LOCUS       NM_181336               2941 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens LEM domain nuclear envelope protein 2 (LEMD2),
            transcript variant 1, mRNA.
ACCESSION   NM_181336
VERSION     NM_181336.4
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 2941)
  AUTHORS   Vargas,J.D.
  TITLE     The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy
  JOURNAL   Circ Res 132 (2), 185-186 (2023)
   PUBMED   36656966
  REMARK    GeneRIF: The Role of the LEMD2 p.L13R Mutation in Dilated
            Cardiomyopathy.
REFERENCE   2  (bases 1 to 2941)
  AUTHORS   Caravia,X.M., Ramirez-Martinez,A., Gan,P., Wang,F., McAnally,J.R.,
            Xu,L., Bassel-Duby,R., Liu,N. and Olson,E.N.
  TITLE     Loss of function of the nuclear envelope protein LEMD2 causes DNA
            damage-dependent cardiomyopathy
  JOURNAL   J Clin Invest 132 (22), e158897 (2022)
   PUBMED   36377660
  REMARK    GeneRIF: Loss of function of the nuclear envelope protein LEMD2
            causes DNA damage-dependent cardiomyopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2941)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2941)
  AUTHORS   Feurle,P., Abentung,A., Cera,I., Wahl,N., Ablinger,C., Bucher,M.,
            Stefan,E., Sprenger,S., Teis,D., Fischer,A., Laighneach,A.,
            Whitton,L., Morris,D.W., Apostolova,G. and Dechant,G.
  TITLE     SATB2-LEMD2 interaction links nuclear shape plasticity to
            regulation of cognition-related genes
  JOURNAL   EMBO J 40 (3), e103701 (2021)
   PUBMED   33319920
  REMARK    GeneRIF: SATB2-LEMD2 interaction links nuclear shape plasticity to
            regulation of cognition-related genes.
REFERENCE   5  (bases 1 to 2941)
  AUTHORS   von Appen,A., LaJoie,D., Johnson,I.E., Trnka,M.J., Pick,S.M.,
            Burlingame,A.L., Ullman,K.S. and Frost,A.
  TITLE     LEM2 phase separation promotes ESCRT-mediated nuclear envelope
            reformation
  JOURNAL   Nature 582 (7810), 115-118 (2020)
   PUBMED   32494070
  REMARK    GeneRIF: LEM2 phase separation promotes ESCRT-mediated nuclear
            envelope reformation
REFERENCE   6  (bases 1 to 2941)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 2941)
  AUTHORS   Huber,M.D., Guan,T. and Gerace,L.
  TITLE     Overlapping functions of nuclear envelope proteins NET25 (Lem2) and
            emerin in regulation of extracellular signal-regulated kinase
            signaling in myoblast differentiation
  JOURNAL   Mol Cell Biol 29 (21), 5718-5728 (2009)
   PUBMED   19720741
REFERENCE   8  (bases 1 to 2941)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2941)
  AUTHORS   Ulbert,S., Antonin,W., Platani,M. and Mattaj,I.W.
  TITLE     The inner nuclear membrane protein Lem2 is critical for normal
            nuclear envelope morphology
  JOURNAL   FEBS Lett 580 (27), 6435-6441 (2006)
   PUBMED   17097643
REFERENCE   10 (bases 1 to 2941)
  AUTHORS   Brachner,A., Reipert,S., Foisner,R. and Gotzmann,J.
  TITLE     LEM2 is a novel MAN1-related inner nuclear membrane protein
            associated with A-type lamins
  JOURNAL   J Cell Sci 118 (Pt 24), 5797-5810 (2005)
   PUBMED   16339967
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158049.11, BC039864.1,
            AK024858.1 and BM978238.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_181336.3.
            
            Summary: This gene encodes a LEM domain-containing transmembrane
            protein of the inner nuclear membrane. The protein is involved in
            nuclear structure organization and plays a role in cell signaling
            and differentiation. Mutations in this gene result in Cataract 46,
            juvenile-onset. Multiple transcript variants have been found for
            this gene. [provided by RefSeq, Feb 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longest isoform (1).
            
            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 :: BC051803.1, AK074959.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293760.10/ ENSP00000293760.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL158049.11        40407-40407         c
            2-1548              BC039864.1         1-1547
            1549-2876           AK024858.1         374-1701
            2877-2941           BM978238.1         18-82               c
FEATURES             Location/Qualifiers
     source          1..2941
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2941
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="LEM domain nuclear envelope protein 2"
                     /db_xref="GeneID:221496"
                     /db_xref="HGNC:HGNC:21244"
                     /db_xref="MIM:616312"
     exon            1..750
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1526
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="isoform 1 is encoded by transcript variant 1; LEM
                     domain-containing protein 2; hLEM2; lamina-associated
                     polypeptide-emerin-MAN1 domain containing 2; LEM domain
                     containing 2"
                     /codon_start=1
                     /product="LEM domain-containing protein 2 isoform 1"
                     /protein_id="NP_851853.1"
                     /db_xref="CCDS:CCDS4785.1"
                     /db_xref="GeneID:221496"
                     /db_xref="HGNC:HGNC:21244"
                     /db_xref="MIM:616312"
                     /translation="MAGLSDLELRRELQALGFQPGPITDTTRDVYRNKLRRLRGEARL
                     RDEERLREEARPRGEERLREEARLREDAPLRARPAAASPRAEPWLSQPASGSAYATPG
                     AYGDIRPSAASWVGSRGLAYPARPAQLRRRASVRGSSEEDEDARTPDRATQGPGLAAR
                     RWWAASPAPARLPSSLLGPDPRPGLRATRAGPAGAARARPEVGRRLERWLSRLLLWAS
                     LGLLLVFLGILWVKMGKPSAPQEAEDNMKLLPVDCERKTDEFCQAKQKAALLELLHEL
                     YNFLAIQAGNFECGNPENLKSKCIPVMEAQEYIANVTSSSSAKFEAALTWILSSNKDV
                     GIWLKGEDQSELVTTVDKVVCLESAHPRMGVGCRLSRALLTAVTNVLIFFWCLAFLWG
                     LLILLKYRWRKLEEEEQAMYEMVKKIIDVVQDHYVDWEQDMERYPYVGILHVRDSLIP
                     PQSRRRMKRVWDRAVEFLASNESRIQTESHRVAGEDMLVWRWTKPSSFSDSER"
     exon            751..791
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            792..867
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            868..944
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1024
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1170
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1272
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1375
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..2941
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2735..2740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="hexamer: AATAAA"
     polyA_site      2756
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="major polyA site"
     regulatory      2918..2923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="hexamer: AATAAA"
     polyA_site      2941
                     /gene="LEMD2"
                     /gene_synonym="CTRCT42; dJ482C21.1; LEM2; MARUPS; NET25"
                     /note="major polyA site"
ORIGIN      
        1 gcggcgtcct ggccatggcc ggcctgtcgg acctggaact gcggcgggag ctgcaggccc
       61 tgggcttcca gccaggaccc atcaccgaca ccacccggga tgtctaccgc aacaagctgc
      121 gccgcctgcg gggcgaggcc cggctgcgcg acgaggagcg gctgcgggag gaggcccggc
      181 cgcggggcga ggagcggtta cgggaagagg cccggttacg cgaggatgcg ccgctgcgcg
      241 cccggcccgc cgcggcctct ccgcgggcgg agccctggct ctcccagccg gcctcgggct
      301 cggcctacgc gacccctggg gcctacggtg atatccggcc ctccgcggct tcctgggtag
      361 ggagccgcgg cctcgcctat cctgcccgcc cggcgcaact caggcgccgc gcctcggtcc
      421 ggggcagctc cgaggaggac gaggacgccc ggacgcccga cagggccacg cagggcccgg
      481 gtctcgcggc ccgccgctgg tgggcagcgt ctcccgcccc ggcgcggctg ccttcctccc
      541 tcctcggtcc cgacccgcgc ccgggcctgc gggcgactcg agcgggccct gctggcgcgg
      601 cgagggcccg gcctgaggtg gggcgccggc tggagcgctg gctctctcgg cttctgctct
      661 gggccagcct agggctactg ctcgtcttcc tgggcatcct ttgggtgaag atgggcaagc
      721 cctcagcgcc gcaggaggcg gaggacaaca tgaagttatt gccagtggac tgtgagagaa
      781 aaacagatga gttctgtcag gccaagcaga aggcagcctt gctggagctg ctgcatgaac
      841 tctacaattt cctggccatc caagctggta attttgagtg tggaaatcca gagaatctaa
      901 aaagcaaatg cattcctgtt atggaagccc aagaatatat agccaatgtg accagcagct
      961 cctccgccaa gtttgaagcc gcactgacct ggatactgag cagtaacaag gacgtgggca
     1021 tctggttgaa aggagaagac cagtctgaat tggtgacgac tgtggacaag gtggtctgcc
     1081 tggaatctgc ccacccccgc atgggtgttg gctgccgcct gagccgggcc ttgctcactg
     1141 ctgtcaccaa cgtgctcatc ttcttctggt gcttggcttt tttgtggggg ctcctaattc
     1201 tcctaaaata tcggtggcga aagttagaag aggaggaaca agccatgtat gagatggtga
     1261 agaagattat agacgtggtc caggaccatt acgtggactg ggagcaggac atggagcgct
     1321 atccatatgt aggcatcctg cacgtgcgcg acagcttgat ccctccacag agccggaggc
     1381 gcatgaagcg tgtctgggac cgagctgtgg agttcctggc ctccaacgaa tcccggatcc
     1441 agacggagtc ccaccgcgtt gcaggagagg acatgctggt gtggagatgg actaagccct
     1501 cttccttctc tgactcagag cgataagccc cgggcgggga cttgttcccg gtcagcctgt
     1561 cccaggacag cccactccag aggcacagga gggtcaccag gcctgcggtg ctgaattcac
     1621 acttgccttg actttcagtc tcgtcctgac acgattccaa aggtctgcca tactcttcag
     1681 aggagttcgg ctcgcaggaa aatgtgggct tcctttaaag ggagggggag aagccagggt
     1741 gatagcccag actctgccct gttgtgctgg cagaaacggg gagaagggtt gagttttcat
     1801 gaatagaaaa caagagcagc agctgtcagg cccagctgac aagcgtgggg ctggtgggct
     1861 ggggcatggc cacgccaggg agtctgtcac ctgggaggtg gggcagggat ggtgtttcgg
     1921 gtggcgggat ggggagcagc ttggtccatg tgccttcagg gggttgttac ttgagagctc
     1981 cagggtgaag ggagaaagcc tgtgctctgg ctggctgggc ctctatcctg aagagggaag
     2041 gtgctagaaa ttagaacaag tgactgtagg ggggaccgtc tagaaacacc aggcccagac
     2101 acacggtccc tcaggtcagg aggagtgagc agccggcaca gcctcctggg aggatcccga
     2161 agtagggact ggggctgaga gcagagagga gggtcgggca gccccagggc gggcgggccc
     2221 gcctcagtgt tgcttctcac agaagctgcg actctagacc aggcctgcag ccagaacgcc
     2281 gattccggga gcttgggagc cctgcgtcag ggcccagagc ctcgcacttg ctgtgtgcga
     2341 agatcgcctt gctttactgt gaccacagcc ccgacgcggg gctgtttaac aagaacttca
     2401 gcgcagccgg cgtttctgtt accccggccg cggctcttgg cggcgggaga ggcgcagtgg
     2461 ctgcaggctg ccccctgccg gccacaaggg agcagcgtcc gcgccgccgc ccaccggccc
     2521 tcccgccagc tcctcagcct gctccctggg aggcaggctc cagaagcacc ccgacggggg
     2581 gccttattaa gtgcgagaag cctctccagc gagtcttccc cgtgtgtcct catctgcggc
     2641 aggcaggaga gggggagcaa acaggaaatt ccacagctgc ctccagaaac attaaccacc
     2701 cctctctagt cttactggta ttttttgttt ccttaataaa gctccagtct ccctcatttg
     2761 agcaatactc tcatttcctc tgatgtctgg atgatcggca gggcaggaat ctgagcgctg
     2821 gccccgtggt gaggccatgt tctcataatc aggctccagc cagaaaaata agaaacaccg
     2881 caacaggctt cagtatcagg gctgaaactg ctggatgaat aaactattta ttaaaaacgg
     2941 a
//
