SOX18

SRY (sex determining region Y)-box 18
Identifiers
Symbols	SOX18 ; HLTS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 7546
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SOX18 219568 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

SRY (sex determining region Y)-box 18, also known as SOX18, is a human gene.

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.

See also

• SOX genes

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. 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. PMID 12194848.CS1 maint: Multiple names: authors list (link)
• 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. PMID 1614875.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7665083.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Azuma T, Seki N, Yoshikawa T; et al. (2000). "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". J. Hum. Genet. 45 (3): 192–5. PMID 10807548.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11130989.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12740761.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• SOX18+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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