SOX18 explained

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.^{[1] [2]}

Function

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (HLTS).^[3] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).^{[4] [5]}

Interactions

SOX18 has been shown to interact with:

MEF2C^[6]

RBPJ^[7]

See also

• SOX genes

Further reading

• Wilson M, Koopman P . Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators . Current Opinion in Genetics & Development . 12 . 4 . 441–6 . August 2002 . 12100890 . 10.1016/S0959-437X(02)00323-4 .
• Schepers GE, Teasdale RD, Koopman P . Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families . Developmental Cell . 3 . 2 . 167–70 . August 2002 . 12194848 . 10.1016/S1534-5807(02)00223-X . free .
• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A . A conserved family of genes related to the testis determining gene, SRY . Nucleic Acids Research . 20 . 11 . 2887 . June 1992 . 1614875 . 336939 . 10.1093/nar/20.11.2887 .
• Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GE . Sequence and expression of Sox-18 encoding a new HMG-box transcription factor . Gene . 161 . 2 . 223–5 . August 1995 . 7665083 . 10.1016/0378-1119(95)00280-J .
• Stanojcić S, Stevanović M . The human SOX18 gene: cDNA cloning and high resolution mapping . Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression . 1492 . 1 . 237–41 . June 2000 . 10858556 . 10.1016/s0167-4781(00)00078-6 .
• Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P . Structure, mapping, and expression of human SOX18 . Mammalian Genome . 11 . 12 . 1147–9 . December 2000 . 11130989 . 10.1007/s003350010216 . 11826232 .
• Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE . SOX18 directly interacts with MEF2C in endothelial cells . Biochemical and Biophysical Research Communications . 287 . 2 . 493–500 . September 2001 . 11554755 . 10.1006/bbrc.2001.5589 .
• Dintilhac A, Bernués J . HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences . The Journal of Biological Chemistry . 277 . 9 . 7021–8 . March 2002 . 11748221 . 10.1074/jbc.M108417200 . free . 10261/112516 . free .
• Saitoh T, Katoh M . Expression of human SOX18 in normal tissues and tumors . International Journal of Molecular Medicine . 10 . 3 . 339–44 . September 2002 . 12165811 . 10.3892/ijmm.10.3.339 .
• Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M . Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia . American Journal of Human Genetics . 72 . 6 . 1470–8 . June 2003 . 12740761 . 1180307 . 10.1086/375614 .
• García-Ramírez M, Martínez-González J, Juan-Babot JO, Rodríguez C, Badimon L . Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth . Arteriosclerosis, Thrombosis, and Vascular Biology . 25 . 11 . 2398–403 . November 2005 . 16179596 . 10.1161/01.ATV.0000187464.81959.23 . free .
• Young N, Hahn CN, Poh A, Dong C, Wilhelm D, Olsson J, Muscat GE, Parsons P, Gamble JR, Koopman P . Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development . Journal of the National Cancer Institute . 98 . 15 . 1060–7 . August 2006 . 16882943 . 10.1093/jnci/djj299 . free .
• Olbromski M, Podhorska-Okołów M, Dzięgiel P. . Role of the SOX18 protein in neoplastic processes. . Oncology Letters . 2018 . 16 . 2 . 1383–89 . 10.3892/ol.2018.8819 . 30008814. 6036441 .

Notes and References

1. Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M . cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18 . Journal of Human Genetics . 45 . 3 . 192–5 . July 2000 . 10807548 . 10.1007/s100380050210 . free .
2. Web site: Entrez Gene: SO X18 SRY (sex determining region Y)-box 18.
3. Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E . Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS) . European Journal of Medical Genetics . 61 . 5 . 269–272 . May 2018 . 29307792 . 10.1016/j.ejmg.2018.01.001 .
4. Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D . Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene . Clinical Genetics . 87 . 4 . 378–82 . April 2015 . 24697860 . 10.1111/cge.12388 . 32417398 .
5. Web site: Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome . The University of Arizona Health Sciences.
6. Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE . SOX18 directly interacts with MEF2C in endothelial cells . Biochemical and Biophysical Research Communications . 287 . 2 . 493–500 . September 2001 . 11554755 . 10.1006/bbrc.2001.5589 .
7. Overman J, Fontaine F, Wylie-Sears J, Moustaqil M, Huang L, Meurer M, Chiang IK, Lesieur E, Patel J, Zuegg J, Pasquier E, Sierecki E, Gambin Y, Hamdan M, Khosrotehrani K, Andelfinger G, Bischoff J, Francois M . 6 . R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma . eLife . 8 . e43026 . July 2019 . 31358114 . 6667216 . 10.7554/eLife.43026 . free .