MSX2_HUMAN
ID MSX2_HUMAN Reviewed; 267 AA.
AC P35548; D3DQN1; Q53XM4; Q9UD60;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 208.
DE RecName: Full=Homeobox protein MSX-2;
DE AltName: Full=Homeobox protein Hox-8;
GN Name=MSX2; Synonyms=HOX8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT THR-129.
RC TISSUE=Osteoblast;
RX PubMed=8101453; DOI=10.1016/0167-4781(93)90086-s;
RA Hodgkinson J.E., Davidson C.L., Beresford J., Sharpe P.T.;
RT "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3
RT in bone cells.";
RL Biochim. Biophys. Acta 1174:11-16(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CRS2 HIS-148, AND VARIANT
RP THR-129.
RX PubMed=8106171; DOI=10.1016/0092-8674(93)90379-5;
RA Jabs E.W., Ma L., Li X., Mueller U., Sparkes R.S., Luo W., Jackson C.E.,
RA Warman M.L., Mulliken J.B., Snead M., Haworth I., Maxson R.E.;
RT "A mutation in the homeodomain of the human MSX2 gene in a family affected
RT with autosomal dominant craniosynostosis.";
RL Cell 75:443-450(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT THR-129.
RX PubMed=7897272; DOI=10.5357/koubyou.61.590;
RA Iimura T.;
RT "Molecular cloning and expression of homeobox-containing genes during hard
RT tissue development.";
RL Kokubyo Gakkai Zasshi 61:590-604(1994).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Tooth;
RX PubMed=9522127; DOI=10.3109/10425179709020891;
RA Iimura T., Takeda K., Goseki M., Maruoka Y., Sasaki S., Oida S.;
RT "Characterization of two length cDNA for human MSX-2 from dental pulp-
RT derived cells.";
RL DNA Seq. 8:87-92(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-129.
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT THR-129.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-129.
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 96-267, AND VARIANT THR-129.
RC TISSUE=Ovary tumor;
RX PubMed=7687426; DOI=10.1006/bbrc.1993.1802;
RA Suzuki M., Tanaka M., Iwase T., Naito Y., Sugimura H., Kino I.;
RT "Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox
RT gene, in human tumors.";
RL Biochem. Biophys. Res. Commun. 194:187-193(1993).
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 150-188.
RC TISSUE=Bone marrow;
RX PubMed=7518789; DOI=10.1016/0378-1119(94)90380-8;
RA Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M.,
RA D'Andrea R.;
RT "Identification of homeobox genes expressed in human haemopoietic
RT progenitor cells.";
RL Gene 144:213-219(1994).
RN [11]
RP FUNCTION, INTERACTION WITH XRCC6 AND XRCC5, AND MUTAGENESIS OF THR-147.
RC TISSUE=Osteoblast;
RX PubMed=12145306; DOI=10.1074/jbc.m206482200;
RA Willis D.M., Loewy A.P., Charlton-Kachigian N., Shao J.-S., Ornitz D.M.,
RA Towler D.A.;
RT "Regulation of osteocalcin gene expression by a novel Ku antigen
RT transcription factor complex.";
RL J. Biol. Chem. 277:37280-37291(2002).
RN [12]
RP INVOLVEMENT IN PFMCCD.
RX PubMed=14571277; DOI=10.1038/sj.ejhg.5201062;
RA Garcia-Minaur S., Mavrogiannis L.A., Rannan-Eliya S.V., Hendry M.A.,
RA Liston W.A., Porteous M.E.M., Wilkie A.O.M.;
RT "Parietal foramina with cleidocranial dysplasia is caused by mutation in
RT MSX2.";
RL Eur. J. Hum. Genet. 11:892-895(2003).
RN [13]
RP VARIANTS PFM1 PRO-154 AND HIS-172.
RX PubMed=10767351; DOI=10.1093/hmg/9.8.1251;
RA Wuyts W., Reardon W., Preis S., Homfray T., Rasore-Quartino A.,
RA Christians H., Willems P.J., Van Hul W.;
RT "Identification of mutations in the MSX2 homeobox gene in families affected
RT with foramina parietalia permagna.";
RL Hum. Mol. Genet. 9:1251-1255(2000).
RN [14]
RP VARIANTS PFM1 159-ARG-LYS-160 DEL AND HIS-172, AND VARIANT THR-129.
RX PubMed=10742103; DOI=10.1038/74224;
RA Wilkie A.O.M., Tang Z., Elanko N., Walsh S., Twigg S.R.F., Hurst J.A.,
RA Wall S.A., Chrzanowska K.H., Maxson R.E. Jr.;
RT "Functional haploinsufficiency of the human homeobox gene MSX2 causes
RT defects in skull ossification.";
RL Nat. Genet. 24:387-390(2000).
RN [15]
RP VARIANT CRS2 LEU-148.
RX PubMed=23918290; DOI=10.1002/ajmg.a.36077;
RA Janssen A., Hosen M.J., Jeannin P., Coucke P.J., De Paepe A.,
RA Vanakker O.M.;
RT "Second family with the Boston-type craniosynostosis syndrome: novel
RT mutation and expansion of the clinical spectrum.";
RL Am. J. Med. Genet. A 161A:2352-2357(2013).
RN [16]
RP VARIANT CRS2 LEU-148.
RX PubMed=23949913; DOI=10.1002/ajmg.a.36126;
RA Florisson J.M., Verkerk A.J., Huigh D., Hoogeboom A.J., Swagemakers S.,
RA Kremer A., Heijsman D., Lequin M.H., Mathijssen I.M., van der Spek P.J.;
RT "Boston type craniosynostosis: report of a second mutation in MSX2.";
RL Am. J. Med. Genet. A 161:2626-2633(2013).
CC -!- FUNCTION: Acts as a transcriptional regulator in bone development.
CC Represses the ALPL promoter activity and antagonizes the stimulatory
CC effect of DLX5 on ALPL expression during osteoblast differentiation.
CC Probable morphogenetic role. May play a role in limb-pattern formation.
CC In osteoblasts, suppresses transcription driven by the osteocalcin FGF
CC response element (OCFRE). Binds to the homeodomain-response element of
CC the ALPL promoter. {ECO:0000269|PubMed:12145306}.
CC -!- SUBUNIT: Interacts with MINT (By similarity). Interacts with XRCC6
CC (Ku70) and XRCC5 (Ku80). {ECO:0000250, ECO:0000269|PubMed:12145306}.
CC -!- INTERACTION:
CC P35548; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-6447480, EBI-10171570;
CC P35548; O95833: CLIC3; NbExp=3; IntAct=EBI-6447480, EBI-10192241;
CC P35548; G5E9A7: DMWD; NbExp=3; IntAct=EBI-6447480, EBI-10976677;
CC P35548; O15197-2: EPHB6; NbExp=3; IntAct=EBI-6447480, EBI-10182490;
CC P35548; O75593: FOXH1; NbExp=3; IntAct=EBI-6447480, EBI-1759806;
CC P35548; P23769: GATA2; NbExp=3; IntAct=EBI-6447480, EBI-2806671;
CC P35548; P31274: HOXC9; NbExp=3; IntAct=EBI-6447480, EBI-1779423;
CC P35548; P42858: HTT; NbExp=12; IntAct=EBI-6447480, EBI-466029;
CC P35548; Q96PV6: LENG8; NbExp=3; IntAct=EBI-6447480, EBI-739546;
CC P35548; P28482: MAPK1; NbExp=3; IntAct=EBI-6447480, EBI-959949;
CC P35548; Q8NDC0: MAPK1IP1L; NbExp=3; IntAct=EBI-6447480, EBI-741424;
CC P35548; Q96HR8: NAF1; NbExp=3; IntAct=EBI-6447480, EBI-2515597;
CC P35548; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-6447480, EBI-11022007;
CC P35548; P78337: PITX1; NbExp=3; IntAct=EBI-6447480, EBI-748265;
CC P35548; P28069: POU1F1; NbExp=3; IntAct=EBI-6447480, EBI-8673859;
CC P35548; P09086-4: POU2F2; NbExp=3; IntAct=EBI-6447480, EBI-12918396;
CC P35548; P78424: POU6F2; NbExp=3; IntAct=EBI-6447480, EBI-12029004;
CC P35548; Q9NZ81: PRR13; NbExp=3; IntAct=EBI-6447480, EBI-740924;
CC P35548; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-6447480, EBI-11987469;
CC P35548; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-6447480, EBI-372094;
CC P35548; Q01974: ROR2; NbExp=3; IntAct=EBI-6447480, EBI-6422642;
CC P35548; Q8WU79: SMAP2; NbExp=3; IntAct=EBI-6447480, EBI-2822515;
CC P35548; P35711-4: SOX5; NbExp=3; IntAct=EBI-6447480, EBI-11954419;
CC P35548; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-6447480, EBI-5235340;
CC P35548; Q9NQB0-10: TCF7L2; NbExp=3; IntAct=EBI-6447480, EBI-11746252;
CC P35548; Q8NEK8: TENT5D; NbExp=3; IntAct=EBI-6447480, EBI-744726;
CC P35548; Q08117-2: TLE5; NbExp=3; IntAct=EBI-6447480, EBI-11741437;
CC P35548; O43711: TLX3; NbExp=3; IntAct=EBI-6447480, EBI-3939165;
CC P35548; Q9H0E2: TOLLIP; NbExp=3; IntAct=EBI-6447480, EBI-74615;
CC P35548; Q86WV8: TSC1; NbExp=3; IntAct=EBI-6447480, EBI-12806590;
CC P35548; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-6447480, EBI-3918381;
CC P35548; Q14119: VEZF1; NbExp=3; IntAct=EBI-6447480, EBI-11980193;
CC P35548; Q9BYJ9: YTHDF1; NbExp=3; IntAct=EBI-6447480, EBI-1051237;
CC P35548; Q96K80: ZC3H10; NbExp=3; IntAct=EBI-6447480, EBI-742550;
CC P35548; Q15911-2: ZFHX3; NbExp=3; IntAct=EBI-6447480, EBI-10237226;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- DISEASE: Parietal foramina 1 (PFM1) [MIM:168500]: Autosomal dominant
CC disease characterized by oval defects of the parietal bones caused by
CC deficient ossification around the parietal notch, which is normally
CC obliterated during the fifth fetal month. {ECO:0000269|PubMed:10742103,
CC ECO:0000269|PubMed:10767351}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Parietal foramina with cleidocranial dysplasia (PFMCCD)
CC [MIM:168550]: Combines skull defects in the form of enlarged parietal
CC foramina and deficient ossification of the clavicles.
CC {ECO:0000269|PubMed:14571277}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Craniosynostosis 2 (CRS2) [MIM:604757]: A primary abnormality
CC of skull growth involving premature fusion of one or more cranial
CC sutures. The growth velocity of the skull often cannot match that of
CC the developing brain resulting in an abnormal head shape and, in some
CC cases, increased intracranial pressure, which must be treated promptly
CC to avoid permanent neurodevelopmental disability. CRS2 is characterized
CC by either fronto-orbital recession, or frontal bossing, or
CC turribrachycephaly, or cloverleaf skull. Associated features include
CC severe headache, high incidence of visual problems (myopia or
CC hyperopia), and short first metatarsals. Intelligence is normal.
CC {ECO:0000269|PubMed:23918290, ECO:0000269|PubMed:23949913,
CC ECO:0000269|PubMed:8106171}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Msh homeobox family. {ECO:0000305}.
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DR EMBL; X69295; CAA49156.1; -; mRNA.
DR EMBL; L22499; AAB42178.1; -; Genomic_DNA.
DR EMBL; L22498; AAB42178.1; JOINED; Genomic_DNA.
DR EMBL; S75308; AAD14169.1; -; Genomic_DNA.
DR EMBL; S75361; AAB33867.1; -; mRNA.
DR EMBL; D31771; BAA06549.1; -; mRNA.
DR EMBL; D89377; BAA13949.1; -; mRNA.
DR EMBL; BT009814; AAP88816.1; -; mRNA.
DR EMBL; AC117531; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW61381.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW61382.1; -; Genomic_DNA.
DR EMBL; BC015509; AAH15509.1; -; mRNA.
DR EMBL; D14970; BAA03611.1; -; mRNA.
DR CCDS; CCDS4392.1; -.
DR PIR; A49068; A49068.
DR RefSeq; NP_002440.2; NM_002449.4.
DR AlphaFoldDB; P35548; -.
DR SMR; P35548; -.
DR BioGRID; 110594; 58.
DR IntAct; P35548; 46.
DR STRING; 9606.ENSP00000239243; -.
DR iPTMnet; P35548; -.
DR PhosphoSitePlus; P35548; -.
DR BioMuta; MSX2; -.
DR DMDM; 311033429; -.
DR EPD; P35548; -.
DR jPOST; P35548; -.
DR MassIVE; P35548; -.
DR MaxQB; P35548; -.
DR PaxDb; P35548; -.
DR PeptideAtlas; P35548; -.
DR PRIDE; P35548; -.
DR ProteomicsDB; 55080; -.
DR Antibodypedia; 905; 406 antibodies from 31 providers.
DR DNASU; 4488; -.
DR Ensembl; ENST00000239243.7; ENSP00000239243.5; ENSG00000120149.9.
DR GeneID; 4488; -.
DR KEGG; hsa:4488; -.
DR MANE-Select; ENST00000239243.7; ENSP00000239243.5; NM_002449.5; NP_002440.2.
DR UCSC; uc003mcy.4; human.
DR CTD; 4488; -.
DR DisGeNET; 4488; -.
DR GeneCards; MSX2; -.
DR GeneReviews; MSX2; -.
DR HGNC; HGNC:7392; MSX2.
DR HPA; ENSG00000120149; Tissue enhanced (parathyroid gland, placenta, urinary bladder).
DR MalaCards; MSX2; -.
DR MIM; 123101; gene.
DR MIM; 168500; phenotype.
DR MIM; 168550; phenotype.
DR MIM; 604757; phenotype.
DR neXtProt; NX_P35548; -.
DR OpenTargets; ENSG00000120149; -.
DR Orphanet; 1541; Craniosynostosis, Boston type.
DR Orphanet; 60015; Enlarged parietal foramina.
DR Orphanet; 251290; Parietal foramina with clavicular hypoplasia.
DR PharmGKB; PA31197; -.
DR VEuPathDB; HostDB:ENSG00000120149; -.
DR eggNOG; KOG0492; Eukaryota.
DR GeneTree; ENSGT00940000159824; -.
DR HOGENOM; CLU_072675_0_0_1; -.
DR InParanoid; P35548; -.
DR OMA; MSPTACT; -.
DR OrthoDB; 1226077at2759; -.
DR PhylomeDB; P35548; -.
DR TreeFam; TF350699; -.
DR PathwayCommons; P35548; -.
DR Reactome; R-HSA-8939902; Regulation of RUNX2 expression and activity.
DR SignaLink; P35548; -.
DR SIGNOR; P35548; -.
DR BioGRID-ORCS; 4488; 11 hits in 1089 CRISPR screens.
DR ChiTaRS; MSX2; human.
DR GeneWiki; Msh_homeobox_2; -.
DR GenomeRNAi; 4488; -.
DR Pharos; P35548; Tbio.
DR PRO; PR:P35548; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; P35548; protein.
DR Bgee; ENSG00000120149; Expressed in placenta and 111 other tissues.
DR ExpressionAtlas; P35548; baseline and differential.
DR Genevisible; P35548; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; ISS:UniProtKB.
DR GO; GO:0090427; P:activation of meiosis; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0061312; P:BMP signaling pathway involved in heart development; IEA:Ensembl.
DR GO; GO:0060346; P:bone trabecula formation; IEA:Ensembl.
DR GO; GO:0060444; P:branching involved in mammary gland duct morphogenesis; IEA:Ensembl.
DR GO; GO:0003161; P:cardiac conduction system development; NAS:BHF-UCL.
DR GO; GO:0071392; P:cellular response to estradiol stimulus; IEA:Ensembl.
DR GO; GO:0002063; P:chondrocyte development; IEA:Ensembl.
DR GO; GO:0060363; P:cranial suture morphogenesis; TAS:BHF-UCL.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl.
DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl.
DR GO; GO:0048598; P:embryonic morphogenesis; IBA:GO_Central.
DR GO; GO:0035880; P:embryonic nail plate morphogenesis; IEA:Ensembl.
DR GO; GO:0070166; P:enamel mineralization; IEA:Ensembl.
DR GO; GO:0003416; P:endochondral bone growth; IEA:Ensembl.
DR GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; IEA:Ensembl.
DR GO; GO:0060364; P:frontal suture morphogenesis; IEA:Ensembl.
DR GO; GO:0097152; P:mesenchymal cell apoptotic process; IEA:Ensembl.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0032792; P:negative regulation of CREB transcription factor activity; IEA:Ensembl.
DR GO; GO:0045599; P:negative regulation of fat cell differentiation; IEA:Ensembl.
DR GO; GO:0045617; P:negative regulation of keratinocyte differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; ISS:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0002076; P:osteoblast development; IEA:Ensembl.
DR GO; GO:0001649; P:osteoblast differentiation; ISS:UniProtKB.
DR GO; GO:0003148; P:outflow tract septum morphogenesis; IEA:Ensembl.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; IEA:Ensembl.
DR GO; GO:2001055; P:positive regulation of mesenchymal cell apoptotic process; IEA:Ensembl.
DR GO; GO:0045669; P:positive regulation of osteoblast differentiation; IEA:Ensembl.
DR GO; GO:0051795; P:positive regulation of timing of catagen; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
DR GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl.
DR GO; GO:0035313; P:wound healing, spreading of epidermal cells; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Craniosynostosis; Developmental protein; Disease variant; DNA-binding;
KW Homeobox; Nucleus; Osteogenesis; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..267
FT /note="Homeobox protein MSX-2"
FT /id="PRO_0000049099"
FT DNA_BIND 142..201
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..71
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 116..147
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 129
FT /note="M -> T (in dbSNP:rs4242182)"
FT /evidence="ECO:0000269|PubMed:10742103,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7687426,
FT ECO:0000269|PubMed:7897272, ECO:0000269|PubMed:8101453,
FT ECO:0000269|PubMed:8106171, ECO:0000269|Ref.5,
FT ECO:0000269|Ref.7"
FT /id="VAR_010898"
FT VARIANT 148
FT /note="P -> H (in CRS2; gain of function;
FT dbSNP:rs104893895)"
FT /evidence="ECO:0000269|PubMed:8106171"
FT /id="VAR_003755"
FT VARIANT 148
FT /note="P -> L (in CRS2; dbSNP:rs104893895)"
FT /evidence="ECO:0000269|PubMed:23918290,
FT ECO:0000269|PubMed:23949913"
FT /id="VAR_071634"
FT VARIANT 154
FT /note="L -> P (in PFM1)"
FT /evidence="ECO:0000269|PubMed:10767351"
FT /id="VAR_010786"
FT VARIANT 159..160
FT /note="Missing (in PFM1; loss of function)"
FT /evidence="ECO:0000269|PubMed:10742103"
FT /id="VAR_010200"
FT VARIANT 172
FT /note="R -> H (in PFM1; loss of function;
FT dbSNP:rs104893896)"
FT /evidence="ECO:0000269|PubMed:10742103,
FT ECO:0000269|PubMed:10767351"
FT /id="VAR_010201"
FT MUTAGEN 147
FT /note="T->A: Does not bind DNA but still suppresses OCFRE
FT activation."
FT /evidence="ECO:0000269|PubMed:12145306"
FT CONFLICT 28
FT /note="P -> L (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 32
FT /note="E -> A (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 62..65
FT /note="ASPL -> SPAV (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 67
FT /note="A -> P (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 69
FT /note="S -> G (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 75
FT /note="T -> H (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 85
FT /note="G -> R (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 107
FT /note="E -> G (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 194
FT /note="R -> S (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
FT CONFLICT 237
FT /note="G -> A (in Ref. 1; CAA49156)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 267 AA; 28897 MW; 5B61B75F4A7C4AFD CRC64;
MASPSKGNDL FSPDEEGPAV VAGPGPGPGG AEGAAEERRV KVSSLPFSVE ALMSDKKPPK
EASPLPAESA SAGATLRPLL LSGHGAREAH SPGPLVKPFE TASVKSENSE DGAAWMQEPG
RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT TSQLLALERK FRQKQYLSIA ERAEFSSSLN
LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPSSF SLPFPISSPL QAASIYGASY
PFHRPVLPIP PVGLYATPVG YGMYHLS
