Msh homeobox 2

Msh homeobox 2
PDB rendering based on 1ig7.
Available structures PDB 1ig7
Identifiers
Symbols	MSX2; CRS2; FPP; HOX8; MSH; PFM; PFM1
External IDs	OMIM: 123101 MGI: 97169 HomoloGene: 1837 GeneCards: MSX2 Gene
Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity • protein binding • sequence-specific DNA binding • transcription regulatory region DNA binding Cellular component • nucleus • cytoplasm Biological process • osteoblast differentiation • heart morphogenesis • multicellular organismal development • negative regulation of cell proliferation • embryonic limb morphogenesis • BMP signaling pathway • positive regulation of apoptosis • negative regulation of apoptosis • negative regulation of transcription, DNA-dependent • cranial suture morphogenesis • cellular response to growth factor stimulus • cellular response to estradiol stimulus • cellular response to protein stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4488	17702
Ensembl	ENSG00000120149	ENSMUSG00000021469
UniProt	P35548	Q3UZH5
RefSeq (mRNA)	NM_002449	NM_013601.2
RefSeq (protein)	NP_002440	NP_038629.2
Location (UCSC)	Chr 5: 174.15 – 174.16 Mb	Chr 13: 53.56 – 53.57 Mb
PubMed search	[1]	[2]

Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.^[1][2][3]

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.^[3]

Interactions

Msh homeobox 2 has been shown to interact with DLX5,^[4] DLX2^[4] and MSX1.^[4]

References

1. ^ Takahashi C, Akiyama N, Matsuzaki T, Takai S, Kitayama H, Noda M (Aug 1996). "Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene". Oncogene 12 (10): 2137–46. PMID 8668339. 
2. ^ Kostrzewa M, Grady DL, Moyzis RK, Floter L, Muller U (Sep 1996). "Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35". Hum Genet 97 (3): 399–403. doi:10.1007/BF02185781. PMID 8786091. 
3. ^ ^{a b} "Entrez Gene: MSX2 msh homeobox 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4488. 
4. ^ ^{a b c} Zhang, H; Hu G, Wang H, Sciavolino P, Iler N, Shen M M, Abate-Shen C (May. 1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Mol. Cell. Biol. (UNITED STATES) 17 (5): 2920–32. ISSN 0270-7306. PMC 232144. PMID 9111364. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=232144. 

Further reading

• Suzuki M, Tanaka M, Iwase T, et al. (1993). "Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors.". Biochem. Biophys. Res. Commun. 194 (1): 187–93. doi:10.1006/bbrc.1993.1802. PMID 7687426. 
• Semenza GL, Wang GL, Kundu R (1995). "DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2.". Biochem. Biophys. Res. Commun. 209 (1): 257–62. doi:10.1006/bbrc.1995.1497. PMID 7726844. 
• Iimura T (1995). "[Molecular cloning and expression of homeobox-containing genes during hard tissue development]". Kokubyo Gakkai Zasshi 61 (4): 590–604. PMID 7897272. 
• Hodgkinson JE, Davidson CL, Beresford J, Sharpe PT (1993). "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells.". Biochim. Biophys. Acta 1174 (1): 11–6. PMID 8101453. 
• Jabs EW, Müller U, Li X, et al. (1993). "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.". Cell 75 (3): 443–50. doi:10.1016/0092-8674(93)90379-5. PMID 8106171. 
• Ma L, Golden S, Wu L, Maxson R (1997). "The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.". Hum. Mol. Genet. 5 (12): 1915–20. doi:10.1093/hmg/5.12.1915. PMID 8968743. 
• Quinn LM, Johnson BV, Nicholl J, et al. (1997). "Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4.". Gene 187 (1): 55–61. doi:10.1016/S0378-1119(96)00706-8. PMID 9073066. 
• Zhang H, Hu G, Wang H, et al. (1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism.". Mol. Cell. Biol. 17 (5): 2920–32. PMC 232144. PMID 9111364. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=232144. 
• Wu L, Wu H, Ma L, et al. (1997). "Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA.". Mech. Dev. 65 (1-2): 3–17. doi:10.1016/S0925-4773(97)00032-4. PMID 9256341. 
• Newberry EP, Latifi T, Battaile JT, Towler DA (1997). "Structure-function analysis of Msx2-mediated transcriptional suppression.". Biochemistry 36 (34): 10451–62. doi:10.1021/bi971008x. PMID 9265625. 
• Stelnicki EJ, Kömüves LG, Holmes D, et al. (1997). "The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially expressed in the dermis and epidermis in fetal and adult skin.". Differentiation 62 (1): 33–41. doi:10.1046/j.1432-0436.1997.6210033.x. PMID 9373945. 
• Iimura T, Takeda K, Goseki M, et al. (1998). "Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells.". DNA Seq. 8 (1-2): 87–92. PMID 9522127. 
• Newberry EP, Latifi T, Towler DA (1999). "The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter.". Biochemistry 38 (33): 10678–90. doi:10.1021/bi990967j. PMID 10451362. 
• Wilkie AO, Tang Z, Elanko N, et al. (2000). "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.". Nat. Genet. 24 (4): 387–90. doi:10.1038/74224. PMID 10742103. 
• Wuyts W, Reardon W, Preis S, et al. (2000). "Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.". Hum. Mol. Genet. 9 (8): 1251–5. doi:10.1093/hmg/9.8.1251. PMID 10767351. 
• Quinn LM, Latham SE, Kalionis B (2000). "The homeobox genes MSX2 and MOX2 are candidates for regulating epithelial-mesenchymal cell interactions in the human placenta.". Placenta. 21 Suppl A: S50–4. doi:10.1053/plac.1999.0514. PMID 10831122. 
• Masuda Y, Sasaki A, Shibuya H, et al. (2001). "Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function.". J. Biol. Chem. 276 (7): 5331–8. doi:10.1074/jbc.M008590200. PMID 11084035. 
• Shirakabe K, Terasawa K, Miyama K, et al. (2002). "Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5.". Genes Cells 6 (10): 851–6. doi:10.1046/j.1365-2443.2001.00466.x. PMID 11683913. 

External links

• GeneReviews/NCBI/UW/NIH entry on Enlarged Parietal Foramina/Cranium Bifidum
• MeSH MSX2+protein,+human

This article incorporates text from the United States National Library of Medicine, which is in the public domain.