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2025-05-09 16:54:43, 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 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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