LOCUS       NM_000432                783 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens myosin light chain 2 (MYL2), transcript variant 1,
            mRNA.
ACCESSION   NM_000432
VERSION     NM_000432.4
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 783)
  AUTHORS   Dong,Y., Wang,J., Yang,C., Bao,J., Liu,X., Chen,H., Zhang,X.,
            Shi,W., Zhang,L., Qi,Q., Li,Y., Wang,S., Ma,R., Cong,B. and
            Zhang,G.
  TITLE     Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery
            Spasm-Induced Sudden Cardiac Death
  JOURNAL   Int J Mol Sci 25 (5), 2941 (2024)
   PUBMED   38474189
  REMARK    GeneRIF: Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary
            Artery Spasm-Induced Sudden Cardiac Death.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 783)
  AUTHORS   Tsuji-Tamura,K. and Ogawa,M.
  TITLE     FOXO1 promotes endothelial cell elongation and angiogenesis by
            up-regulating the phosphorylation of myosin light chain 2
  JOURNAL   Angiogenesis 26 (4), 523-545 (2023)
   PUBMED   37488325
  REMARK    GeneRIF: FOXO1 promotes endothelial cell elongation and
            angiogenesis by up-regulating the phosphorylation of myosin light
            chain 2.
REFERENCE   3  (bases 1 to 783)
  AUTHORS   Yuan,C.C., Kazmierczak,K., Liang,J., Ma,W., Irving,T.C. and
            Szczesna-Cordary,D.
  TITLE     Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice:
            Role of the super-relaxed state of myosin
  JOURNAL   Proc Natl Acad Sci U S A 119 (8) (2022)
   PUBMED   35177471
  REMARK    GeneRIF: Molecular basis of force-pCa relation in MYL2
            cardiomyopathy mice: Role of the super-relaxed state of myosin.
REFERENCE   4  (bases 1 to 783)
  AUTHORS   Chao,F., Song,Z., Wang,S., Ma,Z., Zhuo,Z., Meng,T., Xu,G. and
            Chen,G.
  TITLE     Novel circular RNA circSOBP governs amoeboid migration through the
            regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer
  JOURNAL   Clin Transl Med 11 (3), e360 (2021)
   PUBMED   33784000
  REMARK    GeneRIF: Novel circular RNA circSOBP governs amoeboid migration
            through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in
            prostate cancer.
REFERENCE   5  (bases 1 to 783)
  AUTHORS   Manivannan,S.N., Darouich,S., Masmoudi,A., Gordon,D., Zender,G.,
            Han,Z., Fitzgerald-Butt,S., White,P., McBride,K.L., Kharrat,M. and
            Garg,V.
  TITLE     Novel frameshift variant in MYL2 reveals molecular differences
            between dominant and recessive forms of hypertrophic cardiomyopathy
  JOURNAL   PLoS Genet 16 (5), e1008639 (2020)
   PUBMED   32453731
  REMARK    GeneRIF: An autosomal recessive model of inheritance for MYL2
            loss-of-function variants in infantile Hypertrophic cardiomyopathy
            highlights the variant-specific molecular differences found in
            MYL2-associated cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 783)
  AUTHORS   Kovalyov,L.I., Shishkin,S.S., Efimochkin,A.S., Kovalyova,M.A.,
            Ershova,E.S., Egorov,T.A. and Musalyamov,A.K.
  TITLE     The major protein expression profile and two-dimensional protein
            database of human heart
  JOURNAL   Electrophoresis 16 (7), 1160-1169 (1995)
   PUBMED   7498159
REFERENCE   7  (bases 1 to 783)
  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
REFERENCE   8  (bases 1 to 783)
  AUTHORS   Wadgaonkar,R., Shafiq,S., Rajmanickam,C. and Siddiqui,M.A.
  TITLE     Interaction of a conserved peptide domain in recombinant human
            ventricular myosin light chain-2 with myosin heavy chain
  JOURNAL   Cell Mol Biol Res 39 (1), 13-26 (1993)
   PUBMED   8287067
REFERENCE   9  (bases 1 to 783)
  AUTHORS   Macera,M.J., Szabo,P., Wadgaonkar,R., Siddiqui,M.A. and Verma,R.S.
  TITLE     Localization of the gene coding for ventricular myosin regulatory
            light chain (MYL2) to human chromosome 12q23-q24.3
  JOURNAL   Genomics 13 (3), 829-831 (1992)
   PUBMED   1386340
REFERENCE   10 (bases 1 to 783)
  AUTHORS   Dalla Libera,L., Hoffmann,E., Floroff,M. and Jackowski,G.
  TITLE     Isolation and nucleotide sequence of the cDNA encoding human
            ventricular myosin light chain 2
  JOURNAL   Nucleic Acids Res 17 (6), 2360 (1989)
   PUBMED   2704627
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015821.1.
            
            On Nov 30, 2019 this sequence version replaced NM_000432.3.
            
            Summary: This gene encodes a major sarcomeric protein in mammalian
            striated muscle. The encoded protein plays a role in embryonic
            heart muscle structure and function, while phosphorylation of the
            encoded protein is involved in cardiac myosin cycling kinetics,
            torsion and function in adults. Mutations in this gene are
            associated with hypertrophic cardiomyopathy 10 and infant-onset
            myopathy. [provided by RefSeq, May 2022].
            
            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 :: BC031008.1, BU193625.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228841.15/ ENSP00000228841.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-783               BC015821.1         4-786
FEATURES             Location/Qualifiers
     source          1..783
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..783
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /note="myosin light chain 2"
                     /db_xref="GeneID:4633"
                     /db_xref="HGNC:HGNC:7583"
                     /db_xref="MIM:160781"
     exon            1..53
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..551
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myosin, light polypeptide 2, regulatory, cardiac, slow;
                     slow cardiac myosin regulatory light chain 2; T160D myosin
                     regulatory light chain 2; cardiac ventricular myosin light
                     chain 2; regulatory light chain of myosin; RLC of myosin;
                     cardiac myosin light chain 2; myosin, light chain 2,
                     regulatory, cardiac, slow; S15D myosin regulatory light
                     chain 2"
                     /codon_start=1
                     /product="myosin regulatory light chain 2,
                     ventricular/cardiac muscle isoform isoform 1"
                     /protein_id="NP_000423.2"
                     /db_xref="CCDS:CCDS31901.1"
                     /db_xref="GeneID:4633"
                     /db_xref="HGNC:HGNC:7583"
                     /db_xref="MIM:160781"
                     /translation="MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFI
                     DKNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNA
                     FKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIIT
                     HGEEKD"
     exon            54..143
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            144..219
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            220..324
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            325..403
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            404..452
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            453..783
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      764..769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /note="hexamer: AATAAA"
     polyA_site      783
                     /gene="MYL2"
                     /gene_synonym="CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v;
                     MLC2"
                     /note="major polyA site"
ORIGIN      
        1 gggcggagtg tggaattctt ctcgggaggc agtgctgggt cctttccacc atggcaccta
       61 agaaagcaaa gaagagagcc gggggcgcca actccaacgt gttctccatg ttcgaacaga
      121 cccaaatcca ggaatttaag gaggccttca ctatcatgga ccagaacagg gatggcttca
      181 ttgacaagaa cgatctgaga gacacctttg ctgcccttgg gcgagtgaac gtgaaaaatg
      241 aagaaattga tgaaatgatc aaggaggctc cgggtccaat taactttact gtgttcctca
      301 caatgtttgg ggagaaactt aagggagcgg accctgagga aaccattctc aacgcattca
      361 aagtgtttga ccctgaaggc aaaggggtgc tgaaggctga ttacgttcgg gaaatgctga
      421 ccacgcaggc ggagaggttt tccaaggagg aggttgacca gatgttcgcc gccttccccc
      481 ctgacgtgac tggcaacttg gactacaaga acctggtgca catcatcacc cacggagaag
      541 agaaggacta ggagggggct cgctgctgcg ccctgggctc gtctttgcag agtggtccct
      601 gccctcatct ctctcccccg agtaccgcct ctgtccctac cttgtctgtt agccatgtgg
      661 ctgccccatt tatccacctc catcttcttt gcagcctggg tggctatggg tacttcgtgg
      721 ccgcacatcc tacagttgga aatccatcca gaggccatgt tccaataaac aggaggtcgt
      781 gta
//
