SOX18

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
SOX18
Identifiers
AliasesSOX18, HLTS, HLTRS, SRY-box 18
External IDsMGI: 103559 HomoloGene: 7546 GeneCards: SOX18
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for SOX18
Genomic location for SOX18
Band20q13.33Start64,047,582 bp[1]
End64,049,639 bp[1]
RNA expression pattern
PBB GE SOX18 219568 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018419

NM_009236

RefSeq (protein)

NP_060889

NP_033262

Location (UCSC)Chr 20: 64.05 – 64.05 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[4][5]

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).[6][5] 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).[7][8]

Interactions[edit]

SOX18 has been shown to interact with MEF2C.[9]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:".
  3. ^ "Mouse PubMed Reference:".
  4. ^ 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.
  5. ^ a b "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
  6. ^ 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.
  7. ^ 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.
  8. ^ "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences.
  9. ^ 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[edit]

External links[edit]

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