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SOX18: Wikis


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SRY (sex determining region Y)-box 18
Symbols SOX18; HLTS
External IDs OMIM601618 MGI103559 HomoloGene7546 GeneCards: SOX18 Gene
RNA expression pattern
PBB GE SOX18 219568 x at tn.png
More reference expression data
Species Human Mouse
Entrez 54345 20672
Ensembl ENSG00000203883 ENSMUSG00000046470
UniProt P35713 Q3UND6
RefSeq (mRNA) NM_018419 NM_009236
RefSeq (protein) NP_060889 NP_033262
Location (UCSC) Chr 20:
62.15 - 62.15 Mb
Chr 2:
181.6 - 181.6 Mb
PubMed search [1] [2]

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

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.[2]


See also


SOX18 has been shown to interact with MEF2C.[3]


  1. ^ Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M (Jul 2000). "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". J Hum Genet 45 (3): 192–5. doi:10.1007/s100380050210. PMID 10807548.  
  2. ^ a b "Entrez Gene: SOX18 SRY (sex determining region Y)-box 18".  
  3. ^ Hosking, B M; Wang S C, Chen S L, Penning S, Koopman P, Muscat G E (Sep. 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun. (United States) 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. ISSN 0006-291X. PMID 11554755.  

Further reading

  • Wilson M, Koopman P (2003). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators.". Curr. Opin. Genet. Dev. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.  
  • Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.". Dev. Cell 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.  
  • Denny P, Swift S, Brand N, et al. (1992). "A conserved family of genes related to the testis determining gene, SRY.". Nucleic Acids Res. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMID 1614875.  
  • Dunn TL, Mynett-Johnson L, Wright EM, et al. (1995). "Sequence and expression of Sox-18 encoding a new HMG-box transcription factor.". Gene 161 (2): 223–5. doi:10.1016/0378-1119(95)00280-J. PMID 7665083.  
  • Stanojcić S, Stevanović M (2000). "The human SOX18 gene: cDNA cloning and high resolution mapping.". Biochim. Biophys. Acta 1492 (1): 237–41. PMID 10858556.  
  • Pennisi DJ, James KM, Hosking B, et al. (2001). "Structure, mapping, and expression of human SOX18.". Mamm. Genome 11 (12): 1147–9. doi:10.1007/s003350010216. PMID 11130989.  
  • Hosking BM, Wang SC, Chen SL, et al. (2001). "SOX18 directly interacts with MEF2C in endothelial cells.". Biochem. Biophys. Res. Commun. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.  
  • Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences.". J. Biol. Chem. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.  
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.  
  • Saitoh T, Katoh M (2003). "Expression of human SOX18 in normal tissues and tumors.". Int. J. Mol. Med. 10 (3): 339–44. PMID 12165811.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Irrthum A, Devriendt K, Chitayat D, et al. (2003). "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.". Am. J. Hum. Genet. 72 (6): 1470–8. doi:10.1086/375614. PMID 12740761.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • García-Ramírez M, Martínez-González J, Juan-Babot JO, et al. (2006). "Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth.". Arterioscler. Thromb. Vasc. Biol. 25 (11): 2398–403. doi:10.1161/01.ATV.0000187464.81959.23. PMID 16179596.  
  • Young N, Hahn CN, Poh A, et al. (2006). "Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development.". J. Natl. Cancer Inst. 98 (15): 1060–7. doi:10.1093/jnci/djj299. PMID 16882943.  

External links

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



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