SOX18

SOX18
Identifiers
AliasesSOX18, HLTS, HLTRS, SRY-box 18
External IDsMGI: 103559 HomoloGene: 7546 GeneCards: SOX18
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q13.33Start64,047,582 bp[1]
End64,049,641 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 2: 181.67 – 181.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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.[6]

Interactions

SOX18 has been shown to interact with MEF2C.[7]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046470 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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". J. Hum. Genet. 45 (3): 192–5. doi:10.1007/s100380050210. PMID 10807548.
  6. 1 2 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
  7. ↑ 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.

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