LOCUS       NM_001743               1210 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens calmodulin 2 (CALM2), transcript variant 2, mRNA.
ACCESSION   NM_001743
VERSION     NM_001743.6
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 1210)
  AUTHORS   Yang,J., Li,S., Wang,J., Liu,G., Zhang,C., Li,X. and Liu,X.
  TITLE     Calmodulin 2 expression is associated with poor prognosis in breast
            cancer
  JOURNAL   Pathol Res Pract 258, 155326 (2024)
   PUBMED   38754328
  REMARK    GeneRIF: Calmodulin 2 expression is associated with poor prognosis
            in breast cancer.
REFERENCE   2  (bases 1 to 1210)
  AUTHORS   Lang,Y., Kong,X., Liu,B., Jin,X., Chen,L. and Xu,S.
  TITLE     microRNA-651-5p affects the proliferation, migration, and invasion
            of lung cancer cells by regulating Calmodulin 2 expression
  JOURNAL   Clin Respir J 17 (8), 754-763 (2023)
   PUBMED   37470336
  REMARK    GeneRIF: microRNA-651-5p affects the proliferation, migration, and
            invasion of lung cancer cells by regulating Calmodulin 2
            expression.
REFERENCE   3  (bases 1 to 1210)
  AUTHORS   Makita,N., Yagihara,N., Crotti,L., Johnson,C.N., Beckmann,B.M.,
            Roh,M.S., Shigemizu,D., Lichtner,P., Ishikawa,T., Aiba,T.,
            Homfray,T., Behr,E.R., Klug,D., Denjoy,I., Mastantuono,E.,
            Theisen,D., Tsunoda,T., Satake,W., Toda,T., Nakagawa,H., Tsuji,Y.,
            Tsuchiya,T., Yamamoto,H., Miyamoto,Y., Endo,N., Kimura,A.,
            Ozaki,K., Motomura,H., Suda,K., Tanaka,T., Schwartz,P.J.,
            Meitinger,T., Kaab,S., Guicheney,P., Shimizu,W., Bhuiyan,Z.A.,
            Watanabe,H., Chazin,W.J. and George,A.L. Jr.
  TITLE     Novel calmodulin mutations associated with congenital arrhythmia
            susceptibility
  JOURNAL   Circ Cardiovasc Genet 7 (4), 466-474 (2014)
   PUBMED   24917665
  REMARK    GeneRIF: 5 novel de novo CALM2 mutations in association with
            long-QT syndrome and exertioninduced arrhythmias.(p.N98S, p.N98I,
            p.D134H, p.D132E, p.Q136P)
REFERENCE   4  (bases 1 to 1210)
  AUTHORS   Nyegaard,M., Overgaard,M.T., Sondergaard,M.T., Vranas,M.,
            Behr,E.R., Hildebrandt,L.L., Lund,J., Hedley,P.L., Camm,A.J.,
            Wettrell,G., Fosdal,I., Christiansen,M. and Borglum,A.D.
  TITLE     Mutations in calmodulin cause ventricular tachycardia and sudden
            cardiac death
  JOURNAL   Am J Hum Genet 91 (4), 703-712 (2012)
   PUBMED   23040497
REFERENCE   5  (bases 1 to 1210)
  AUTHORS   Toutenhoofd,S.L., Foletti,D., Wicki,R., Rhyner,J.A., Garcia,F.,
            Tolon,R. and Strehler,E.E.
  TITLE     Characterization of the human CALM2 calmodulin gene and comparison
            of the transcriptional activity of CALM1, CALM2 and CALM3
  JOURNAL   Cell Calcium 23 (5), 323-338 (1998)
   PUBMED   9681195
REFERENCE   6  (bases 1 to 1210)
  AUTHORS   Berchtold,M.W., Egli,R., Rhyner,J.A., Hameister,H. and
            Strehler,E.E.
  TITLE     Localization of the human bona fide calmodulin genes CALM1, CALM2,
            and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3
  JOURNAL   Genomics 16 (2), 461-465 (1993)
   PUBMED   8314583
REFERENCE   7  (bases 1 to 1210)
  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
REFERENCE   8  (bases 1 to 1210)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
REFERENCE   9  (bases 1 to 1210)
  AUTHORS   Koller,M., Schnyder,B. and Strehler,E.E.
  TITLE     Structural organization of the human CaMIII calmodulin gene
  JOURNAL   Biochim Biophys Acta 1087 (2), 180-189 (1990)
   PUBMED   2223880
REFERENCE   10 (bases 1 to 1210)
  AUTHORS   SenGupta,B., Friedberg,F. and Detera-Wadleigh,S.D.
  TITLE     Molecular analysis of human and rat calmodulin complementary DNA
            clones. Evidence for additional active genes in these species
  JOURNAL   J Biol Chem 262 (34), 16663-16670 (1987)
   PUBMED   2445749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017385.1 and AI873701.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001743.5.
            
            Summary: This gene is a member of the calmodulin gene family. There
            are three distinct calmodulin genes dispersed throughout the genome
            that encode the identical protein, but differ at the nucleotide
            level. Calmodulin is a calcium binding protein that plays a role in
            signaling pathways, cell cycle progression and proliferation.
            Several infants with severe forms of long-QT syndrome (LQTS) who
            displayed life-threatening ventricular arrhythmias together with
            delayed neurodevelopment and epilepsy were found to have mutations
            in either this gene or another member of the calmodulin gene family
            (PMID:23388215). Mutations in this gene have also been identified
            in patients with less severe forms of LQTS (PMID:24917665), while
            mutations in another calmodulin gene family member have been
            associated with catecholaminergic polymorphic ventricular
            tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be
            the cause of a significant fraction of sudden cardiac deaths in
            young individuals. Pseudogenes of this gene are found on
            chromosomes 10, 13, and 17. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' coding
            region, and uses an alternate start codon compared to variant 1.
            The encoded isoform (2) has a shorter N-terminus compared to
            isoform 1, and is the same protein encoded by other calmodulin gene
            family members.
            
            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 :: SRR3476690.1068523.1,
                                           SRR5189652.152363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272298.12/ ENSP00000272298.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1129              BC017385.1         5-1133
            1130-1210           AI873701.1         10-90               c
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..1210
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /note="calmodulin 2"
                     /db_xref="GeneID:805"
                     /db_xref="HGNC:HGNC:1445"
                     /db_xref="MIM:114182"
     exon            1..71
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..518
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /EC_number="2.7.11.19"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphorylase kinase delta; LP7057 protein;
                     prepro-calmodulin 2; calmodulin 2 (phosphorylase kinase,
                     delta); phosphorylase kinase subunit delta; Calmodulin-1;
                     Calmodulin-3; phosphorylase kinase subunit delta 2"
                     /codon_start=1
                     /product="calmodulin-2 isoform 2"
                     /protein_id="NP_001734.1"
                     /db_xref="CCDS:CCDS1832.1"
                     /db_xref="GeneID:805"
                     /db_xref="HGNC:HGNC:1445"
                     /db_xref="MIM:114182"
                     /translation="MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNP
                     TEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYIS
                     AAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK"
     exon            72..102
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            103..246
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            247..353
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            354..489
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            490..1210
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1106..1111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /note="hexamer: AATAAA"
     polyA_site      1130
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /note="major polyA site"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
                     /note="hexamer: AATAAA"
     polyA_site      1210
                     /gene="CALM2"
                     /gene_synonym="CALM; CALML2; caM; CAM1; CAM3; CAMC; CAMII;
                     CAMIII; LQT15; PHKD; PHKD2"
ORIGIN      
        1 agtccgagtg gagagagcga gctgagtggt tgtgtggtcg cgtctcggaa accggtagcg
       61 cttgcagcat ggctgaccaa ctgactgaag agcagattgc agaattcaaa gaagcttttt
      121 cactatttga caaagatggt gatggaacta taacaacaaa ggaattggga actgtaatga
      181 gatctcttgg gcagaatccc acagaagcag agttacagga catgattaat gaagtagatg
      241 ctgatggtaa tggcacaatt gacttccctg aatttctgac aatgatggca agaaaaatga
      301 aagacacaga cagtgaagaa gaaattagag aagcattccg tgtgtttgat aaggatggca
      361 atggctatat tagtgctgca gaacttcgcc atgtgatgac aaaccttgga gagaagttaa
      421 cagatgaaga agttgatgaa atgatcaggg aagcagatat tgatggtgat ggtcaagtaa
      481 actatgaaga gtttgtacaa atgatgacag caaagtgaag accttgtaca gaatgtgtta
      541 aatttcttgt acaaaattgt ttatttgcct tttctttgtt tgtaacttat ctgtaaaagg
      601 tttctcccta ctgtcaaaaa aatatgcatg tatagtaatt aggacttcat tcctccatgt
      661 tttcttccct tatcttactg tcattgtcct aaaaccttat tttagaaaat tgatcaagta
      721 acatgttgca tgtggcttac tctggatata tctaagccct tctgcacatc taaacttaga
      781 tggagttggt caaatgaggg aacatctggg ttatgccttt tttaaagtag ttttctttag
      841 gaactgtcag catgttgttg ttgaagtgtg gagttgtaac tctgcgtgga ctatggacag
      901 tcaacaatat gtacttaaaa gttgcactat tgcaaaacgg gtgtattatc caggtactcg
      961 tacactattt ttttgtactg ctggtcctgt accagaaaca ttttctttta ttgttacttg
     1021 ctttttaaac tttgtttagc cacttaaaat ctgcttatgg cacaatttgc ctcaaaatcc
     1081 attccaagtt gtatatttgt tttccaataa aaaaattaca atttacccaa tggttgctct
     1141 gcatctgagt catttaactg ttgaagtcta ataattttga aaataaaata tggcattggt
     1201 ttctgcttgg
//
