LOCUS       NM_016599               2549 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens myozenin 2 (MYOZ2), mRNA.
ACCESSION   NM_016599
VERSION     NM_016599.5
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 2549)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2549)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2549)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2549)
  AUTHORS   Posch,M.G., Perrot,A., Dietz,R., Ozcelik,C., Pankuweit,S.,
            Ruppert,V., Richter,A. and Maisch,B.
  TITLE     Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not
            associated with idiopathic and familial dilated cardiomyopathy
  JOURNAL   Mol Genet Metab 91 (2), 207-208 (2007)
   PUBMED   17434779
  REMARK    GeneRIF: Mutations in MYOZ1 and MYOZ2 are at least very rare events
            as an underlying disease mechanism for idiopathic or familial DCM
REFERENCE   5  (bases 1 to 2549)
  AUTHORS   Frey,N. and Olson,E.N.
  TITLE     Calsarcin-3, a novel skeletal muscle-specific member of the
            calsarcin family, interacts with multiple Z-disc proteins
  JOURNAL   J Biol Chem 277 (16), 13998-14004 (2002)
   PUBMED   11842093
REFERENCE   6  (bases 1 to 2549)
  AUTHORS   Takada,F., Vander Woude,D.L., Tong,H.Q., Thompson,T.G.,
            Watkins,S.C., Kunkel,L.M. and Beggs,A.H.
  TITLE     Myozenin: an alpha-actinin- and gamma-filamin-binding protein of
            skeletal muscle Z lines
  JOURNAL   Proc Natl Acad Sci U S A 98 (4), 1595-1600 (2001)
   PUBMED   11171996
REFERENCE   7  (bases 1 to 2549)
  AUTHORS   Frey,N., Richardson,J.A. and Olson,E.N.
  TITLE     Calsarcins, a novel family of sarcomeric calcineurin-binding
            proteins
  JOURNAL   Proc Natl Acad Sci U S A 97 (26), 14632-14637 (2000)
   PUBMED   11114196
REFERENCE   8  (bases 1 to 2549)
  AUTHORS   Ahmad,F., Gonzalez,O., Ramagli,L., Xu,J., Siciliano,M.J.,
            Bachinski,L.L. and Roberts,R.
  TITLE     Identification and characterization of a novel gene (C4orf5)
            located on human chromosome 4q with specific expression in cardiac
            and skeletal muscle
  JOURNAL   Genomics 70 (3), 347-353 (2000)
   PUBMED   11161785
REFERENCE   9  (bases 1 to 2549)
  AUTHORS   Faulkner,G., Pallavicini,A., Formentin,E., Comelli,A.,
            Ievolella,C., Trevisan,S., Bortoletto,G., Scannapieco,P.,
            Salamon,M., Mouly,V., Valle,G. and Lanfranchi,G.
  TITLE     ZASP: a new Z-band alternatively spliced PDZ-motif protein
  JOURNAL   J Cell Biol 146 (2), 465-475 (1999)
   PUBMED   10427098
REFERENCE   10 (bases 1 to 2549)
  AUTHORS   Cirino,A.L. and Ho,C.
  TITLE     Hypertrophic Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301725
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP370492.1, BC020932.1,
            AC092656.1 and BM091578.1.
            
            On Sep 24, 2019 this sequence version replaced NM_016599.4.
            
            Summary: The protein encoded by this gene belongs to a family of
            sarcomeric proteins that bind to calcineurin, a phosphatase
            involved in calcium-dependent signal transduction in diverse cell
            types. These family members tether calcineurin to alpha-actinin at
            the z-line of the sarcomere of cardiac and skeletal muscle cells,
            and thus they are important for calcineurin signaling. Mutations in
            this gene cause cardiomyopathy familial hypertrophic type 16, a
            hereditary heart disorder. [provided by RefSeq, Aug 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AY013295.1, AJ252149.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307128.6/ ENSP00000306997.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                BP370492.1         49-126
            79-1149             BC020932.1         1-1071
            1150-2538           AC092656.1         171804-173192       c
            2539-2549           BM091578.1         8-18                c
FEATURES             Location/Qualifiers
     source          1..2549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..2549
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /note="myozenin 2"
                     /db_xref="GeneID:51778"
                     /db_xref="HGNC:HGNC:1330"
                     /db_xref="MIM:605602"
     exon            1..151
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     exon            152..241
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..960
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /note="calcineurin-binding protein calsarcin-1;
                     muscle-specific protein; FATZ-related protein 2"
                     /codon_start=1
                     /product="myozenin-2"
                     /protein_id="NP_057683.1"
                     /db_xref="CCDS:CCDS3711.1"
                     /db_xref="GeneID:51778"
                     /db_xref="HGNC:HGNC:1330"
                     /db_xref="MIM:605602"
                     /translation="MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIML
                     EELSHLSNRGARLFKMRQRRSDKYTFENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQ
                     QAPLTPPNTPDPRSPPNPDNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDP
                     ELLEALYPKLFKPEGKAELPDYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPR
                     FMSFVNPLSGRRSFNRTPKGWISENIPIVITTEPTDDTTVPESEDL"
     exon            242..411
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     exon            412..541
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     exon            542..725
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     exon            726..2549
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1121..1126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /note="hexamer: AATAAA"
     polyA_site      1151
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /note="major polyA site"
     regulatory      2522..2527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
                     /note="hexamer: AATAAA"
     polyA_site      2549
                     /gene="MYOZ2"
                     /gene_synonym="C4orf5; CMH16; CS-1; FATZ-2"
ORIGIN      
        1 agtccccagt ttgagtcaga gtagggacca tgctgtccca ggttcaagga taaaaaccat
       61 caggcccaag tgccatccat agtccatctc cagagtcttc ctccacaaac tgggattcat
      121 ccccgctgaa aaagcacaat ctaacagcaa gggaacaaaa aaaccatgct atcacataat
      181 actatgatga agcagagaaa acagcaagca acagccatca tgaaggaagt ccatggaaat
      241 gatgttgatg gcatggacct gggcaaaaag gtcagcatcc ccagagacat catgttggaa
      301 gaattatccc atctcagtaa ccgtggtgcc aggctattta agatgcgtca aagaagatct
      361 gacaaataca catttgaaaa tttccagtat caatctagag cacaaataaa tcacagtatt
      421 gctatgcaga atgggaaagt ggatggaagt aacttggaag gtggttcgca gcaagccccc
      481 ttgactcctc ccaacacccc agatccacga agccctccaa atccagacaa cattgctcca
      541 ggatattctg gaccactgaa ggaaattcct cctgaaaaat tcaacaccac agctgtccct
      601 aagtactatc aatctccctg ggaacaagcc attagcaatg atccggagct tttagaggct
      661 ttatatccta aacttttcaa gcctgaagga aaggcagaac tgcctgatta caggagcttt
      721 aacagggttg ccacaccatt tggaggtttt gaaaaagcat caagaatggt taaatttaaa
      781 gttccagatt ttgagctact attgctaaca gatcccaggt ttatgtcctt tgtcaatccc
      841 ctttctggca gacggtcctt taataggact cctaagggat ggatatctga gaatattcct
      901 atagtgataa caaccgaacc tacagatgat accactgtac cagaatcaga agacctatga
      961 aaagaaagtt gtatgtgcca cataaaactc tgaatataaa agttgctgtt ctactatttt
     1021 aactactggc aaagccactt gcatttttca ttagtagcaa caatagcaat ttagtgattt
     1081 tccttttctg acattcaatt tcaatctcag atcaaatact aataaacaat tagaaatctt
     1141 actttaaaaa acttataact cacttgtctt cattcataat tttgttttca cctggtttaa
     1201 agaatccaga tattttactg caaaagttca gatggaaaag taattgacag tttcaccttt
     1261 gtctcatttt atatgattta ttacagtgta agtttttcaa gtggaatcta gaatcaaaat
     1321 acagggagag atatgaagac ctattcagag tttcatctgg ggatgaaagc tatggaagat
     1381 gatgtacaaa tgttattgat ggagaaaatg gttgggtgtg tcctttctgg tgaccatgag
     1441 aaaataatat gtcttgatga agtcttttca ttagtcactc ttagaattct aaagtgcttt
     1501 gcacttttca atatgttttg aatcattagg taatttattc tggatgatat tctccaaaat
     1561 tcaattcagt tattatattc atttagcatt aagtcaagga gactgagaat gactcaaggg
     1621 acgtcatagt accatagttt taaggaccaa ggtgtgccca gaattcaagt ttcacaaatc
     1681 ccaatgctgt gcattgatta tgttcaactt tatgtgtgca ttcttagaag agtaagaaca
     1741 aataaagtac accgtaatat acatataaat acattcatgt ttgtgagaga aggaaagagt
     1801 aagtaatttg aattggcagc tttctttgct aaatctttaa attctgttaa gatcctcaag
     1861 taactgggga gtacatgctt taggacacaa acaaaaacaa agggcatgaa agtatctgaa
     1921 agcaatgtag cacatatcta tcgtaatata tgtaatatat tgacataaaa gacacaaact
     1981 aatataaagt tatagttata tcttaaaata taattgaaga agcatatgac atataactta
     2041 tagaaatcag tatcaattcc tcccatttca attcagttaa gacttctgtg atagatgttt
     2101 atagcagaga agaaatgtct catcaataga aaactatcag ataaagttta ggagatagga
     2161 agaaggactg tgtgtagtaa tgaaaatacc aagttgcaac attacatgtt tacaaaaaaa
     2221 aatctgtgtt tgtagtgtgg aagttggtga ctgttttaat catcatctag acttgttaag
     2281 tagaaaaatt ttaaaaattt gcttatgaaa atataacccc cagaaagtaa caatgacaaa
     2341 gtattatatt tatatatatt attgtagaga atttgtatat ttttaaagat gtcttaagat
     2401 atcttaattt tatttataag ttttggtgtt tacctgtttt aaaatgataa tgttggcatc
     2461 tgtgataaac tatcaatgag gctcccatca tgccattttt tgttcatttt aatctttaaa
     2521 aaataaaaat taggcatatt aattatgca
//
