LOCUS       NM_009814               2584 bp    mRNA    linear   ROD 17-SEP-2024
DEFINITION  Mus musculus calsequestrin 2 (Casq2), transcript variant 2, mRNA.
ACCESSION   NM_009814
VERSION     NM_009814.4
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 2584)
  AUTHORS   Tan,R.L., Sciandra,F., Hubner,W., Bozzi,M., Reimann,J., Schoch,S.,
            Brancaccio,A. and Blaess,S.
  TITLE     The missense mutation C667F in murine beta-dystroglycan causes
            embryonic lethality, myopathy and blood-brain barrier
            destabilization
  JOURNAL   Dis Model Mech 17 (6) (2024)
   PUBMED   38616731
REFERENCE   2  (bases 1 to 2584)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 2584)
  AUTHORS   Deb,A., Tow,B.D., Qing,Y., Walker,M., Hodges,E.R., Stewart,J.A.
            Jr., Knollmann,B.C., Zheng,Y., Wang,Y. and Liu,B.
  TITLE     Genetic Inhibition of Mitochondrial Permeability Transition Pore
            Exacerbates Ryanodine Receptor 2 Dysfunction in Arrhythmic Disease
  JOURNAL   Cells 12 (2), 204 (2023)
   PUBMED   36672139
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2584)
  AUTHORS   Neumann,J., Bodicker,K., Buchwalow,I.B., Schmidbaur,C., Ramos,G.,
            Frantz,S., Hofmann,U. and Gergs,U.
  TITLE     Effects of acute ischemia and hypoxia in young and adult
            calsequestrin (CSQ2) knock-out and wild-type mice
  JOURNAL   Mol Cell Biochem 477 (6), 1789-1801 (2022)
   PUBMED   35312907
  REMARK    GeneRIF: Effects of acute ischemia and hypoxia in young and adult
            calsequestrin (CSQ2) knock-out and wild-type mice.
REFERENCE   5  (bases 1 to 2584)
  AUTHORS   Canato,M., Capitanio,P., Reggiani,C. and Cancellara,L.
  TITLE     The disorders of the calcium release unit of skeletal muscles: what
            have we learned from mouse models?
  JOURNAL   J Muscle Res Cell Motil 36 (1), 61-69 (2015)
   PUBMED   25424378
  REMARK    Review article
REFERENCE   6  (bases 1 to 2584)
  AUTHORS   Cho,M.C., Rapacciuolo,A., Koch,W.J., Kobayashi,Y., Jones,L.R. and
            Rockman,H.A.
  TITLE     Defective beta-adrenergic receptor signaling precedes the
            development of dilated cardiomyopathy in transgenic mice with
            calsequestrin overexpression
  JOURNAL   J Biol Chem 274 (32), 22251-22256 (1999)
   PUBMED   10428792
REFERENCE   7  (bases 1 to 2584)
  AUTHORS   Eddleston,J., Murdoch,J.N., Copp,A.J. and Stanier,P.
  TITLE     Physical and transcriptional map of a 3-Mb region of mouse
            chromosome 1 containing the gene for the neural tube defect mutant
            loop-tail (Lp)
  JOURNAL   Genomics 56 (2), 149-159 (1999)
   PUBMED   10051400
REFERENCE   8  (bases 1 to 2584)
  AUTHORS   Sato,Y., Ferguson,D.G., Sako,H., Dorn,G.W. 2nd, Kadambi,V.J.,
            Yatani,A., Hoit,B.D., Walsh,R.A. and Kranias,E.G.
  TITLE     Cardiac-specific overexpression of mouse cardiac calsequestrin is
            associated with depressed cardiovascular function and hypertrophy
            in transgenic mice
  JOURNAL   J Biol Chem 273 (43), 28470-28477 (1998)
   PUBMED   9774476
REFERENCE   9  (bases 1 to 2584)
  AUTHORS   Park,K.W., Goo,J.H., Chung,H.S., Kim,H., Kim,D.H. and Park,W.J.
  TITLE     Cloning of the genes encoding mouse cardiac and skeletal
            calsequestrins: expression pattern during embryogenesis
  JOURNAL   Gene 217 (1-2), 25-30 (1998)
   PUBMED   9795116
REFERENCE   10 (bases 1 to 2584)
  AUTHORS   Jones,L.R., Suzuki,Y.J., Wang,W., Kobayashi,Y.M., Ramesh,V.,
            Franzini-Armstrong,C., Cleemann,L. and Morad,M.
  TITLE     Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes
            overexpressing calsequestrin
  JOURNAL   J Clin Invest 101 (7), 1385-1393 (1998)
   PUBMED   9525981
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC166072.2, AI114962.1 and BC092229.1.
            
            On Sep 23, 2017 this sequence version replaced NM_009814.3.
            
            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 :: BC092229.1, AF068244.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849376
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AC166072.2         192671-192710
            41-127              AI114962.1         1-87
            128-2584            BC092229.1         1-2457
FEATURES             Location/Qualifiers
     source          1..2584
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 44.3 cM"
     gene            1..2584
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /note="calsequestrin 2"
                     /db_xref="GeneID:12373"
                     /db_xref="MGI:MGI:1309469"
     exon            1..458
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..1472
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; cardiac calsequestrin"
                     /codon_start=1
                     /product="calsequestrin-2 isoform 2 precursor"
                     /protein_id="NP_033944.2"
                     /db_xref="CCDS:CCDS51023.1"
                     /db_xref="GeneID:12373"
                     /db_xref="MGI:MGI:1309469"
                     /translation="MKRIYLLMVGVYLLSLSGAEEGLNFPTYDGKDRVVSLSEKNLKQ
                     MLKRYDLLCLYYHEPVSSDKVSQKQFQLKEIVLELVAQVLEHKNIGFVMVDSRKEAKL
                     AKRLGFSEEGSLYVLKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIVNNKLEVQAFER
                     IEDQTKLLGFFKNEDSEYYKAFQEAAEHFQPYIKFFATFDKAVAKKLSLKMNEVGFYE
                     PFMDEPNVIPNKPYTEEELVEFVKEHQRPTLRRLRPEDMFETWEDDLNGIHIVAFAEK
                     SDPDGYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEKTFKIDLFKPQIGVV
                     NVTDADSIWMEIPDDDDLPTAEELEDWIEDVLSGKINTEDDDNEDEDDDGDDNDDDDD
                     DDDDNDNSDEDNEDSDDDDDDDE"
     exon            459..543
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            544..644
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            645..756
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            757..830
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            831..961
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1007
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1062
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1163
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1238
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..2556
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2521..2526
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /note="hexamer: AATAAA"
     polyA_site      2556
                     /gene="Casq2"
                     /gene_synonym="cCSQ; Csq2; ESTM52"
                     /note="major polyA site"
ORIGIN      
        1 tgtaaggtat ctagggcttg gcctcccagc ccgtgcctgg ctcttgctct gtgcgcatgt
       61 gtgcatttga gcctccacag tttgttctga gcccacgact acacagctgc aggaccaagg
      121 aggtgaaagc agcctctttg ttccctcacc aacatctcta agaaccttcc atcctgtctt
      181 ccatgatctc tattctggag actgagaagc aagacttttc ccaaatgaag aggatttacc
      241 tgctcatggt gggggtttat ctgctgtccc tgagcggggc agaagagggg ctgaacttcc
      301 ccacgtacga tgggaaagac cgagtggtca gcctttctga gaagaacctc aagcagatgt
      361 tgaagagata tgatttgctc tgtctctatt accacgaacc tgtgtcttca gacaaggtct
      421 cacaaaaaca gttccagctg aaggagattg tactggagct tgtggcccag gtcctggaac
      481 ataaaaacat aggctttgtg atggtggatt cgaggaaaga ggccaagctt gctaagaggc
      541 tgggattcag tgaagaagga agcctgtatg ttctgaaggg tgaccgcacg attgagtttg
      601 acggggagtt cgcagcagat gtcttagtgg aatttctctt ggatctcatt gaagacccag
      661 tggagatcgt gaataacaag ctggaggtcc aggcctttga gcgcatcgag gaccagacca
      721 agctccttgg cttcttcaag aatgaggact cagaatatta caaagcattc caagaggcag
      781 ctgaacactt ccagccttac atcaagttct ttgccacctt tgacaaggcg gtggcaaaga
      841 agttatcctt gaagatgaac gaagttggct tctatgagcc atttatggat gagcccaacg
      901 tcatccctaa caaaccgtac acagaagagg agcttgtgga gtttgtgaag gaacatcaaa
      961 gacccaccct acgtcgcttg cgcccagagg acatgtttga aacatgggaa gacgacttga
     1021 atgggatcca catcgtggcc tttgcggaga agagtgaccc agatggctat gagttcctag
     1081 agatcctgaa acaggttgcc cgggacaaca ctgacaatcc tgacttgagc atcttgtgga
     1141 ttgacccaga tgactttcca ctgcttgttg cttactggga gaagactttc aagattgacc
     1201 tgttcaagcc acagattggg gtggtgaatg taaccgatgc tgacagtatc tggatggaga
     1261 tcccagatga tgacgacctg cccacagctg aggagctgga agactggatt gaagatgtgc
     1321 tttctggaaa gatcaacact gaagatgatg acaatgaaga tgaagatgat gatggtgatg
     1381 acaacgatga cgatgatgat gacgacgatg ataatgataa ttctgatgag gataatgaag
     1441 acagtgatga tgacgatgat gacgatgaat agctccagcc ctgggtgatt ctgatgagtg
     1501 acattacaac caccatgtac catacagaca gcccaagggg gcagcaagca gtggtgccca
     1561 cacctagtca gctcttttcc tttctccagc atctttttct agtctgttct tggcaggagt
     1621 ggtacatttc agtgaatgcc tttccaaacc cagcaggctc acactgcagg gacagaaggg
     1681 gagtgattcc catgctgact acttctaacc attgaggaac aatcagccct tgttctttgc
     1741 tagacaatca ggggtcatgg aattctggga gtctggggac tgtatctcct gacacctcta
     1801 ctcaagttta cttactgtct ttgatccaga tggtgacaga actgacagct tgctattagt
     1861 tcacaagcag ggagtggcct tctaatcaga gtccaggaag ggcacatgat tatccaatct
     1921 cccgccaaac ccagagcatc tgtgaactca gacccaagcc tttggatgtc aattagaaat
     1981 gccttgaaat gtgtgggcat tgccatcatt tctggaatat taggatgatg agtgggggtc
     2041 atctagctct atgaacatcc cattaattgc caagcctcat atattcacca gtggtaagag
     2101 aggctgaagg ataaaaggct tttcattttt ctgatggaga ccgtttaggt ctctgaatgg
     2161 gtctgctggc tgcccagagt gagctgggaa ctgaatgcac cctctctgtc cccgctagtg
     2221 agctgtccca ttctgagtta aaatcgcttt atccactggt caattaactc tccccattca
     2281 tcagcactcc cacagttgac cagggcagcg accattaaga gttcacgatg ccctgaggca
     2341 ccaaggaaaa aaaaagaaaa gaaaagaatc cccaagtgcc ttttgaattg tctgaaagta
     2401 acagtgtgct tggtagtgtt agttgctaag tgtcctaact tatttttgaa atctgttaac
     2461 atggagaaga ctctgtgtgg tgttgttttt gaaactgggg cagtcctttt atggaatagt
     2521 aataaactaa tggacattag actcatgttt tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2581 aaaa
//
