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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)
End	64,049,639 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	181,313,433 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	54345
	20672
	ENSG00000203883
	ENSMUSG00000046470
	P35713
	P43680
	NM_018419
	NM_009236
	NP_060889
	NP_033262
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function[edit]

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[edit]

SOX18 has been shown to interact with:

MEF2C^[10]

RBPJ^[11]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046470 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
^ 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.
^ 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. S2CID 32417398.
^ "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences.
^ 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.
^ Overman J, Fontaine F, Wylie-Sears J, Moustaqil M, Huang L, Meurer M, et al. (July 2019). "R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma". eLife. 8: e43026. doi:10.7554/eLife.43026. PMC 6667216. PMID 31358114.

External links[edit]

SOX18+protein,+human at the U.S. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10807548-5] 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.

[entrez-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. S2CID 32417398.

[9] "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences.

[pmid11554755-10] 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.

[11] Overman J, Fontaine F, Wylie-Sears J, Moustaqil M, Huang L, Meurer M, et al. (July 2019). "R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma". eLife. 8: e43026. doi:10.7554/eLife.43026. PMC 6667216. PMID 31358114.

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