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FLASH GENE
Symbol SOX18 contributors: mct - updated : 21-03-2015
HGNC name SRY (sex determining region Y)-box 18
HGNC id 11194
Corresponding disease
HLTS hypotrichosis-lymphedema-telangiectasia syndrome
Location 20q13.33      Physical location : 62.679.080 - 62.680.979
Synonym name
  • transcription factor SOX-18
  • Synonym symbol(s) SX18, HLTS
    DNA
    TYPE functioning gene
    STRUCTURE 1.90 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C20orf41 20q13.3 chromosome 20 open reading frame 41 TNFRSF6B 20q13.3 tumor necrosis factor receptor superfamily, member 6b, decoy ARFRP1 20q13.3 ADP-ribosylation factor related protein 1 KIAA1847 20q13.3 KIAA1847 FLJ20406 20q13.3 hypothetical protein FLJ20406 SLC2A4RG 20q13.33 SLC2A4 regulator FLJ20825 20q13.33 hypothetical protein FLJ20825 C20orf135 20q13.33 chromosome 20 open reading frame 135 TPD52L2 20q13.2-q13.3 tumor protein D52-like 2 LOC388808 20 LOC388808 URKL1 20q13.33 uridine kinase-like 1 KIAA1196 20q13.33 KIAA1196 protein C20orf136 20q13.33 chromosome 20 open reading frame 136 C20orf14 20q13.33 chromosome 20 open reading frame 14 LOC284739 20q13.33 hypothetical protein LOC284739 SOX18 20q13.33 SRY (sex determining region Y)-box 18 TCEA2 20q13 transcription elongation factor A (SII), 2 RGS19 20q13.3 regulator of G-protein signalling 19 OPRL1 20p11.2 opiate receptor-like 1 LOC391262 20 similar to salivary proline-rich protein GPR8 20q13.3 G protein-coupled receptor 8 MYT1 20q13.33 myelin transcription factor 1 C20orf36 20q13.33 chromosome 20 open reading frame 36 LOC388809 20 similar to bA476I15.3 (novel protein similar to septin)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1718 - 384 - 2007 17603017
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartventricle  predominantly
    Digestiveintestinesmall intestinejejunum  
     liver    
     stomach   highly
    Lymphoid/Immunespleen    
    Nervousnervecranial nerve  highly
    Reproductivefemale systemplacenta  highly
     female systemovary  highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal high-mobility group DNA binding and a central transactivation domain
  • a 9AA transactivation motif that mediates the interaction with the transcriptional cofactor TAF9 and with general co-factors
  • a C-terminal region of unknown function with three blocks that are highly conserved within a subgroup of the Sox family, and the central so-called charged block comprises an additional strong transactivating domain.
  • HOMOLOGY
    interspecies homolog to murine Sox18
    homolog to C.elegans k08a8.2
    Homologene
    FAMILY SRY-related HMG box family of transcription factors
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the transactivation of transcription
  • involved in vascular cell growth and this transcription factor may play a role in atherosclerosis
  • involved in the development or function of blood vessels, the lymphatic system and hair follicles (Downes 2009)
  • critical role for SOX18 in the maturation rather than the early modeling of the blood vasculature (Downes 2009)
  • acts as a transcriptional activator of genes required for vascular structural integrity and the recruitment of pericytes to developing blood vessels (Downes 2009)
  • plays a role in angiogenesis, including lymphangiogenesis, where it is upregulated by growth factors and directs the expression of genes encoding, e.g., guidance molecules and a matrix metalloproteinase
  • FIGF -mitogen-activated protein kinase kinase-extracellular signal-regulated kinase signaling modulates SOX18-mediated transcription, functioning at least in part by enhancing nuclear concentration and transcriptional activity in vascular endothelial cells
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the 5'-AACAAAG-3' consensus sequence
    RNA
    small molecule
    protein
  • interacting with CLDN5 (SOX18 involved in the regulation of CLDN5 gene expression in an endothelial-specific and cell density-dependent manner, play a nonredundant role in the formation of the endothelial barrier) (Fontijn 2008)
  • SOX18 is a novel target gene regulated by EGR1 transcription factor, thus providing the first functional link between two transcription factors previously shown to be involved in the control of angiogenesis
  • MMP7 is a direct SOX18 target gene as well as other potential candidates including guidance molecules
  • TNF-induced down-regulation of SOX18 in endothelial cells is dependent on NFKB
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLTS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sox18/Vegfd double but not single knockout mice displayed dramatic vascular development defects