SOX18

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[5][6]

SOX18
Identifiers
Aliases	SOX18, HLTS, HLTRS, SRY-box 18, SRY-box transcription factor 18
External IDs	OMIM: 601618 MGI: 103559 HomoloGene: 7546 GeneCards: SOX18
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 64,047,582 bp[1] End 64,049,639 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 103.71 cM Start 181,669,836 bp[2] End 181,671,640 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • protein heterodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • nuclear chromatin • cell 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 • cell differentiation Sources:Amigo / QuickGO
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: 64.05 – 64.05 Mb	Chr 2: 181.67 – 181.67 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 (HLTS).[7][6] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).[8][9]

Interactions

SOX18 has been shown to interact with MEF2C.[10]

See also

• SOX genes

References

1. GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000046470 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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". Journal of Human Genetics. 45 (3): 192–5. doi:10.1007/s100380050210. PMID 10807548.
6. "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
7. Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E (May 2018). "Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)". European Journal of Medical Genetics. 61 (5): 269–272. doi:10.1016/j.ejmg.2018.01.001. PMID 29307792.
8. Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D (April 2015). "Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene". Clinical Genetics. 87 (4): 378–82. doi:10.1111/cge.12388. PMID 24697860.
9. "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences.
10. Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.

Further reading

• Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
• Schepers GE, Teasdale RD, Koopman P (August 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental 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 (June 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 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 (August 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 (June 2000). "The human SOX18 gene: cDNA cloning and high resolution mapping". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1492 (1): 237–41. doi:10.1016/s0167-4781(00)00078-6. PMID 10858556.
• Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P (December 2000). "Structure, mapping, and expression of human SOX18". Mammalian Genome. 11 (12): 1147–9. doi:10.1007/s003350010216. PMID 11130989.
• Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
• Dintilhac A, Bernués J (March 2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". The Journal of Biological Chemistry. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
• Saitoh T, Katoh M (September 2002). "Expression of human SOX18 in normal tissues and tumors". International Journal of Molecular Medicine. 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 (June 2003). "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia". American Journal of Human Genetics. 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 (November 2005). "Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth". Arteriosclerosis, Thrombosis, and Vascular Biology. 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 (August 2006). "Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development". Journal of the National Cancer Institute. 98 (15): 1060–7. doi:10.1093/jnci/djj299. PMID 16882943.
• Olbromski M, Podhorska-Okołów M, Dzięgiel P. (2018). "Role of the SOX18 protein in neoplastic processes". Oncology Letters. 16 (2): 1383–89. doi:10.3892/ol.2018.8819. PMC 6036441. PMID 30008814.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.