SOX18

SOX18
Identifiers
Aliases	SOX18, HLTS, HLTRS, SRY-box 18
External IDs	MGI: 103559 HomoloGene: 7546 GeneCards: SOX18
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • protein heterodimerization activity • transcription regulatory region DNA binding • RNA polymerase II transcription factor activity, sequence-specific DNA binding Cellular component • nuclear transcription factor complex • nuclear chromatin • nucleus Biological process • hair follicle development • establishment of endothelial barrier • hair cycle process • regulation of transcription, DNA-templated • stem cell fate specification • lymphangiogenesis • blood vessel endothelial cell migration • lymphatic endothelial cell differentiation • endocardium formation • outflow tract morphogenesis • mRNA transcription from RNA polymerase II promoter • in utero embryonic development • negative regulation of transcription from RNA polymerase II promoter • cell maturation • endocardial cell differentiation • lymph vessel development • transcription, DNA-templated • embryonic heart tube development • vasculogenesis • positive regulation of transcription, DNA-templated • heart looping • heart development • vasculature development • blood vessel development • angiogenesis • negative regulation of transcription, DNA-templated • regulation of stem cell proliferation • positive regulation of transcription from RNA polymerase II promoter 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_060889.1	NP_033262.2
Location (UCSC)	Chr 20: 64.05 – 64.05 Mb	Chr 2: 181.67 – 181.67 Mb
PubMed search	[1]	[2]
Wikidata

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Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.^[3][4]

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.^[4]

Interactions

SOX18 has been shown to interact with MEF2C.^[5]

See also

• SOX genes

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M (July 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.
4. "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18". line feed character in |title= at position 16 (help)
5. Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 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.

Further reading

• Wilson M, Koopman P (2002). "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, Dabhade N, Barton P, Ashworth A (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, Hosking BM, Koopman PA, Muscat GE (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. doi:10.1016/s0167-4781(00)00078-6. PMID 10858556.
• Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P (2000). "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, Penning S, Koopman P, Muscat GE (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.
• Saitoh T, Katoh M (2002). "Expression of human SOX18 in normal tissues and tumors". Int. J. Mol. Med. 10 (3): 339–44. doi:10.3892/ijmm.10.3.339. PMID 12165811.
• Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M (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.
• García-Ramírez M, Martínez-González J, Juan-Babot JO, Rodríguez C, Badimon L (2005). "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, Dong C, Wilhelm D, Olsson J, Muscat GE, Parsons P, Gamble JR, Koopman P (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.