SOX18

Protein-coding gene in the species Homo sapiens
SOX18
Identifiers
AliasesSOX18, HLTS, HLTRS, SRY-box 18, SRY-box transcription factor 18
External IDsOMIM: 601618; MGI: 103559; HomoloGene: 7546; GeneCards: SOX18; OMA:SOX18 - orthologs
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]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for SOX18
Genomic location for SOX18
Band2 H4|2 103.71 cMStart181,311,629 bp[2]
End181,313,433 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • apex of heart

  • right lung

  • left uterine tube

  • right auricle

  • right lobe of thyroid gland

  • left ventricle

  • right coronary artery

  • gastric mucosa

  • body of uterus

  • left coronary artery
Top expressed in
  • interventricular septum

  • glomerular capillary

  • right lung

  • endothelial cell of lymphatic vessel

  • left lung

  • right lung lobe

  • external carotid artery

  • left lung lobe

  • lactiferous gland

  • internal carotid artery
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • sequence-specific DNA binding
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • protein heterodimerization activity
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • 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 by RNA polymerase II
  • in utero embryonic development
  • negative regulation of transcription by RNA polymerase II
  • 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 by RNA polymerase II
  • cell differentiation
Sources:Amigo / QuickGO
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: 181.31 – 181.31 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 (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]

RBPJ[11]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203883 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
  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.

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. S2CID 11826232.
  • 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. hdl:10261/112516. 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

External links

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

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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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