SOX18

SRY (sex determining region Y)-box 18
Identifiers
Symbol(s)	SOX18; HLTS
External IDs	OMIM: 601618 MGI: 103559 Homologene: 7546
Gene ontology Molecular Function: • transcription factor activity • RNA polymerase II transcription factor activity Cellular Component: • nucleus Biological Process: • transcription • regulation of transcription from RNA polymerase II promoter
RNA expression pattern
250px More reference expression data
Orthologs
	Human	Mouse
Entrez	54345	20672
Ensembl	ENSG00000203883	ENSMUSG00000046470
Uniprot	P35713	Q3UND6
Refseq	NM_018419 (mRNA) NP_060889 (protein)	NM_009236 (mRNA) NP_033262 (protein)
Location	Chr 20: 62.15 - 62.15 Mb	Chr 2: 181.6 - 181.6 Mb
Pubmed search	[1]	[2]

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.
• 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.
• 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.
• 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.
• 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.
• 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. 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

• MeSH SOX18+protein,+human

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