LOCUS       NM_005919               1513 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens BORCS8-MEF2B readthrough (BORCS8-MEF2B), transcript
            variant 1, mRNA.
ACCESSION   NM_005919 NM_001134794 XR_041227 XR_041228 XR_041229
VERSION     NM_005919.4
KEYWORDS    RefSeq.
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 1513)
  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   2  (bases 1 to 1513)
  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 1513)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1513)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 1513)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (bases 1 to 1513)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1513)
  AUTHORS   Yerges,L.M., Klei,L., Cauley,J.A., Roeder,K., Kammerer,C.M.,
            Moffett,S.P., Ensrud,K.E., Nestlerode,C.S., Marshall,L.M.,
            Hoffman,A.R., Lewis,C., Lang,T.F., Barrett-Connor,E., Ferrell,R.E.,
            Orwoll,E.S. and Zmuda,J.M.
  CONSRTM   MrOS Research Group
  TITLE     High-density association study of 383 candidate genes for
            volumetric BMD at the femoral neck and lumbar spine among older men
  JOURNAL   J Bone Miner Res 24 (12), 2039-2049 (2009)
   PUBMED   19453261
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1513)
  AUTHORS   Han,T.H. and Prywes,R.
  TITLE     Regulatory role of MEF2D in serum induction of the c-jun promoter
  JOURNAL   Mol Cell Biol 15 (6), 2907-2915 (1995)
   PUBMED   7760790
REFERENCE   9  (bases 1 to 1513)
  AUTHORS   Yu,Y.T., Breitbart,R.E., Smoot,L.B., Lee,Y., Mahdavi,V. and
            Nadal-Ginard,B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (bases 1 to 1513)
  AUTHORS   Pollock,R. and Treisman,R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002126.1 and X68502.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005919.3.
            
            Summary: This gene represents numerous read-through transcripts
            that span GeneID:729991 and 100271849. Many read-through
            transcripts are predicted to be nonsense-mediated decay (NMD)
            candidates, and are thought to be non-coding. Some transcripts are
            predicted to be capable of translation reinitiation at a downstream
            AUG, resulting in expression of at least one isoform of myocyte
            enhancer factor 2B (MEF2B) from this read-through locus. At least
            one additional MEF2B variant and isoform can be expressed from a
            downstream promoter, and is annotated on GeneID:100271849.
            [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (1) lacks two alternate exons in
            the 5' region and one alternate exon in the 3' region, compared to
            variant 2. This variant is thought to be protein coding because
            translation can reinitiate at the downstream AUG, resulting in
            expression of an isoform of MEF2B (geneID:100271849). Isoform b has
            a shorter and distinct C-terminus, compared to MEF2A isoform a
            (NP_001139257.1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X68502.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 729991,
                                      100271849
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AC002126.1         82848-82887         c
            41-1513             X68502.1           2-1474
FEATURES             Location/Qualifiers
     source          1..1513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1513
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /note="BORCS8-MEF2B readthrough"
                     /db_xref="GeneID:4207"
                     /db_xref="HGNC:HGNC:39979"
     exon            1..72
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            73..183
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            184..259
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            260..342
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             289..1386
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /note="isoform b is encoded by transcript variant 1;
                     myocyte enhancer factor 2B; LOC729991-MEF2B readthrough;
                     MEF2BNB-MEF2B readthrough; serum response factor-like
                     protein 2; myocyte-specific enhancer factor 2B"
                     /codon_start=1
                     /product="myocyte-specific enhancer factor 2B isoform b"
                     /protein_id="NP_005910.1"
                     /db_xref="GeneID:4207"
                     /db_xref="HGNC:HGNC:39979"
                     /translation="MGRKKIQISRILDQRNRQVTFTKRKFGLMKKAYELSVLCDCEIA
                     LIIFNSANRLFQYASTDMDRVLLKYTEYSEPHESRTNTDILETLKRRGIGLDGPELEP
                     DEGPEEPGEKFRRLAGEGGDPALPRPRLYPAAPAMPSPDVVYGALPPPGCDPSGLGEA
                     LPAQSRPSPFRPAAPKAGPPGLVHPLFSPSHLTSKTPPPLYLPTEGRRSDLPGGLAGP
                     RGGLNTSRSLYSGLQNPCSTATPGPPLGSFPFLPGGPPVGAEAWARRVPQPAAPPRRP
                     PQSASSLSASLRPPGAPATFLRPSPIPCSSPGPWQSLCGLGPPCAGCPWPTAGPGRRS
                     PGGTSPERSPGTARARGDPTSLQASSEKTQQ"
     exon            343..546
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            547..681
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            682..829
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            830..963
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1057
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1513
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1483..1488
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /note="hexamer: AATAAA"
     polyA_site      1513
                     /gene="BORCS8-MEF2B"
                     /gene_synonym="LOC729991-MEF2B; MEF2B; MEF2BNB-MEF2B;
                     RSRFR2"
                     /note="major polyA site"
ORIGIN      
        1 ggtgccgttt cccggttcgc tcggccgcgg tcgctatgga ggagccggag atgcagctca
       61 aggggaagaa agcgccgtga agaacctggt ggacagcagc gtctacttcc gcagcgtgga
      121 gggtctgctc aaacaggcca tcagcatccg ggaccatatg aatgccagtg cccagggcca
      181 cagcccggag gaaccacccc cgccctcctc agcctgatcc tggaagagac tcggggcccc
      241 ccagcctccg ccaacccaga caaagatcat tccactcagc ctgggacgat ggggaggaaa
      301 aaaatccaga tctcccgcat cctggaccaa aggaatcggc aggtgacgtt caccaagcgg
      361 aagttcgggc tgatgaagaa ggcctatgag ctgagcgtgc tctgtgactg tgagatagcc
      421 ctcatcatct tcaacagcgc caaccgcctc ttccagtatg ccagcacgga catggaccgt
      481 gtgctgctga agtacacaga gtacagcgag ccccacgaga gccgcaccaa cactgacatc
      541 ctcgagacgc tgaagcggag gggcattggc ctcgatgggc cagagctgga gccggatgaa
      601 gggcctgagg agccaggaga gaagtttcgg aggctggcag gcgaaggggg tgatccggcc
      661 ttgccccgac cccggctgta tcctgcagct cctgctatgc ccagcccaga tgtggtatac
      721 ggggccttac cgccaccagg ctgtgacccc agtgggcttg gggaagcact gcccgcccag
      781 agccgcccat ctcccttccg accagcagcc cccaaagccg ggcccccagg cctggtgcac
      841 cctctcttct caccaagcca cctcaccagc aagacaccac ccccactgta cctgccgacg
      901 gaagggcgga ggtcagacct gcctggtggc ctggctgggc cccgaggggg actaaacacc
      961 tccagaagcc tctacagtgg cctgcagaac ccctgctcca ctgcaactcc cggaccccca
     1021 ctggggagct tccccttcct ccccggaggc cccccagtgg gggccgaagc ctgggcgagg
     1081 agggtccccc aacccgcggc gcctccccgc cgaccccccc agtcagcatc aagtctgagc
     1141 gcctctctcc ggcccccggg ggccccggcg actttcctaa gaccttcccc tatcccttgc
     1201 tcctcgcccg gtccctggca gagcctctgc ggcctgggcc cgccctgcgc cggctgccct
     1261 tggccgacgg ctggccccgg taggagatca cccggtggca ccagcccaga gcgctcgcca
     1321 ggtacggcga gggcacgtgg ggaccccacc tccctccagg cctcttcaga gaagacccaa
     1381 cagtgacgcc cccctccgcg gtgggggctt ggaggtgggc ggctggactc aatccaccct
     1441 ggggggctcc tttccttctt cctatttgtg tgtatatcca caaataaaac gcgcgtggcg
     1501 tccgtggacc aga
//
