LOCUS       NM_001039958            1640 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens mesoderm posterior bHLH transcription factor 2
            (MESP2), mRNA.
ACCESSION   NM_001039958 XM_085261 XM_938609
VERSION     NM_001039958.2
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 1640)
  AUTHORS   Zhang,E., Yang,J., Liu,Y., Hong,N., Xie,H., Fu,Q., Li,F., Chen,S.,
            Yu,Y. and Sun,K.
  TITLE     MESP2 variants contribute to conotruncal heart defects by
            inhibiting cardiac neural crest cell proliferation
  JOURNAL   J Mol Med (Berl) 98 (7), 1035-1048 (2020)
   PUBMED   32572506
  REMARK    GeneRIF: MESP2 variants contribute to conotruncal heart defects by
            inhibiting cardiac neural crest cell proliferation.
REFERENCE   2  (bases 1 to 1640)
  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   3  (bases 1 to 1640)
  AUTHORS   Qiu,X.S., Zhou,S., Jiang,H., Ji,M.L., Ding,Q., Lv,F., Liu,Z.,
            Tang,N., Cheng,J.C. and Qiu,Y.
  TITLE     Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients
            with congenital scoliosis
  JOURNAL   Stud Health Technol Inform 176, 52-55 (2012)
   PUBMED   22744456
  REMARK    GeneRIF: MESP2, HES7 and DUSP6 genes may not be involved in the
            etiopathogenesis of sporadic and non-syndromic CS in Chinese Han
            population.
REFERENCE   4  (bases 1 to 1640)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   5  (bases 1 to 1640)
  AUTHORS   Morimoto,M., Kiso,M., Sasaki,N. and Saga,Y.
  TITLE     Cooperative Mesp activity is required for normal somitogenesis
            along the anterior-posterior axis
  JOURNAL   Dev Biol 300 (2), 687-698 (2006)
   PUBMED   16996494
  REMARK    GeneRIF: Mesp1 is down-regulated in the later stages of development
            by increasing levels of Mesp2 in the wild-type embryo.
REFERENCE   6  (bases 1 to 1640)
  AUTHORS   Whittock,N.V., Sparrow,D.B., Wouters,M.A., Sillence,D., Ellard,S.,
            Dunwoodie,S.L. and Turnpenny,P.D.
  TITLE     Mutated MESP2 causes spondylocostal dysostosis in humans
  JOURNAL   Am J Hum Genet 74 (6), 1249-1254 (2004)
   PUBMED   15122512
  REMARK    GeneRIF: Mutated MESP2 causes spondylocostal dysostosis
REFERENCE   7  (bases 1 to 1640)
  AUTHORS   McLellan,A.S., Langlands,K. and Kealey,T.
  TITLE     Exhaustive identification of human class II basic helix-loop-helix
            proteins by virtual library screening
  JOURNAL   Mech Dev 119 Suppl 1, S285-S291 (2002)
   PUBMED   14516699
REFERENCE   8  (bases 1 to 1640)
  AUTHORS   Haraguchi,S., Kitajima,S., Takagi,A., Takeda,H., Inoue,T. and
            Saga,Y.
  TITLE     Transcriptional regulation of Mesp1 and Mesp2 genes: differential
            usage of enhancers during development
  JOURNAL   Mech Dev 108 (1-2), 59-69 (2001)
   PUBMED   11578861
REFERENCE   9  (bases 1 to 1640)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301771
REFERENCE   10 (bases 1 to 1640)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079075.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 31, 2018 this sequence version replaced NM_001039958.1.
            
            Summary: This gene encodes a member of the bHLH family of
            transcription factors and plays a key role in defining the
            rostrocaudal patterning of somites via interactions with multiple
            Notch signaling pathways. This gene is expressed in the anterior
            presomitic mesoderm and is downregulated immediately after the
            formation of segmented somites. This gene also plays a role in the
            formation of epithelial somitic mesoderm and cardiac mesoderm.
            Mutations in the MESP2 gene cause autosomal recessive
            spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008].
            
            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 :: BC111413.1, SRR1803613.386327.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341735.5/ ENSP00000342392.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-950               AC079075.6         22945-23894         c
            951-1640            AC079075.6         21472-22161         c
FEATURES             Location/Qualifiers
     source          1..1640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..1640
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="mesoderm posterior bHLH transcription factor 2"
                     /db_xref="GeneID:145873"
                     /db_xref="HGNC:HGNC:29659"
                     /db_xref="MIM:605195"
     exon            1..950
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1220
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="mesoderm posterior 2 homolog; mesoderm posterior
                     basic helix-loop-helix transcription factor 2; class C
                     basic helix-loop-helix protein 6"
                     /codon_start=1
                     /product="mesoderm posterior protein 2"
                     /protein_id="NP_001035047.1"
                     /db_xref="CCDS:CCDS42078.1"
                     /db_xref="GeneID:145873"
                     /db_xref="HGNC:HGNC:29659"
                     /db_xref="MIM:605195"
                     /translation="MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCP
                     CDGARGLPQPQPPSCSSRAAEAAATTPRRARTGPAGGQRQSASEREKLRMRTLARALH
                     ELRRFLPPSLAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEESLQCRRRQRGDAGSPW
                     GCPLCPDRGPAEAQTQAEGQGQGQGQGQGQGQGQGQGQGQGQGQGRRPGLVSAVLAEA
                     SWGSPSACPGAQAAPERLGRGVHDTDPWATPPYCPKIQSPPYSSQGTTSDASLWTPPQ
                     GCPWTQSSPEPRNPPVPWTAAPATLELAAVYQGLSVSPEPCLSLGAPSLLPHPSCQRL
                     QPQTPGRCWSHSAEVVPNSEDQGPGAAFQLSEASPPQSSGLRFSGCPELWQEDLEGAR
                     LGIFY"
     exon            951..1640
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="hexamer: AAGAAA"
     polyA_site      1640
                     /gene="MESP2"
                     /gene_synonym="bHLHc6; SCDO2"
                     /note="major polyA site"
ORIGIN      
        1 agcctcccag agcctgcagc ccggccatgg cccagtcgcc tcctccgcag agcctcctcg
       61 gccacgacca ctggatcttc gcccagggct ggggctgggc cggccactgg gactccacgt
      121 ccccggcctc ctcctccgat tcgtcgggtt cgtgcccctg cgacggcgcc cgcggactcc
      181 cgcagccaca gcctccgagc tgcagctccc gagccgcaga ggcagccgcg acgacgccca
      241 gacgagcgcg caccggacca gcgggcggac agcggcagag cgccagcgag cgggagaaac
      301 tgcgcatgcg cacgctggcc cgcgccctgc acgagttgcg ccgctttctg cctccctcct
      361 tggcgccggc cggccagagc ctgaccaaga tcgagacgct gcgcctggcc atccgctaca
      421 tcggccacct atcggccgtg ctgggtctca gcgaggagag tctgcagtgc cggcgcaggc
      481 agcgcgggga cgcggggtcc ccttggggct gcccgctgtg ccccgaccgt ggccccgcag
      541 aggcgcagac gcaggcggag gggcaggggc aagggcaggg gcaggggcag gggcaagggc
      601 aggggcaagg acaggggcaa ggacaggggc aagggcaggg gcgcaggccg ggcctggtct
      661 ccgccgtcct cgccgaggcg tcctggggat ccccgtccgc ctgccccgga gcccaagccg
      721 cacccgagcg cctggggagg ggggtccacg acacggatcc ctgggcaaca cccccttact
      781 gccccaagat acagtcgccc ccgtattcgt cccaagggac aacctccgac gcgtctcttt
      841 ggacgccacc ccaaggctgt ccctggacgc agtcgtcccc agagccccgg aacccaccag
      901 tgccctggac ggcggcccca gcaactttgg agctggccgc agtgtaccag ggtctctctg
      961 tgtctccaga gccctgtctg tcgctgggag ctccatctct cctgccccac ccatcatgcc
     1021 agagactgca gcctcagacc cccgggaggt gctggagcca cagtgcagag gtggtgccca
     1081 actcagagga ccagggaccg ggcgccgcct tccagctcag tgaagcaagc cctccccaga
     1141 gctcaggcct gcggttcagt ggctgccctg aactttggca agaagatctg gagggggccc
     1201 gcctgggcat cttctactaa atggcctcgg cttccctctt tccatccagg aatcagtcct
     1261 gtagcttggg tgcctcctta tttgttaatt agtggctttt catgttctcc tttagccaag
     1321 gctccctttt tccaagtgat gtctttcagg gaagcagtgt ttgaaataga tagcgggtac
     1381 cttccctgga tggagtcagg gcgggggcac tgtcctccac tgctagacac ccccagaatg
     1441 cctggcgctc tgcagagcac agtctgagct gctctaagaa ggggtctcct ttaccctaaa
     1501 ggcagctggg cagggacagg tgggagaatg ggtgtaggag gcaggcccca ggctctgctt
     1561 cttggtgaca gttggccaga gccctgtatg ctttgatttt tttgtactta aaaagaaaaa
     1621 acacacacac acaacaaaaa
//
