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2019-03-25 09:02:52, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002449               2224 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens msh homeobox 2 (MSX2), mRNA.
ACCESSION   NM_002449
VERSION     NM_002449.4  GI:84452153
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 2224)
  AUTHORS   Jeong,H.M., Jin,Y.H., Choi,Y.H., Yum,J., Choi,J.K., Yeo,C.Y. and
            Lee,K.Y.
  TITLE     PKC signaling inhibits osteogenic differentiation through the
            regulation of Msx2 function
  JOURNAL   Biochim. Biophys. Acta 1823 (8), 1225-1232 (2012)
   PUBMED   22633971
  REMARK    GeneRIF: PKC signaling modulates osteoblast differentiation, at
            least in part, through the regulation of Msx2.
REFERENCE   2  (bases 1 to 2224)
  AUTHORS   Ott,C.E., Hein,H., Lohan,S., Hoogeboom,J., Foulds,N., Grunhagen,J.,
            Stricker,S., Villavicencio-Lorini,P., Klopocki,E. and Mundlos,S.
  TITLE     Microduplications upstream of MSX2 are associated with a phenocopy
            of cleidocranial dysplasia
  JOURNAL   J. Med. Genet. 49 (7), 437-441 (2012)
   PUBMED   22717651
  REMARK    GeneRIF: The pathogenic effect of the microduplications can best be
            explained by a misregulation of spatiotemporal MSX2 expression
            patterns in cleidocranial dysplasia.
REFERENCE   3  (bases 1 to 2224)
  AUTHORS   Wu,Q., Yang,Y., Wu,X., Zhao,C., Cong,L., Ruan,B. and Zhang,J.
  TITLE     [Expression and significance of Msx2 and topo II-alpha in sinonasal
            inverted papilloma]
  JOURNAL   Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 26 (8), 343-346
            (2012)
   PUBMED   22730815
  REMARK    GeneRIF: Msx2 and topo II-alpha may play an important role in the
            occurrence and development of sinonasal inverted papilloma.
REFERENCE   4  (bases 1 to 2224)
  AUTHORS   Sun,C.X., Zhang,L.K., Feng,X.X. and Zhao,Z.H.
  TITLE     [Changes in the expression of Dlx5, Msx2, and Dlx5/Msx2 in hPDLSCs
            loaded with cyclic tensile stress]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 42 (6), 823-826 (2011)
   PUBMED   22332551
  REMARK    GeneRIF: Cyclic tensile stress may induce differentiation of
            periodontal ligament stem cells towards mineralized tissue cells by
            promoting Dlx5 mRNA expression and decreasing Msx2 expression.
REFERENCE   5  (bases 1 to 2224)
  AUTHORS   Gremel,G., Ryan,D., Rafferty,M., Lanigan,F., Hegarty,S.,
            Lavelle,M., Murphy,I., Unwin,L., Joyce,C., Faller,W.,
            McDermott,E.W., Sheahan,K., Ponten,F. and Gallagher,W.M.
  TITLE     Functional and prognostic relevance of the homeobox protein MSX2 in
            malignant melanoma
  JOURNAL   Br. J. Cancer 105 (4), 565-574 (2011)
   PUBMED   21730974
  REMARK    GeneRIF: MSX2 may be an important regulator of melanoma cell
            invasion and survival. Cytoplasmic expression of the protein was
            identified as biomarker for good prognosis in malignant melanoma.
REFERENCE   6  (bases 1 to 2224)
  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 2224)
  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 2224)
  AUTHORS   Jabs,E.W., Muller,U., Li,X., Ma,L., Luo,W., Haworth,I.S.,
            Klisak,I., Sparkes,R., Warman,M.L., Mulliken,J.B. et al.
  TITLE     A mutation in the homeodomain of the human MSX2 gene in a family
            affected with autosomal dominant craniosynostosis
  JOURNAL   Cell 75 (3), 443-450 (1993)
   PUBMED   8106171
REFERENCE   9  (bases 1 to 2224)
  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   10 (bases 1 to 2224)
  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
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 Jan 5, 2006 this sequence version replaced gi:27886556.
            
            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].
            
            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 :: D89377.1, D26145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AL552909.3         1-32
            33-467              AC117531.2         99288-99722
            468-1170            AC117531.2         103843-104545
            1171-1401           W38629.1           23-253
            1402-2174           AC117531.2         104777-105549
            2175-2224           D89377.1           2150-2199
FEATURES             Location/Qualifiers
     source          1..2224
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.2"
     gene            1..2224
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="msh homeobox 2"
                     /db_xref="GeneID:4488"
                     /db_xref="HGNC:7392"
                     /db_xref="HPRD:00421"
                     /db_xref="MIM:123101"
     exon            1..467
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /inference="alignment:Splign:1.39.8"
     variation       4
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373735781"
     variation       33
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113874536"
     variation       39
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371076863"
     variation       41
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191789843"
     variation       72
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:4647952"
     misc_feature    74..76
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="upstream in-frame stop codon"
     CDS             89..892
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="msh homeo box 2; homeobox protein Hox-8; msh
                     homeobox homolog 2"
                     /codon_start=1
                     /product="homeobox protein MSX-2"
                     /protein_id="NP_002440.2"
                     /db_xref="GI:27886557"
                     /db_xref="CCDS:CCDS4392.1"
                     /db_xref="GeneID:4488"
                     /db_xref="HGNC:7392"
                     /db_xref="HPRD:00421"
                     /db_xref="MIM:123101"
                     /translation="
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASYPFHRPVLPIPPVGLYATPVGYGMYHLS
"
     misc_feature    515..691
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(515..529,533..535,584..586,602..604,641..643,
                     647..652,659..664,668..676,680..685)
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(521..523,530..532,650..652,659..664,671..673)
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       96
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201724372"
     variation       111
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367636705"
     variation       118
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371794345"
     variation       188
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34093690"
     variation       205
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376630472"
     variation       242
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:35902803"
     variation       343
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367614252"
     variation       353..354
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="gc"
                     /replace="ta"
                     /db_xref="dbSNP:121912971"
     STS             393..584
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="Msx2"
                     /db_xref="UniSTS:516407"
     STS             396..628
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="Msx2"
                     /db_xref="UniSTS:531526"
     variation       426
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367897914"
     variation       433
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:121912972"
     STS             459..519
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="Msx2"
                     /db_xref="UniSTS:498394"
     variation       461
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372131169"
     exon            468..2208
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /inference="alignment:Splign:1.39.8"
     STS             473..892
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="PMC164857P2"
                     /db_xref="UniSTS:271526"
     variation       474
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4242182"
     variation       475
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:186769394"
     variation       523
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189666650"
     variation       531
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893895"
     variation       532
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200762790"
     STS             567..1379
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="MSX2_1676"
                     /db_xref="UniSTS:277511"
     variation       570
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200519800"
     variation       603
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104893896"
     variation       610
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370893406"
     variation       654
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:61743524"
     variation       679
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150352201"
     variation       684
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199732800"
     variation       692
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:182690432"
     variation       701
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111542301"
     variation       771
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373857075"
     variation       786
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138053303"
     variation       787
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201880865"
     variation       810
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368570722"
     variation       811
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201103544"
     variation       814
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371825159"
     variation       831
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:61739543"
     variation       837
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374244313"
     variation       841
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61739546"
     variation       877
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199856192"
     variation       897
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368747209"
     variation       907
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372223571"
     STS             932..1050
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /standard_name="SHGC-11995"
                     /db_xref="UniSTS:63973"
     variation       938
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375964205"
     variation       967
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369125868"
     variation       1049
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17063878"
     variation       1058
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3087539"
     variation       1078
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3087537"
     variation       1113
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3087538"
     variation       1149
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187794452"
     polyA_signal    1166..1171
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
     polyA_site      1187
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
     variation       1197
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143672195"
     variation       1241
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114567531"
     variation       1255
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376258231"
     variation       1258
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:193163747"
     variation       1308
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:10038500"
     variation       1358
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148083483"
     variation       1402
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2381939"
     variation       1455
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143924110"
     variation       1478
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185029831"
     variation       1490
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189138878"
     variation       1527
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192627117"
     variation       1550
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10044147"
     variation       1580
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184884082"
     variation       1615
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:115604243"
     variation       1673
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188468287"
     variation       1696
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:180684930"
     variation       1759
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34342523"
     variation       1889..1890
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:59205443"
     variation       1899
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:74292295"
     variation       1942
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184931219"
     variation       1956
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189444818"
     variation       1972..1973
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:145784193"
     variation       2017
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:14459"
     variation       2038
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2890848"
     variation       2068
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2890849"
     variation       2070
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182072112"
     variation       2081
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146501739"
     variation       2098
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77229212"
     variation       2116
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373056463"
     variation       2141
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139249455"
     variation       2142
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143253235"
     polyA_signal    2156..2161
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
     polyA_site      2187
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
     variation       2199..2200
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
                     /replace=""
                     /replace="gct"
                     /db_xref="dbSNP:200120254"
     polyA_site      2208
                     /gene="MSX2"
                     /gene_synonym="CRS2; FPP; HOX8; MSH; PFM; PFM1"
ORIGIN      
tcccgtctccgcagcaaaaaagtttgagtcgccgctgccgggttgccagcggagtcgcgcgtcgggagctacgtagggcagagaagtcatggcttctccgtccaaaggcaatgacttgttttcgcccgacgaggagggcccagcagtggtggccggaccaggcccggggcctgggggcgccgagggggccgcggaggagcgccgcgtcaaggtctccagcctgcccttcagcgtggaggcgctcatgtccgacaagaagccgcccaaggaggcgtccccgctgccggccgaaagcgcctcggccggggccaccctgcggccactgctgctgtcggggcacggcgctcgggaagcgcacagccccgggccgctggtgaagcccttcgagaccgcctcggtcaagtcggaaaattcagaagatggagcggcgtggatgcaggaacccggccgatattcgccgccgccaagacatatgagccctaccacctgcaccctgaggaaacacaagaccaatcggaagccgcgcacgccctttaccacatcccagctcctcgccctggagcgcaagttccgtcagaaacagtacctctccattgcagagcgtgcagagttctccagctctctgaacctcacagagacccaggtcaaaatctggttccagaaccgaagggccaaggcgaaaagactgcaggaggcagaactggaaaagctgaaaatggctgcaaaacctatgctgccctccagcttcagtctccctttccccatcagctcgcccctgcaggcagcgtccatatatggagcatcctacccgttccatagacctgtgcttcccatcccgcctgtgggactctatgccacgccagtgggatatggcatgtaccacctgtcctaaggaagaccagatcaatagactccatgatggatgcttgtttcaaagggtttcctctccctctccacgaaggcagtaccagccagtactcctgctctgctaaccctgcgtgcaccaccctaagcggctaggctgacagggccacacgacatagctgaaatttgttctgtaggcggaggcaccaagccctgttttcttggtgtaatcttccagatgcccccttttcctttcacaaagattggctctgatggtttttatgtataaatatatatatataataaaatataatacatttttatacagcagacgtaaaaattcaaattattttaaaaggcaaaatttatatacatatgtgctttttttctatatctcaccttcccaaaagacactgtgtaagtccatttgttgtattttcttaaagagggagacaaattatttgcaaaatgtgctaaagtcaatgatttttacgggattattgacttctgcttatggaaaacaaagaaacagacacaatgcacacagaaaatattagatatggagagattattcaaagtgaaggggacacatcatatttctgcattttacttgcattaaaagaaacctctttatatactacagttgttcctatctctcccccgccccccaccgccccaccacacacatatttttaaagtttttccttttttaagaatatttttgtaagaccaatacctgggatgagaagaatcctgagactgcctggaggtgaggtagaaaattagaaatacttcctaattcttctcaaggctgttggtaactttatttcagataattggagagtaaaatgttaaaacctgttgagaggaattgatggtttctgagaaatactaggtacattcatcctcacagattgcaaaggtgatttgggtgggggtttagtaattttctgcttaaaaaatgagtatcttgtaaccattacctatatgctaaatattcttgaacaattagtagatccagaaagaaaaaaaaatatgctttctctgtgtgtgtacctgttgtatgtcctaaacttattagaaaattttatatacttttttacatgttggggggcagaaggtaaagccatgttttgacttggtgaaaatgggattgtcaaacagcccattaagttccctggtatttcaccttcctgtccatctgtcccctccctccggtatacctttatccctttgaaagggtgcttgtacaatttgatatattttattgaagagttatctcttattctgaattaaattaagcatttgttttattgcagtaaagtttgtccaaactcacaattaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4488 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: IEA
            GeneID:4488 -> Molecular function: GO:0000982 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:4488 -> Molecular function: GO:0003712 [transcription cofactor activity] evidence: ISS
            GeneID:4488 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:4488 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IEA
            GeneID:4488 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA
            GeneID:4488 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: ISS
            GeneID:4488 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:4488 -> Biological process: GO:0001649 [osteoblast differentiation] evidence: ISS
            GeneID:4488 -> Biological process: GO:0002063 [chondrocyte development] evidence: IEA
            GeneID:4488 -> Biological process: GO:0002076 [osteoblast development] evidence: IEA
            GeneID:4488 -> Biological process: GO:0003148 [outflow tract septum morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0003416 [endochondral bone growth] evidence: IEA
            GeneID:4488 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
            GeneID:4488 -> Biological process: GO:0023019 [signal transduction involved in regulation of gene expression] evidence: IEA
            GeneID:4488 -> Biological process: GO:0030513 [positive regulation of BMP signaling pathway] evidence: IEA
            GeneID:4488 -> Biological process: GO:0032792 [negative regulation of CREB transcription factor activity] evidence: IEA
            GeneID:4488 -> Biological process: GO:0035115 [embryonic forelimb morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0035116 [embryonic hindlimb morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0035313 [wound healing, spreading of epidermal cells] evidence: IEA
            GeneID:4488 -> Biological process: GO:0035880 [embryonic nail plate morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0042640 [anagen] evidence: IEA
            GeneID:4488 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IEA
            GeneID:4488 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
            GeneID:4488 -> Biological process: GO:0045599 [negative regulation of fat cell differentiation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0045617 [negative regulation of keratinocyte differentiation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0045669 [positive regulation of osteoblast differentiation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS
            GeneID:4488 -> Biological process: GO:0051795 [positive regulation of catagen] evidence: IEA
            GeneID:4488 -> Biological process: GO:0060346 [bone trabecula formation] evidence: IEA
            GeneID:4488 -> Biological process: GO:0060363 [cranial suture morphogenesis] evidence: TAS
            GeneID:4488 -> Biological process: GO:0060364 [frontal suture morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0060444 [branching involved in mammary gland duct morphogenesis] evidence: IEA
            GeneID:4488 -> Biological process: GO:0061312 [BMP signaling pathway involved in heart development] evidence: IEA
            GeneID:4488 -> Biological process: GO:0070166 [enamel mineralization] evidence: IEA
            GeneID:4488 -> Biological process: GO:0071363 [cellular response to growth factor stimulus] evidence: IEA
            GeneID:4488 -> Biological process: GO:0071392 [cellular response to estradiol stimulus] evidence: IEA
            GeneID:4488 -> Biological process: GO:2000678 [negative regulation of transcription regulatory region DNA binding] evidence: ISS
            GeneID:4488 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:4488 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
            GeneID:4488 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA

by @meso_cacase at DBCLS
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