgaagc cgcagccgca gccgcccgcg cccgccactg gccgcaagcc cggcggcggc
      541 ctgctctcgt cgcccggcgc cgcgccggcc tcggccgcgg tgacctcggc ttccgtggtg
      601 ccggccccgg ccgcgccggt ggcgtcttcc tcggcggccg cgggcggcgg gcgtcccggc
      661 ctgggcagag gtcggaacag tagcaaagga ctgcctcagc ctacgatttc ttttgatgga
      721 atctatgcaa acgtgaggat ggttcatata cttacgtcag ttgttggatc gaaatgtgaa
      781 gtacaagtga aaaacggagg catatatgaa ggagttttta aaacatacag tcctaagtgt
      841 gacttggtac ttgatgctgc acatgagaaa agtacagaat ccagttcggg gccaaaacgt
      901 gaagaaataa tggagagtgt tttgttcaaa tgctcagact tcgttgtggt acagtttaaa
      961 gatacagact ccagttatgc acggagagat gcttttactg actctgctct cagcgcaaag
     1021 gtgaatggtg agcacaagga gaaggacctg gagccctggg atgcagggga gctcacggcc
     1081 agcgaggagc tggagctgga gaatgatgtg tctaatggat gggaccccaa tgacatgttt
     1141 cgatataatg aagagaatta tggtgtggtg tccacatatg atagcagttt atcttcatat
     1201 acggttcctt tagaaaggga caactcagaa gaatttctta aacgggaggc aagggcaaac
     1261 cagttagcag aagaaattga atccagtgct cagtacaaag ctcgtgtcgc ccttgagaat
     1321 gatgaccgga gtgaggaaga aaaatacaca gcagtccaga gaaactgcag tgaccgggag
     1381 gggcatggcc ccaacactag ggacaataaa tatattcctc ctggacaaag aaacagagaa
     1441 gtcctatcct ggggaagtgg gagacagagc tcaccacgga tgggccagcc tgggccaggc
     1501 tccatgccgt caagagctgc ttctcacact tcagatttca acccgaacgc tggctcagac
     1561 caaagagtag ttaatggagg tgttccctgg ccatcgcctt gcccatctcc ttcctctcgc
     1621 ccaccttctc gctaccagtc aggtcccaac tctcttccac ctcgggcagc cacccctaca
     1681 cggccgccct ccaggccccc ctcgaggccc tccagacccc cgtctcaccc ctctgctcat
     1741 ggttctccag ctcctgtctc tactatgcct aaacgcatgt cttcagaagg acccccaagg
     1801 atgtctccaa aggcacagcg ccaccctcgg aatcacagag tctctgctgg gagaggctcc
     1861 atgtctagtg gcctagaatt tgtatcccac aatcccccaa gtgaagcagc tgctcctcca
     1921 gtggcaagga ccagtcctgc agggggaacg tggtcctcag tggtcagtgg ggttccaagg
     1981 ttatctccca aaactcacag acccaggtct cccaggcaga gcagcattgg aaactctccc
     2041 agcgggcctg tgcttgcttc tccccaagct ggcatcatcc ctgcagaagc cgtttccatg
     2101 cctgttcccg ccgcatctcc gactcctgcc agccctgcat ccaacagagc actgacccca
     2161 tctattgagg caaaagattc caggcttcaa gatcagaggc agaactctcc tgcagggagt
     2221 aaagaaaatg ttaaagcaag tgaaacatca cctagctttt caaaagctga caacaaaggt
     2281 atgtcaccag ttgtttctga acacagaaaa cagattgatg acttaaagaa gtttaagaat
     2341 gattttaggt tacagccaag ctctacatct gaatctatgg atcaactact aagcaaaaat
     2401 agagaaggag aaaagtcacg agatttgatt aaagataaaa cggaagcaag tgctaaggat
     2461 agtttcattg acagcagcag cagcagcagc aactgtacca gtggcagcag caagaccaac
     2521 agccctagca tctccccttc catgcttagt aatgcagagc acaagagggg gcctgaggtc
     2581 acatcccaag gggtgcagac ttccagccca gcctgcaaac aagagaagga tgacagagaa
     2641 gagaagaaag acacaacaga gcaggttagg aaatcgacat tgaatcccaa tgcaaaggag
     2701 ttcaaccctc gttctttctc tcagccaaag ccttctacta ccccaacgtc acctcggcct
     2761 caagcacaac ccagcccatc tatggtgggt catcagcagc cagctccagt gtacactcag
     2821 cctgtgtgct tcgcacccaa tatgatgtat cccgtcccag tgagcccggg cgtacaacct
     2881 ttatacccaa tacctatgac gcccatgcct gtgaaccaag ccaagacata tagagcaggt
     2941 aaagtaccaa atatgcccca acagcgacaa gaccaacatc atcaaagcac catgatgcac
     3001 ccagcctccg cggcagggcc acccatcgta gccaccccgc ccgcttactc cactcagtac
     3061 gttgcctaca gccctcagca gtttcccaat cagcctttgg tccagcatgt gccgcattat
     3121 cagtctcagc atcctcatgt gtacagtcct gtcatacaag gtaatgccag gatgatggca
     3181 ccaccagcac atgctcagcc tggtttagtg tcttcttcag ctgctcagtt cggggctcac
     3241 gagcagacgc acgccatgta tgcatgtccc aaattaccat acaacaagga gacaagccct
     3301 tctttctact ttgccatttc caccggctcc ctcgctcagc agtatgcaca tcctaatgcc
     3361 gccctgcatc cacatactcc ccatcctcag ccttcggcca ctcccaccgg acagcagcaa
     3421 agccagcatg gtggaagtca ccctgcaccc agtcctgttc agcaccatca gcaccaggct
     3481 gcccaggctc ttcatctggc cagtccacag cagcagtcgg ccatttatca tgcggggctg
     3541 gcaccaacac caccttccat gacacctgcc tctaatacac agtctccaca gagcagtttc
     3601 ccagcagcac aacagacagt cttcaccatc cacccttctc atgttcagcc ggcatacacc
     3661 accccacccc acatggccca cgtacctcag gctcatgtac agtcaggaat ggttccttct
     3721 catccaactg cccatgcgcc aatgatgcta atgacgacac agccacccgg cggtccccag
     3781 gccgccctcg ctcaaagtgc actacagccc attccagtct cgacaacagc gcatttccct
     3841 tatatgacgc acccttcagt acaagcccac caccaacagc agttgtaagg ctgccctgga
     3901 ggaaccgaaa ggccaaatcc cctcctccct tctcctgctt ctgccaaccg gaagcacaga
     3961 aaactagaac ttcattgatt ttgtttttta aaagatacac tgatttaaca tctgatagga
     4021 atgctaacag ctcacttgca gtggaggatg ttttggaccg agtagaggca tgtagggact
     4081 tgtggctgtt ccataattcc atgtgctgtt gcagggtcct gcaagtaccc agctctgctt
     4141 gctgaaactg gaagttattt attttttaat ggcccttgag agtcatgaac acatcagcta
     4201 gcaacagaag taacaagagt gattcttgct gctattaccg ctttaaaaaa aaaaaatcaa
     4261 gacttggaac gcccttttac taaacttgac agaagttcag taaattctta ccgccaaact
     4321 gacggattat tatttataaa tcaagtttga tgaggcgatc actgtctaca gtggttcaac
     4381 ttttaagtta agggaaaact tttactttgt agataatata aaataaaaac taaaaaaaaa
     4441 aattaaaaaa taaaaaaagt tttaaaaact gaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     4501 aaaaa
//
