LOCUS       NM_002449               2195 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens msh homeobox 2 (MSX2), transcript variant 1, mRNA.
ACCESSION   NM_002449
VERSION     NM_002449.5
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 2195)
  AUTHORS   Du,C., Jiang,J., Li,Y., Yu,M., Jin,J., Chen,S., Fan,H.,
            Macfarlan,T.S., Cao,B. and Sun,M.A.
  TITLE     Regulation of endogenous retrovirus-derived regulatory elements by
            GATA2/3 and MSX2 in human trophoblast stem cells
  JOURNAL   Genome Res 33 (2), 197-207 (2023)
   PUBMED   36806146
  REMARK    GeneRIF: Regulation of endogenous retrovirus-derived regulatory
            elements by GATA2/3 and MSX2 in human trophoblast stem cells.
REFERENCE   2  (bases 1 to 2195)
  AUTHORS   Stec,M., Seweryn,M., Korkosz,M., Gula,Z., Szatanek,R.,
            Weglarczyk,K., Rutkowska-Zapala,M., Lenart,M., Czepiel,M., Czyz,J.,
            Baran,J., Gruca,A., Wojnar-Lason,K., Wolkow,P. and Siedlar,M.
  TITLE     Expression of VEGFA-mRNA in classical and MSX2-mRNA in
            non-classical monocytes in patients with spondyloarthritis is
            associated with peripheral arthritis
  JOURNAL   Sci Rep 11 (1), 9693 (2021)
   PUBMED   33958655
  REMARK    GeneRIF: Expression of VEGFA-mRNA in classical and MSX2-mRNA in
            non-classical monocytes in patients with spondyloarthritis is
            associated with peripheral arthritis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2195)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2195)
  AUTHORS   Wang,H., Wang,M., Wang,Y., Wen,Y., Chen,X., Wu,D., Su,P., Zhou,W.,
            Shi,L. and Zhou,J.
  TITLE     MSX2 suppression through inhibition of TGFbeta signaling enhances
            hematopoietic differentiation of human embryonic stem cells
  JOURNAL   Stem Cell Res Ther 11 (1), 147 (2020)
   PUBMED   32248833
  REMARK    GeneRIF: MSX2 suppression through inhibition of TGFbeta signaling
            enhances hematopoietic differentiation of human embryonic stem
            cells.
            Erratum:[Stem Cell Res Ther. 2020 Jun 17;11(1):242. doi:
            10.1186/s13287-020-01760-1.. PMID: 32552746]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2195)
  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   6  (bases 1 to 2195)
  AUTHORS   Semenza,G.L., Wang,G.L. and Kundu,R.
  TITLE     DNA binding and transcriptional properties of wild-type and mutant
            forms of the homeodomain protein Msx2
  JOURNAL   Biochem Biophys Res Commun 209 (1), 257-262 (1995)
   PUBMED   7726844
REFERENCE   7  (bases 1 to 2195)
  AUTHORS   Iimura,T.
  TITLE     [Molecular cloning and expression of homeobox-containing genes
            during hard tissue development]
  JOURNAL   Kokubyo Gakkai Zasshi 61 (4), 590-604 (1994)
   PUBMED   7897272
REFERENCE   8  (bases 1 to 2195)
  AUTHORS   Hodgkinson,J.E., Davidson,C.L., Beresford,J. and Sharpe,P.T.
  TITLE     Expression of a human homeobox-containing gene is regulated by
            1,25(OH)2D3 in bone cells
  JOURNAL   Biochim Biophys Acta 1174 (1), 11-16 (1993)
   PUBMED   8101453
  REMARK    Erratum:[Biochim Biophys Acta 1993 Oct 19;1216(1):173]
REFERENCE   9  (bases 1 to 2195)
  AUTHORS   Suzuki,M., Tanaka,M., Iwase,T., Naito,Y., Sugimura,H. and Kino,I.
  TITLE     Over-expression of HOX-8, the human homologue of the mouse Hox-8
            homeobox gene, in human tumors
  JOURNAL   Biochem Biophys Res Commun 194 (1), 187-193 (1993)
   PUBMED   7687426
REFERENCE   10 (bases 1 to 2195)
  AUTHORS   Mavrogiannis,L.A. and Wilkie,A.O.M.
  TITLE     Enlarged Parietal Foramina
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL552909.3, AC117531.2,
            W38629.1 and D89377.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002449.4.
            
            Summary: This gene encodes a member of the muscle segment homeobox
            gene family. The encoded protein is a transcriptional repressor
            whose normal activity may establish a balance between survival and
            apoptosis of neural crest-derived cells required for proper
            craniofacial morphogenesis. The encoded protein may also have a
            role in promoting cell growth under certain conditions and may be
            an important target for the RAS signaling pathways. Mutations in
            this gene are associated with parietal foramina 1 and
            craniosynostosis type 2. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803612.79072.1,
                                           SRR1660805.143303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239243.7/ ENSP00000239243.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AL552909.3         11-32
            23-457              AC117531.2         99288-99722
            458-1160            AC117531.2         103843-104545
            1161-1391           W38629.1           23-253
            1392-2164           AC117531.2         104777-105549
            2165-2195           D89377.1           2150-2180
FEATURES             Location/Qualifiers
     source          1..2195
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     gene            1..2195
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="msh homeobox 2"
                     /db_xref="GeneID:4488"
                     /db_xref="HGNC:HGNC:7392"
                     /db_xref="MIM:123101"
     exon            1..457
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..882
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homeobox protein MSX-2; msh homeo box 2; homeobox protein
                     Hox-8; msh homeobox homolog 2"
                     /codon_start=1
                     /product="homeobox protein MSX-2 isoform 1"
                     /protein_id="NP_002440.2"
                     /db_xref="CCDS:CCDS4392.1"
                     /db_xref="GeneID:4488"
                     /db_xref="HGNC:HGNC:7392"
                     /db_xref="MIM:123101"
                     /translation="MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSS
                     LPFSVEALMSDKKPPKEASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETA
                     SVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERK
                     FRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPS
                     SFSLPFPISSPLQAASIYGASYPFHRPVLPIPPVGLYATPVGYGMYHLS"
     exon            458..2195
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1156..1161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="hexamer: AATAAA"
     polyA_site      1184
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
     regulatory      2146..2151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="hexamer: ATTAAA"
     regulatory      2172..2177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="hexamer: AGTAAA"
     polyA_site      2172
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="major polyA site"
     polyA_site      2195
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
ORIGIN      
        1 gcagcaaaaa agtttgagtc gccgctgccg ggttgccagc ggagtcgcgc gtcgggagct
       61 acgtagggca gagaagtcat ggcttctccg tccaaaggca atgacttgtt ttcgcccgac
      121 gaggagggcc cagcagtggt ggccggacca ggcccggggc ctgggggcgc cgagggggcc
      181 gcggaggagc gccgcgtcaa ggtctccagc ctgcccttca gcgtggaggc gctcatgtcc
      241 gacaagaagc cgcccaagga ggcgtccccg ctgccggccg aaagcgcctc ggccggggcc
      301 accctgcggc cactgctgct gtcggggcac ggcgctcggg aagcgcacag ccccgggccg
      361 ctggtgaagc ccttcgagac cgcctcggtc aagtcggaaa attcagaaga tggagcggcg
      421 tggatgcagg aacccggccg atattcgccg ccgccaagac atatgagccc taccacctgc
      481 accctgagga aacacaagac caatcggaag ccgcgcacgc cctttaccac atcccagctc
      541 ctcgccctgg agcgcaagtt ccgtcagaaa cagtacctct ccattgcaga gcgtgcagag
      601 ttctccagct ctctgaacct cacagagacc caggtcaaaa tctggttcca gaaccgaagg
      661 gccaaggcga aaagactgca ggaggcagaa ctggaaaagc tgaaaatggc tgcaaaacct
      721 atgctgccct ccagcttcag tctccctttc cccatcagct cgcccctgca ggcagcgtcc
      781 atatatggag catcctaccc gttccataga cctgtgcttc ccatcccgcc tgtgggactc
      841 tatgccacgc cagtgggata tggcatgtac cacctgtcct aaggaagacc agatcaatag
      901 actccatgat ggatgcttgt ttcaaagggt ttcctctccc tctccacgaa ggcagtacca
      961 gccagtactc ctgctctgct aaccctgcgt gcaccaccct aagcggctag gctgacaggg
     1021 ccacacgaca tagctgaaat ttgttctgta ggcggaggca ccaagccctg ttttcttggt
     1081 gtaatcttcc agatgccccc ttttcctttc acaaagattg gctctgatgg tttttatgta
     1141 taaatatata tatataataa aatataatac atttttatac agcagacgta aaaattcaaa
     1201 ttattttaaa aggcaaaatt tatatacata tgtgcttttt ttctatatct caccttccca
     1261 aaagacactg tgtaagtcca tttgttgtat tttcttaaag agggagacaa attatttgca
     1321 aaatgtgcta aagtcaatga tttttacggg attattgact tctgcttatg gaaaacaaag
     1381 aaacagacac aatgcacaca gaaaatatta gatatggaga gattattcaa agtgaagggg
     1441 acacatcata tttctgcatt ttacttgcat taaaagaaac ctctttatat actacagttg
     1501 ttcctatctc tcccccgccc cccaccgccc caccacacac atatttttaa agtttttcct
     1561 tttttaagaa tatttttgta agaccaatac ctgggatgag aagaatcctg agactgcctg
     1621 gaggtgaggt agaaaattag aaatacttcc taattcttct caaggctgtt ggtaacttta
     1681 tttcagataa ttggagagta aaatgttaaa acctgttgag aggaattgat ggtttctgag
     1741 aaatactagg tacattcatc ctcacagatt gcaaaggtga tttgggtggg ggtttagtaa
     1801 ttttctgctt aaaaaatgag tatcttgtaa ccattaccta tatgctaaat attcttgaac
     1861 aattagtaga tccagaaaga aaaaaaaata tgctttctct gtgtgtgtac ctgttgtatg
     1921 tcctaaactt attagaaaat tttatatact tttttacatg ttggggggca gaaggtaaag
     1981 ccatgttttg acttggtgaa aatgggattg tcaaacagcc cattaagttc cctggtattt
     2041 caccttcctg tccatctgtc ccctccctcc ggtatacctt tatccctttg aaagggtgct
     2101 tgtacaattt gatatatttt attgaagagt tatctcttat tctgaattaa attaagcatt
     2161 tgttttattg cagtaaagtt tgtccaaact cacaa
//
