SOX18

SRY (sex determining region Y)-box 18
Identifiers
Symbols	SOX18; HLTS
External IDs	OMIM: 601618 MGI: 103559 HomoloGene: 7546 GeneCards: SOX18 Gene
Gene Ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription • transcription regulatory region DNA binding Cellular component • nuclear chromatin • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • angiogenesis • vasculogenesis • in utero embryonic development • hair follicle development • vasculature development • lymphangiogenesis • heart looping • outflow tract morphogenesis • hair cycle process • embryonic heart tube development • mRNA transcription from RNA polymerase II promoter • blood vessel endothelial cell migration • negative regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter • cell maturation • stem cell fate specification • endocardium formation • lymphatic endothelial cell differentiation • endocardial cell differentiation • establishment of endothelial barrier • regulation of stem cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	54345	20672
Ensembl	ENSG00000203883	ENSMUSG00000046470
UniProt	P35713	P43680
RefSeq (mRNA)	NM_018419	NM_009236
RefSeq (protein)	NP_060889	NP_033262
Location (UCSC)	Chr 20: 62.68 – 62.68 Mb	Chr 2: 181.67 – 181.67 Mb
PubMed search	[1]	[2]

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 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

Interactions

SOX18 has been shown to interact with MEF2C.

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. PMC 336939. 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. PMC 139241. 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. PMC 1180307. 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. PMC 528928. 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

• 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.