Gene Symbol: Sox18
Description: SRY box 18
Alias: transcription factor SOX-18, SRY (sex determining region Y)-box 18, SRY-box containing gene 18
Species: rat
Products:     Sox18

Top Publications

  1. Hosking B, Francois M, Wilhelm D, Orsenigo F, Caprini A, Svingen T, et al. Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice. Development. 2009;136:2385-91 pubmed publisher
    ..Mutations in Sox18 cause a variable phenotype in the human congenital syndrome hypotrichosis-lymphedema-telangiectasia, and the ..
  2. Hosking B, Wang S, Downes M, Koopman P, Muscat G. The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18. J Biol Chem. 2004;279:5314-22 pubmed
    VCAM-1 (vascular cell adhesion molecule-1) and Sox18 are involved in vascular development...
  3. Downes M, Francois M, Ferguson C, Parton R, Koopman P. Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet. 2009;18:2839-50 pubmed publisher
    Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome...
  4. Young N, Hahn C, Poh A, Dong C, Wilhelm D, Olsson J, et al. Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development. J Natl Cancer Inst. 2006;98:1060-7 pubmed
    ..The SOX18 transcription factor is a key regulator of murine and human blood vessel formation...
  5. Matsui T, Kanai Azuma M, Hara K, Matoba S, Hiramatsu R, Kawakami H, et al. Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice. J Cell Sci. 2006;119:3513-26 pubmed
    Sox7, Sox17 and Sox18 constitute group F of the Sox family of HMG box transcription factor genes. Dominant-negative mutations in Sox18 underlie the cardiovascular defects observed in ragged mutant mice...
  6. Sakamoto Y, Hara K, Kanai Azuma M, Matsui T, Miura Y, Tsunekawa N, et al. Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos. Biochem Biophys Res Commun. 2007;360:539-44 pubmed
    ..Here we characterized cardiovascular phenotypes of Sox17/Sox18-double and Sox17-single null embryos during early-somite stages...
  7. Fontijn R, Volger O, Fledderus J, Reijerkerk A, de Vries H, Horrevoets A. SOX-18 controls endothelial-specific claudin-5 gene expression and barrier function. Am J Physiol Heart Circ Physiol. 2008;294:H891-900 pubmed
  8. Pennisi D, Gardner J, Chambers D, Hosking B, Peters J, Muscat G, et al. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice. Nat Genet. 2000;24:434-7 pubmed
    ..We previously mapped Sox18, encoding an SRY-related transcription factor, to distal mouse chromosome 2...
  9. Hosking B, Wang S, Chen S, Penning S, Koopman P, Muscat G. SOX18 directly interacts with MEF2C in endothelial cells. Biochem Biophys Res Commun. 2001;287:493-500 pubmed
    Recently, we demonstrated that mutations in the Sry-related HMG box gene Sox18 underlie vascular and hair follicle defects in the mouse allelic mutants ragged (Ra) and RaJ...

More Information


  1. Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen P, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet. 2003;72:1470-8 pubmed
    ..VEGFR3 and FOXC2 as causative genes; we then considered the murine ragged phenotype, caused by mutations in the Sox18 transcription factor, as a likely counterpart to the human disease, because it presents a combination of hair and ..
  2. Francois M, Caprini A, Hosking B, Orsenigo F, Wilhelm D, Browne C, et al. Sox18 induces development of the lymphatic vasculature in mice. Nature. 2008;456:643-7 pubmed publisher
    ..4). Defects in the transcription factor gene SOX18 (SRY (sex determining region Y) box 18) cause lymphatic dysfunction in the human syndrome hypotrichosis-..
  3. Pennisi D, Bowles J, Nagy A, Muscat G, Koopman P. Mice null for sox18 are viable and display a mild coat defect. Mol Cell Biol. 2000;20:9331-6 pubmed
    We have previously shown that Sox18 is expressed in developing vascular endothelium and hair follicles during mouse embryogenesis and that point mutations in Sox18 are the underlying cause of cardiovascular and hair follicle defects in ..
  4. Wallace M. Analysis of genetic control of chylous ascites in ragged mice. Heredity (Edinb). 1979;43:9-18 pubmed
    ..In neonates the male sex is more liable to chylous ascites, and in adults this condition affects fertility and fecundity. ..
  5. Swailes N, Colegrave M, Knight P, Peckham M. Non-muscle myosins 2A and 2B drive changes in cell morphology that occur as myoblasts align and fuse. J Cell Sci. 2006;119:3561-70 pubmed
  6. Ng C, Li N, Chee S, Prabhakar S, Kolatkar P, Jauch R. Deciphering the Sox-Oct partner code by quantitative cooperativity measurements. Nucleic Acids Res. 2012;40:4933-41 pubmed publisher
    ..In contrast, Sox17 and Sox4 cooperate more strongly on the compressed than on the canonical element. Sox5 and Sox18 show some cooperation on both elements, whereas Sox8 and Sox9 compete on both elements...
  7. Serrano A, Gandillet A, Pearson S, Lacaud G, Kouskoff V. Contrasting effects of Sox17- and Sox18-sustained expression at the onset of blood specification. Blood. 2010;115:3895-8 pubmed publisher
    ..Here, we assessed, using embryonic stem cell differentiation as a model system, whether Sox17 and Sox18, 2 close homologs of Sox7, may act similarly to Sox7 at the onset of hematopoietic development...
  8. Hwang C, Wu X, Wang G, Kim C, Loh H. Mouse mu opioid receptor distal promoter transcriptional regulation by SOX proteins. J Biol Chem. 2003;278:3742-50 pubmed
    ..These data indicate that SOX proteins might contribute to the transcriptional activity of the mor gene and suggest that mu opioid receptor could mediate some of the developmental processes in which SOX proteins are included. ..
  9. Hosking B, Wyeth J, Pennisi D, Wang S, Koopman P, Muscat G. Cloning and functional analysis of the Sry-related HMG box gene, Sox18. Gene. 2001;262:239-47 pubmed
    ..We initially published the identification and partial cDNA sequence of murine Sox18, a new member of this gene family, isolated from a cardiac cDNA library...
  10. Hoeth M, Niederleithner H, Hofer Warbinek R, Bilban M, Mayer H, Resch U, et al. The transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cells. PLoS ONE. 2012;7:e30982 pubmed publisher
    Mutations in the transcription factor SOX18 are responsible for specific cardiovascular defects in humans and mice...
  11. Hosking B, Muscat G, Koopman P, Dowhan D, Dunn T. Trans-activation and DNA-binding properties of the transcription factor, Sox-18. Nucleic Acids Res. 1995;23:2626-8 pubmed
    ..Furthermore, Sox-18 was capable of trans-activating gene expression through the AACAAA motif. Our results suggest that Sox-18 functions as a classical trans-activator of gene expression. ..