LOCUS       NM_207163               2287 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens leiomodin 2 (LMOD2), mRNA.
ACCESSION   NM_207163 XM_371949 XM_499467 XM_937717
VERSION     NM_207163.3
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 2287)
  AUTHORS   Pappas,C.T., Mayfield,R.M., Dickerson,A.E., Mi-Mi,L. and
            Gregorio,C.C.
  TITLE     Human disease-causing mutations result in loss of leiomodin 2
            through nonsense-mediated mRNA decay
  JOURNAL   PLoS Genet 20 (5), e1011279 (2024)
   PUBMED   38748723
  REMARK    GeneRIF: Human disease-causing mutations result in loss of
            leiomodin 2 through nonsense-mediated mRNA decay.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2287)
  AUTHORS   Sono,R., Larrinaga,T.M., Huang,A., Makhlouf,F., Kang,X., Su,J.,
            Lau,R., Arboleda,V.A., Biniwale,R., Fishbein,G.A., Khanlou,N.,
            Si,M.S., Satou,G.M., Halnon,N., Ucla Congenital Heart
            Defects-BioCore,Faculty., Van Arsdell,G.S., Gregorio,C.C.,
            Nelson,S. and Touma,M.
  TITLE     Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in
            LMOD2 Gene Causing Infantile Dilated Cardiomyopathy
  JOURNAL   Cells 12 (11), 1455 (2023)
   PUBMED   37296576
  REMARK    GeneRIF: Whole-Exome Sequencing Identifies Homozygote Nonsense
            Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2287)
  AUTHORS   Ahrens-Nicklas,R.C., Pappas,C.T., Farman,G.P., Mayfield,R.M.,
            Larrinaga,T.M., Medne,L., Ritter,A., Krantz,I.D., Murali,C.,
            Lin,K.Y., Berger,J.H., Yum,S.W., Carreon,C.K. and Gregorio,C.C.
  TITLE     Disruption of cardiac thin filament assembly arising from a
            mutation in LMOD2: A novel mechanism of neonatal dilated
            cardiomyopathy
  JOURNAL   Sci Adv 5 (9), eaax2066 (2019)
   PUBMED   31517052
  REMARK    GeneRIF: Disruption of cardiac thin filament assembly arising from
            a mutation in LMOD2: A novel mechanism of neonatal dilated
            cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2287)
  AUTHORS   Boczkowska,M., Yurtsever,Z., Rebowski,G., Eck,M.J. and Dominguez,R.
  TITLE     Crystal Structure of Leiomodin 2 in Complex with Actin: A
            Structural and Functional Reexamination
  JOURNAL   Biophys J 113 (4), 889-899 (2017)
   PUBMED   28834725
  REMARK    GeneRIF: Crystal Structure of Leiomodin 2 in Complex with Actin
REFERENCE   5  (bases 1 to 2287)
  AUTHORS   Colpan,M., Tolkatchev,D., Grover,S., Helms,G.L., Cort,J.R.,
            Moroz,N. and Kostyukova,A.S.
  TITLE     Localization of the binding interface between leiomodin-2 and
            alpha-tropomyosin
  JOURNAL   Biochim Biophys Acta 1864 (5), 523-530 (2016)
   PUBMED   26873245
  REMARK    GeneRIF: The mutation reduced binding affinity for both Lmod2 and
            Tmod1. The effect of the K15N mutation on Tpm1.1 binding to Lmod2
            and Tmod1 provides a molecular rationale for the development of
            familial dilated cardiomyopathies .
REFERENCE   6  (bases 1 to 2287)
  AUTHORS   Skwarek-Maruszewska,A., Boczkowska,M., Zajac,A.L., Kremneva,E.,
            Svitkina,T., Dominguez,R. and Lappalainen,P.
  TITLE     Different localizations and cellular behaviors of leiomodin and
            tropomodulin in mature cardiomyocyte sarcomeres
  JOURNAL   Mol Biol Cell 21 (19), 3352-3361 (2010)
   PUBMED   20685966
REFERENCE   7  (bases 1 to 2287)
  AUTHORS   Tsukada,T., Pappas,C.T., Moroz,N., Antin,P.B., Kostyukova,A.S. and
            Gregorio,C.C.
  TITLE     Leiomodin-2 is an antagonist of tropomodulin-1 at the pointed end
            of the thin filaments in cardiac muscle
  JOURNAL   J Cell Sci 123 (Pt 18), 3136-3145 (2010)
   PUBMED   20736303
REFERENCE   8  (bases 1 to 2287)
  AUTHORS   Chereau,D., Boczkowska,M., Skwarek-Maruszewska,A., Fujiwara,I.,
            Hayes,D.B., Rebowski,G., Lappalainen,P., Pollard,T.D. and
            Dominguez,R.
  TITLE     Leiomodin is an actin filament nucleator in muscle cells
  JOURNAL   Science 320 (5873), 239-243 (2008)
   PUBMED   18403713
  REMARK    GeneRIF: study describes an actin-binding protein, leiomodin, that
            acted as a strong filament nucleator in muscle cells
REFERENCE   9  (bases 1 to 2287)
  AUTHORS   Lane,H.Y., Liu,Y.C., Huang,C.L., Chang,Y.C., Wu,P.L., Lu,C.T. and
            Chang,W.H.
  TITLE     Risperidone-related weight gain: genetic and nongenetic predictors
  JOURNAL   J Clin Psychopharmacol 26 (2), 128-134 (2006)
   PUBMED   16633140
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   10 (bases 1 to 2287)
  AUTHORS   Conley,C.A., Fritz-Six,K.L., Almenar-Queralt,A. and Fowler,V.M.
  TITLE     Leiomodins: larger members of the tropomodulin (Tmod) gene family
  JOURNAL   Genomics 73 (2), 127-139 (2001)
   PUBMED   11318603
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC017911.1, AC006333.3 and AA747115.1.
            
            On Nov 23, 2018 this sequence version replaced NM_207163.2.
            
            Sequence Note: The second exon was derived from genomic sequence in
            order to represent the transcript described in PMID 11318603,
            which is consistent with the mouse homolog.
            
            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 :: SRR5189655.140387.1,
                                           SRR5189655.175397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000458573.3/ ENSP00000411932.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-371               BC017911.1         1-371
            372-1715            AC006333.3         96653-97996
            1716-2090           BC017911.1         877-1251
            2091-2115           AC006333.3         98887-98911
            2116-2287           AA747115.1         1-172
FEATURES             Location/Qualifiers
     source          1..2287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.32"
     gene            1..2287
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /note="leiomodin 2"
                     /db_xref="GeneID:442721"
                     /db_xref="HGNC:HGNC:6648"
                     /db_xref="MIM:608006"
     exon            1..371
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1742
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /note="cardiac leiomodin; leiomodin 2 (cardiac)"
                     /codon_start=1
                     /product="leiomodin-2"
                     /protein_id="NP_997046.1"
                     /db_xref="CCDS:CCDS47693.1"
                     /db_xref="GeneID:442721"
                     /db_xref="HGNC:HGNC:6648"
                     /db_xref="MIM:608006"
                     /translation="MSTFGYRRGLSKYESIDEDELLASLSAEELKELERELEDIEPDR
                     NLPVGLRQKSLTEKTPTGTFSREALMAYWEKESQKLLEKERLGECGKVAEDKEESEEE
                     LIFTESNSEVSEEVYTEEEEEESQEEEEEEDSDEEERTIETAKGINGTVNYDSVNSDN
                     SKPKIFKSQIENINLTNGSNGRNTESPAAIHPCGNPTVIEDALDKIKSNDPDTTEVNL
                     NNIENITTQTLTRFAEALKDNTVVKTFSLANTHADDSAAMAIAEMLKVNEHITNVNVE
                     SNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYH
                     FELPGPRMSMTSILTRNMDKQRQKRLQEQKQQEGYDGGPNLRTKVWQRGTPSSSPYVS
                     PRHSPWSSPKLPKKVQTVRSRPLSPVATPPPPPPPPPPPPPSSQRLPPPPPPPPPPLP
                     EKKLITRNIAEVIKQQESAQRALQNGQKKKKGKKVKKQPNSILKEIKNSLRSVQEKKM
                     EDSSRPSTPQRSAHENLMEAIRGSSIKQLKRVEVPEALR"
     exon            372..1715
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..2287
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2268..2273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /note="hexamer: ATTACA"
     polyA_site      2287
                     /gene="LMOD2"
                     /gene_synonym="C-LMOD; CLMOD; CMD2G"
                     /note="major polyA site"
ORIGIN      
        1 agttgttgac cagcctgcca cttgcctccc tgcctgcttc tggccgcctt gaatgcctgg
       61 tccttcaagc tccttctggg tctgacaaag cagggaccat gtctaccttt ggctaccgaa
      121 gaggactcag taaatacgaa tccatcgacg aggatgaact cctcgcctcc ctgtcagccg
      181 aggagctgaa ggagctagag agagagttgg aagacattga acctgaccgc aaccttcccg
      241 tggggctaag gcaaaagagc ctgacagaga aaacccccac agggacattc agcagagagg
      301 cactgatggc ctattgggaa aaggagtccc aaaaactctt ggagaaggag aggctggggg
      361 aatgtggaaa ggttgcagaa gacaaagagg aaagtgaaga agagcttatc tttactgaaa
      421 gtaacagtga ggtttctgag gaagtgtata cagaggagga ggaggaggag tcccaggagg
      481 aagaggagga agaagacagt gacgaagagg aaagaacaat tgaaactgca aaagggatta
      541 atggaactgt aaattatgat agtgtcaatt ctgacaactc taagccaaag atatttaaaa
      601 gtcaaataga gaacataaat ttgaccaatg gcagcaatgg gaggaacaca gagtccccag
      661 ctgccattca cccttgtgga aatcctacag tgattgagga cgctttggac aagattaaaa
      721 gcaatgaccc tgacaccaca gaagtcaatt tgaacaacat tgagaacatc acaacacaga
      781 cccttacccg ctttgctgaa gccctcaagg acaacactgt ggtgaagacg ttcagtctgg
      841 ccaacacgca tgccgacgac agtgcagcca tggccattgc agagatgctc aaagtcaatg
      901 agcacatcac caacgtaaac gtcgagtcca acttcataac gggaaagggg atcctggcca
      961 tcatgagagc tctccagcac aacacggtgc tcacggagct gcgtttccat aaccagaggc
     1021 acatcatggg cagccaggtg gaaatggaga ttgtcaagct gctgaaggag aacacgacgc
     1081 tgctgaggct gggataccat tttgaactcc caggaccaag aatgagcatg acgagcattt
     1141 tgacaagaaa tatggataaa cagaggcaaa aacgtttgca ggagcaaaaa cagcaggagg
     1201 gatacgatgg aggacccaat cttaggacca aagtctggca aagaggaaca cctagctctt
     1261 caccttatgt atctcccagg cactcaccct ggtcatcccc aaaactcccc aaaaaagtcc
     1321 agactgtgag gagccgtcct ctgtctcctg tggccacacc tcctcctcct ccccctcctc
     1381 ctcctcctcc ccctccttct tcccaaaggc tgccaccacc tcctcctcct ccccctcctc
     1441 cactcccaga gaaaaagctc attaccagaa acattgcaga agtcatcaaa caacaggaga
     1501 gtgcccaacg ggcattacaa aatggacaaa aaaagaaaaa agggaaaaag gtcaagaaac
     1561 agccaaacag tattctaaag gaaataaaaa attctctgag gtcagtgcaa gagaagaaaa
     1621 tggaagacag ttcccgacct tctaccccac agagatcagc tcatgagaat ctcatggaag
     1681 caattcgggg aagcagcata aaacagctaa agcgggtgga agttccagaa gccctgcgat
     1741 aaaaacatga tctttagaag aggatgcaga actgttcagt ggtattacat gaaatgcatt
     1801 gtgagatgtt tctaaaatac cttcttcaat tcaaaatgat ccctgacttt aaaaataatc
     1861 tcacccatta attccaaaga gaatcttaag aaacaatcag catgtttctt ctgtaaatat
     1921 gaaaataaat ttctttttta tgtcgtgaga tttgtattgg caagaagcag ttaatttaaa
     1981 gatgctcttc ctatctgtgg atgtgttggt aactccgagt tgtaatgagt tcatgaaatg
     2041 tgctgttatt tttgtaatct caataaatgt ggattgaagt tttttccctt tttttaaagc
     2101 caaactaata tttttctgtg acttgataca tctgtcagat ttttgtaatc tcgataaatg
     2161 tgtattgaag ttttttccct ttttttaaaa agccaaacta atatttttct gtgagttaat
     2221 acatctgtca ggtgtgtatg taacattact ggacattaaa aaaaaatatt acattctcac
     2281 ccaaaaa
//
