LOCUS       NM_001232               2593 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens calsequestrin 2 (CASQ2), mRNA.
ACCESSION   NM_001232
VERSION     NM_001232.4
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 2593)
  AUTHORS   d'Apolito,M., Santoro,F., Ranaldi,A., Ragnatela,I., Colia,A.L.,
            Cannito,S., Margaglione,A., D'Arienzo,G., D'Andrea,G.,
            Pellegrino,P., Santacroce,R., Brunetti,N.D. and Margaglione,M.
  TITLE     Investigation of a Large Kindred Reveals Cardiac Calsequestrin
            (CASQ2) as a Cause of Brugada Syndrome
  JOURNAL   Genes (Basel) 15 (7), 822 (2024)
   PUBMED   39062601
  REMARK    GeneRIF: Investigation of a Large Kindred Reveals Cardiac
            Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2593)
  AUTHORS   Rosamilia,M.B., Lu,I.M. and Landstrom,A.P.
  TITLE     Pathogenicity Assignment of Variants in Genes Associated With
            Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty
  JOURNAL   Circ Genom Precis Med 15 (3), e003491 (2022)
   PUBMED   35543671
REFERENCE   3  (bases 1 to 2593)
  AUTHORS   Afanas'ev,S.A., Kondrat'eva,D.S., Muslimova,E.F., Budnikova
            capital,O. CyrillicV, Akhmedov,S.D. and Kozlov,B.N.
  TITLE     Expression of Genes and Proteins of the Sarcoplasmic Reticulum
            capital ES, Cyrillicsmall a, Cyrillic2+-Transport Systems in
            Cardiomyocytes in Concomitant Coronary Heart Disease and Type 2
            Diabetes Mellitus
  JOURNAL   Bull Exp Biol Med 172 (2), 117-120 (2021)
   PUBMED   34855078
REFERENCE   4  (bases 1 to 2593)
  AUTHORS   Zhang,X., Wei,X., Bai,G., Huang,X., Hu,S., Mao,H. and Liu,P.
  TITLE     Identification of Three Potential Prognostic Genes in
            Platinum-Resistant Ovarian Cancer via Integrated Bioinformatics
            Analysis
  JOURNAL   Cancer Manag Res 13, 8629-8646 (2021)
   PUBMED   34824550
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2593)
  AUTHORS   Reyes-Juarez,J.L., Juarez-Rubi,R., Rodriguez,G. and
            Zarain-Herzberg,A.
  TITLE     Transcriptional analysis of the human cardiac calsequestrin gene in
            cardiac and skeletal myocytes
  JOURNAL   J Biol Chem 282 (49), 35554-35563 (2007)
   PUBMED   17938175
REFERENCE   6  (bases 1 to 2593)
  AUTHORS   Kirchhefer,U., Neumann,J., Baba,H.A., Begrow,F., Kobayashi,Y.M.,
            Reinke,U., Schmitz,W. and Jones,L.R.
  TITLE     Cardiac hypertrophy and impaired relaxation in transgenic mice
            overexpressing triadin 1
  JOURNAL   J Biol Chem 276 (6), 4142-4149 (2001)
   PUBMED   11069905
REFERENCE   7  (bases 1 to 2593)
  AUTHORS   Kobayashi,Y.M., Alseikhan,B.A. and Jones,L.R.
  TITLE     Localization and characterization of the calsequestrin-binding
            domain of triadin 1. Evidence for a charged beta-strand in
            mediating the protein-protein interaction
  JOURNAL   J Biol Chem 275 (23), 17639-17646 (2000)
   PUBMED   10748065
REFERENCE   8  (bases 1 to 2593)
  AUTHORS   Froemming,G.R., Murray,B.E., Harmon,S., Pette,D. and Ohlendieck,K.
  TITLE     Comparative analysis of the isoform expression pattern of
            Ca(2+)-regulatory membrane proteins in fast-twitch, slow-twitch,
            cardiac, neonatal and chronic low-frequency stimulated muscle
            fibers
  JOURNAL   Biochim Biophys Acta 1466 (1-2), 151-168 (2000)
   PUBMED   10825439
REFERENCE   9  (bases 1 to 2593)
  AUTHORS   Otsu,K., Fujii,J., Periasamy,M., Difilippantonio,M., Uppender,M.,
            Ward,D.C. and MacLennan,D.H.
  TITLE     Chromosome mapping of five human cardiac and skeletal muscle
            sarcoplasmic reticulum protein genes
  JOURNAL   Genomics 17 (2), 507-509 (1993)
   PUBMED   8406504
REFERENCE   10 (bases 1 to 2593)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC423064.1, AL449264.18,
            D55655.1 and BM679349.1.
            
            On Feb 25, 2020 this sequence version replaced NM_001232.3.
            
            Summary: The protein encoded by this gene specifies the cardiac
            muscle family member of the calsequestrin family. Calsequestrin is
            localized to the sarcoplasmic reticulum in cardiac and slow
            skeletal muscle cells. The protein is a calcium binding protein
            that stores calcium for muscle function. Mutations in this gene
            cause stress-induced polymorphic ventricular tachycardia, also
            referred to as catecholaminergic polymorphic ventricular
            tachycardia 2 (CPVT2), a disease characterized by bidirectional
            ventricular tachycardia that may lead to cardiac arrest. [provided
            by RefSeq, Jul 2008].
            
            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 :: BC022288.1, AK129891.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000261448.6/
                                                  ENSP00000261448.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-137               DC423064.1         92-228
            138-138             AL449264.18        35104-35104         c
            139-373             DC423064.1         230-464
            374-2521            D55655.1           310-2457
            2522-2593           BM679349.1         33-104              c
FEATURES             Location/Qualifiers
     source          1..2593
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     gene            1..2593
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /note="calsequestrin 2"
                     /db_xref="GeneID:845"
                     /db_xref="HGNC:HGNC:1513"
                     /db_xref="MIM:114251"
     exon            1..407
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..1373
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /note="calsequestrin 2, fast-twitch, cardiac muscle;
                     calsequestrin 2 (cardiac muscle)"
                     /codon_start=1
                     /product="calsequestrin-2 precursor"
                     /protein_id="NP_001223.2"
                     /db_xref="CCDS:CCDS884.1"
                     /db_xref="GeneID:845"
                     /db_xref="HGNC:HGNC:1513"
                     /db_xref="MIM:114251"
                     /translation="MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQ
                     VLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKL
                     AKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFER
                     IEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYE
                     PFMDEPIAIPNKPYTEEELVEFVKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEK
                     SDPDGYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVV
                     NVTDADSVWMEIPDDDDLPTAEELEDWIEDVLSGKINTEDDDEDDDDDDNSDEEDNDD
                     SDDDDDE"
     exon            408..492
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            493..593
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            594..705
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..779
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            780..910
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            911..956
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1011
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1112
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1187
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..2593
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2571..2576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /note="hexamer: ATTAAA"
     polyA_site      2593
                     /gene="CASQ2"
                     /gene_synonym="PDIB2"
                     /note="major polyA site"
ORIGIN      
        1 agagctggct ggacccaagg aggtgaagag tcacttttca gccccaggaa gggcaaagaa
       61 gagagaaaat cagcctgtct gctctctcct tggctcaaca aggcctctaa cagtcttctg
      121 tcctctattc tgcacacagc atatttggga acgagaaaca aaagttttcc caaatgaaga
      181 gaactcactt gtttattgtg gggatttatt ttctgtcctc ttgcagggca gaagaggggc
      241 ttaatttccc cacatatgat gggaaggacc gagtggtaag tctttccgag aagaacttca
      301 agcaggtttt aaagaaatat gacttgcttt gcctctacta ccatgagccg gtgtcttcag
      361 ataaggtcac gcaaaaacag ttccaactga aagaaatcgt gcttgagctt gtggcccagg
      421 tccttgaaca taaagctata ggctttgtga tggtggatgc caagaaagaa gccaagcttg
      481 ccaagaaact gggttttgat gaagaaggaa gcctgtatat tcttaagggt gatcgcacaa
      541 tagagtttga tggcgagttt gcagctgatg tcttggtgga gttcctcttg gatctaattg
      601 aagacccagt ggagatcatc agcagcaaac tggaagtcca agccttcgaa cgcattgaag
      661 actacatcaa actcattggc tttttcaaga gtgaggactc agaatactac aaggcttttg
      721 aagaagcagc tgaacacttc cagccttaca tcaaattctt tgccaccttt gacaaagggg
      781 ttgcaaagaa attatctttg aagatgaatg aggttgactt ctatgagcca tttatggatg
      841 agcccattgc catccccaac aaaccttaca cagaagagga gctggtggag tttgtgaagg
      901 aacaccaaag acccactcta cgtcgcctgc gcccagaaga aatgtttgaa acatgggaag
      961 atgatttgaa tgggatccac attgtggcct ttgcagagaa gagtgatcca gatggctacg
     1021 aattcctgga gatcctgaaa caggttgccc gggacaatac tgacaacccc gatctgagca
     1081 tcctgtggat cgacccggac gactttcctc tgctcgttgc ctactgggag aagactttca
     1141 agattgacct attcaggcca cagattgggg tggtgaatgt cacagatgct gacagtgtct
     1201 ggatggagat tccagatgat gacgatcttc caactgctga ggagctggag gactggattg
     1261 aggatgtgct ttctggaaag ataaacactg aagatgatga tgaagatgat gatgatgatg
     1321 ataattctga tgaagaggat aatgatgaca gtgatgacga tgatgatgaa tagcccaact
     1381 ccaaacaatt ctgatgaaaa caaaatcaca gcacccacta ccatacagac agcacaaggt
     1441 ggcagcaagc aattctgccc cacacccagc cagctccttt cccttttcca tcatctcttt
     1501 tcccactccc tttgcgtcag gagcagcatc attcagcaaa tgccttttca aatgcagcaa
     1561 tcccacttag cagggacagg agaaaaatta ttcccatgtt gactgtcttg actgtcacgg
     1621 aacagatctt gttctttgct ggaccatcaa gggtcatggc agtgcctgaa catggcagtc
     1681 tagggtgaac aatcccctaa cacaagttta cttgtctttg attatgacag taacaaaatt
     1741 gacagctttc taactcacag gcatagagtg accttttaat cagagcccag ggaagacaca
     1801 tgattaatga tttagctccc tccatacctc gaacatcagt tgggatccct cctccagcca
     1861 agatgatcct tcttagagaa ggctcagcct tggaagcaaa cttataaatc atattctcat
     1921 ggctttgtta aacttatttc aagtgatggt cattcatatc actatgaact tggatattca
     1981 agcctttgga tggctatgga gagggcttga aatgtgtaca ggtgtcacca tcatttctag
     2041 tatattagga aactgggatg ggaggttgat ttgctctcta aacttccctc tagttggcaa
     2101 gtctcacata ttcatcagca ggagtggagg gtgggggaaa actagaaaga tgaaaacttt
     2161 tacatttttc tgatgggttc atgtctctga ttgggtcagc tggcttccta gcctaagctg
     2221 ggatctgaat accccttctc tgtagctgct agtgagcctt cccatttaga ttaaagattg
     2281 ctttatccag cagtcaatta actctccagt tatcagtact cccacaattg gccagggcaa
     2341 caataattgg agttcatact gatgccctga ggcactgaaa aaaaaaaaaa tcccaaagtg
     2401 ccttctgagc tgtctaaaag ttacattgtg cttggtagat ttagtgttaa gtgtgcagta
     2461 taattttcta atttattttc tcaatctttt agcacatgtg taagacactg tgcaaatttt
     2521 ttgaaaatag agcaatactt tttgtggaat actagctaac taattctgtc attaaactca
     2581 tattttgaaa ata
//
