LOCUS       NM_001372574            4347 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ataxin 2 (ATXN2), transcript variant 5, mRNA.
ACCESSION   NM_001372574
VERSION     NM_001372574.1
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 4347)
  AUTHORS   Drobotenko,M.I., Lyasota,O.M., Hernandez-Caceres,J.L.,
            Labrada,R.R., Svidlov,A.A., Dorohova capital,A. CyrillicA,
            Baryshev,M.G., Nechipurenko,Y.D., Perez,L.V. and Dzhimak,S.S.
  TITLE     Abnormal open states patterns in the ATXN2 DNA sequence depends on
            the CAG repeats length
  JOURNAL   Int J Biol Macromol 276 (Pt 1), 133849 (2024)
   PUBMED   39004246
  REMARK    GeneRIF: Abnormal open states patterns in the ATXN2 DNA sequence
            depends on the CAG repeats length.
REFERENCE   2  (bases 1 to 4347)
  AUTHORS   Yamagishi,R., Inagaki,H., Suzuki,J., Hosoda,N., Sugiyama,H.,
            Tomita,K., Hotta,T. and Hoshino,S.I.
  TITLE     Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A) tail in
            the formation of stress granules
  JOURNAL   Nucleic Acids Res 52 (15), 9193-9209 (2024)
   PUBMED   38869059
  REMARK    GeneRIF: Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A)
            tail in the formation of stress granules.
REFERENCE   3  (bases 1 to 4347)
  AUTHORS   Petrauskas,A., Fortunati,D.L., Kandi,A.R., Pothapragada,S.S.,
            Agrawal,K., Singh,A., Huelsmeier,J., Hillebrand,J., Brown,G.,
            Chaturvedi,D., Lee,J., Lim,C., Auburger,G., VijayRaghavan,K.,
            Ramaswami,M. and Bakthavachalu,B.
  TITLE     Structured and disordered regions of Ataxin-2 contribute
            differently to the specificity and efficiency of mRNP granule
            formation
  JOURNAL   PLoS Genet 20 (5), e1011251 (2024)
   PUBMED   38768217
  REMARK    GeneRIF: Structured and disordered regions of Ataxin-2 contribute
            differently to the specificity and efficiency of mRNP granule
            formation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4347)
  AUTHORS   Scoles,D.R., Ho,M.H., Dansithong,W., Pflieger,L.T., Petersen,L.W.,
            Thai,K.K. and Pulst,S.M.
  TITLE     Repeat Associated Non-AUG Translation (RAN Translation) Dependent
            on Sequence Downstream of the ATXN2 CAG Repeat
  JOURNAL   PLoS One 10 (6), e0128769 (2015)
   PUBMED   26086378
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4347)
  AUTHORS   Sahba,S., Nechiporuk,A., Figueroa,K.P., Nechiporuk,T. and
            Pulst,S.M.
  TITLE     Genomic structure of the human gene for spinocerebellar ataxia type
            2 (SCA2) on chromosome 12q24.1
  JOURNAL   Genomics 47 (3), 359-364 (1998)
   PUBMED   9480749
REFERENCE   6  (bases 1 to 4347)
  AUTHORS   Imbert,G., Saudou,F., Yvert,G., Devys,D., Trottier,Y.,
            Garnier,J.M., Weber,C., Mandel,J.L., Cancel,G., Abbas,N., Durr,A.,
            Didierjean,O., Stevanin,G., Agid,Y. and Brice,A.
  TITLE     Cloning of the gene for spinocerebellar ataxia 2 reveals a locus
            with high sensitivity to expanded CAG/glutamine repeats
  JOURNAL   Nat Genet 14 (3), 285-291 (1996)
   PUBMED   8896557
REFERENCE   7  (bases 1 to 4347)
  AUTHORS   Pulst,S.M., Nechiporuk,A., Nechiporuk,T., Gispert,S., Chen,X.N.,
            Lopes-Cendes,I., Pearlman,S., Starkman,S., Orozco-Diaz,G.,
            Lunkes,A., DeJong,P., Rouleau,G.A., Auburger,G., Korenberg,J.R.,
            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   8  (bases 1 to 4347)
  AUTHORS   Gispert,S., Twells,R., Orozco,G., Brice,A., Weber,J., Heredero,L.,
            Scheufler,K., Riley,B., Allotey,R., Nothers,C. et al.
  TITLE     Chromosomal assignment of the second locus for autosomal dominant
            cerebellar ataxia (SCA2) to chromosome 12q23-24.1
  JOURNAL   Nat Genet 4 (3), 295-299 (1993)
   PUBMED   8358438
REFERENCE   9  (bases 1 to 4347)
  AUTHORS   Pulst,S.M.
  TITLE     Spinocerebellar Ataxia Type 2
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301452
REFERENCE   10 (bases 1 to 4347)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137055.12 and AC002395.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene belongs to a group of genes that is associated
            with microsatellite-expansion diseases, a class of neurological and
            neuromuscular disorders caused by expansion of short stretches of
            repetitive DNA. The protein encoded by this gene has two globular
            domains near the N-terminus, one of which contains a
            clathrin-mediated trans-Golgi signal and an endoplasmic reticulum
            exit signal. The encoded cytoplasmic protein localizes to the
            endoplasmic reticulum and plasma membrane, is involved in
            endocytosis, and modulates mTOR signals, modifying ribosomal
            translation and mitochondrial function. The N-terminal region of
            the protein contains a polyglutamine tract of 14-31 residues that
            can be expanded in the pathogenic state to 32-200 residues.
            Intermediate length expansions of this tract increase
            susceptibility to amyotrophic lateral sclerosis, while long
            expansions of this tract result in spinocerebellar ataxia-2, an
            autosomal-dominantly inherited, neurodegenerative disorder.
            Genome-wide association studies indicate that loss-of-function
            mutations in this gene may be associated with susceptibility to
            type I diabetes, obesity and hypertension. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Nov
            2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038193.2460325.1,
                                           SRR14038197.2499316.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000673436.1/ ENSP00000500925.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-532               AC137055.12        79294-79825
            533-569             AC002395.1         16979-17015
            570-629             AC002395.1         18681-18740
            630-701             AC002395.1         19921-19992
            702-852             AC002395.1         20468-20618
            853-977             AC002395.1         47582-47706
            978-1069            AC002395.1         51925-52016
            1070-1267           AC002395.1         52822-53019
            1268-1446           AC002395.1         54471-54649
            1447-1656           AC002395.1         56535-56744
            1657-1839           AC002395.1         59359-59541
            1840-2037           AC002395.1         62316-62513
            2038-2145           AC002395.1         62900-63007
            2146-2216           AC002395.1         63279-63349
            2217-2521           AC002395.1         84118-84422
            2522-2585           AC002395.1         86074-86137
            2586-2738           AC002395.1         87033-87185
            2739-2805           AC002395.1         87567-87633
            2806-2990           AC002395.1         102156-102340
            2991-3123           AC002395.1         102658-102790
            3124-3177           AC002395.1         108183-108236
            3178-3323           AC002395.1         115539-115684
            3324-3551           AC002395.1         116642-116869
            3552-3720           AC002395.1         119053-119221
            3721-4347           AC002395.1         120058-120684
FEATURES             Location/Qualifiers
     source          1..4347
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.12"
     gene            1..4347
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /note="ataxin 2"
                     /db_xref="GeneID:6311"
                     /db_xref="HGNC:HGNC:10555"
                     /db_xref="MIM:601517"
     exon            1..532
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            533..569
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            570..629
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            630..701
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            702..852
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            853..977
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1069
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1267
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1446
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1656
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1839
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            1840..2037
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2145
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..2216
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2521
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2522..2585
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2586..2738
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2739..2805
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2806..2990
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            2991..3123
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            3124..3177
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            3178..3323
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            3324..3551
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            3552..3720
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     exon            3721..4347
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4324..4329
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /note="hexamer: AATAAA"
     polyA_site      4347
                     /gene="ATXN2"
                     /gene_synonym="ATX2; SCA2; TNRC13"
                     /note="major polyA site"
ORIGIN      
        1 agagctcgcc tccctccgcc tcagactgtt ttggtagcaa cggcaacggc ggcggcgcgt
       61 ttcggcccgg ctcccggcgg ctccttggtc tcggcgggcc tccccgcccc ttcgtcgtcc
      121 tccttctccc cctcgccagc ccgggcgccc ctccggccgc gccaacccgc gcctccccgc
      181 tcggcgcccg cgcgtccccg ccgcgttccg gcgtctcctt ggcgcgcccg gctcccggct
      241 gtccccgccc ggcgtgcgag ccggtgtatg ggcccctcac catgtcgctg aagccccagc
      301 agcagcagca gcagcagcag cagcagcagc agcagcaaca gcagcagcag cagcagcagc
      361 agcagccgcc gcccgcggct gccaatgtcc gcaagcccgg cggcagcggc cttctagcgt
      421 cgcccgccgc cgcgccttcg ccgtcctcgt cctcggtctc ctcgtcctcg gccacggctc
      481 cctcctcggt ggtcgcggcg acctccggcg gcgggaggcc cggcctgggc agaggtcgaa
      541 acagtaacaa aggactgcct cagtctacga tttcttttga tggaatctat gcaaatatga
      601 ggatggttca tatacttaca tcagttgttg gctccaaatg tgaagtacaa gtgaaaaatg
      661 gaggtatata tgaaggagtt tttaaaactt acagtccgaa gtgtgatttg gtacttgatg
      721 ccgcacatga gaaaagtaca gaatccagtt cggggccgaa acgtgaagaa ataatggaga
      781 gtattttgtt caaatgttca gactttgttg tggtacagtt taaagatatg gactccagtt
      841 atgcaaaaag agatgctttt actgactctg ctatcagtgc taaagtgaat ggcgaacaca
      901 aagagaagga cctggagccc tgggatgcag gtgaactcac agccaatgag gaacttgagg
      961 ctttggaaaa tgacgtatct aatggatggg atcccaatga tatgtttcga tataatgaag
     1021 aaaattatgg tgtagtgtct acgtatgata gcagtttatc ttcgtataca gtgcccttag
     1081 aaagagataa ctcagaagaa tttttaaaac gggaagcaag ggcaaaccag ttagcagaag
     1141 aaattgagtc aagtgcccag tacaaagctc gagtggccct ggaaaatgat gataggagtg
     1201 aggaagaaaa atacacagca gttcagagaa attccagtga acgtgagggg cacagcataa
     1261 acactaggga aaataaatat attcctcctg gacaaagaaa tagagaagtc atatcctggg
     1321 gaagtgggag acagaattca ccgcgtatgg gccagcctgg atcgggctcc atgccatcaa
     1381 gatccacttc tcacacttca gatttcaacc cgaattctgg ttcagaccaa agagtagtta
     1441 atggaggtgt tccctggcca tcgccttgcc catctccttc ctctcgccca ccttctcgct
     1501 accagtcagg tcccaactct cttccacctc gggcagccac ccctacacgg ccgccctcca
     1561 ggcccccctc gcggccatcc agacccccgt ctcacccctc tgctcatggt tctccagctc
     1621 ctgtctctac tatgcctaaa cgcatgtctt cagaagggcc tccaaggatg tccccaaagg
     1681 cccagcgaca tcctcgaaat cacagagttt ctgctgggag gggttccata tccagtggcc
     1741 tagaatttgt atcccacaac ccacccagtg aagcagctac tcctccagta gcaaggacca
     1801 gtccctcggg gggaacgtgg tcatcagtgg tcagtggggt tccaagatta tcccctaaaa
     1861 ctcatagacc caggtctccc agacagaaca gtattggaaa tacccccagt gggccagttc
     1921 ttgcttctcc ccaagctggt attattccaa ctgaagctgt tgccatgcct attccagctg
     1981 catctcctac gcctgctagt cctgcatcga acagagctgt taccccttct agtgaggcta
     2041 aagattccag gcttcaagat cagaggcaga actctcctgc agggaataaa gaaaatatta
     2101 aacccaatga aacatcacct agcttctcaa aagctgaaaa caaaggtata tcaccagttg
     2161 tttctgaaca tagaaaacag attgatgatt taaagaaatt taagaatgat tttaggttac
     2221 agccaagttc tacttctgaa tctatggatc aactactaaa caaaaataga gagggagaaa
     2281 aatcaagaga tttgatcaaa gacaaaattg aaccaagtgc taaggattct ttcattgaaa
     2341 atagcagcag caactgtacc agtggcagca gcaagccgaa tagccccagc atttcccctt
     2401 caatacttag taacacggag cacaagaggg gacctgaggt cacttcccaa ggggttcaga
     2461 cttccagccc agcatgtaaa caagagaaag acgataagga agagaagaaa gacgcagctg
     2521 agcaagttag gaaatcaaca ttgaatccca atgcaaagga gttcaaccca cgttccttct
     2581 ctcagccaaa gccttctact accccaactt cacctcggcc tcaagcacaa cctagcccat
     2641 ctatggtggg tcatcaacag ccaactccag tttatactca gcctgtttgt tttgcaccaa
     2701 atatgatgta tccagtccca gtgagcccag gcgtgcaacc tttataccca atacctatga
     2761 cgcccatgcc agtgaatcaa gccaagacat atagagcagg taaagtacca aatatgcccc
     2821 aacagcggca agaccagcat catcagagtg ccatgatgca cccagcgtca gcagcgggcc
     2881 caccgattgc agccacccca ccagcttact ccacgcaata tgttgcctac agtcctcagc
     2941 agttcccaaa tcagcccctt gttcagcatg tgccacatta tcagtctcag catcctcatg
     3001 tctatagtcc tgtaatacag ggtaatgcta gaatgatggc accaccaaca cacgcccagc
     3061 ctggtttagt atcttcttca gcaactcagt acggggctca tgagcagacg catgcgatgt
     3121 atgcatgtcc caaattacca tacaacaagg agacaagccc ttctttctac tttgccattt
     3181 ccacgggctc ccttgctcag cagtatgcgc accctaacgc taccctgcac ccacatactc
     3241 cacaccctca gccttcagct acccccactg gacagcagca aagccaacat ggtggaagtc
     3301 atcctgcacc cagtcctgtt cagcaccatc agcaccaggc cgcccaggct ctccatctgg
     3361 ccagtccaca gcagcagtca gccatttacc acgcggggct tgcgccaact ccaccctcca
     3421 tgacacctgc ctccaacacg cagtcgccac agaatagttt cccagcagca caacagactg
     3481 tctttacgat ccatccttct cacgttcagc cggcgtatac caacccaccc cacatggccc
     3541 acgtacctca ggctcatgta cagtcaggaa tggttccttc tcatccaact gcccatgcgc
     3601 caatgatgct aatgacgaca cagccacccg gcggtcccca ggccgccctc gctcaaagtg
     3661 cactacagcc cattccagtc tcgacaacag cgcatttccc ctatatgacg cacccttcag
     3721 tacaagccca ccaccaacag cagttgtaag gctgccctgg aggaaccgaa aggccaaatt
     3781 ccctcctccc ttctactgct tctaccaact ggaagcacag aaaactagaa tttcatttat
     3841 tttgttttta aaatatatat gttgatttct tgtaacatcc aataggaatg ctaacagttc
     3901 acttgcagtg gaagatactt ggaccgagta gaggcattta ggaacttggg ggctattcca
     3961 taattccata tgctgtttca gagtcccgca ggtaccccag ctctgcttgc cgaaactgga
     4021 agttatttat tttttaataa cccttgaaag tcatgaacac atcagctagc aaaagaagta
     4081 acaagagtga ttcttgctgc tattactgct aaaaaaaaaa aaaaaaaaaa atcaagactt
     4141 ggaacgccct tttactaaac ttgacaaagt ttcagtaaat tcttaccgtc aaactgacgg
     4201 attattattt ataaatcaag tttgatgagg tgatcactgt ctacagtggt tcaactttta
     4261 agttaaggga aaaactttta ctttgtagat aatataaaat aaaaacttaa aaaaaattta
     4321 aaaaataaaa aaagttttaa aaactga
//
