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SOX18 (SRY-box 18)

Identity

Alias_namesSRY (sex determining region Y)-box 18
SRY box 18
Other aliasHLTRS
HLTS
HGNC (Hugo) SOX18
LocusID (NCBI) 54345
Atlas_Id 52574
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 64047726 and ends at 64049626 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SOX18   11194
Cards
Entrez_Gene (NCBI)SOX18  54345  SRY-box 18
AliasesHLTRS; HLTS
GeneCards (Weizmann)SOX18
Ensembl hg19 (Hinxton)ENSG00000203883 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203883 [Gene_View]  chr20:64047726-64049626 [Contig_View]  SOX18 [Vega]
ICGC DataPortalENSG00000203883
TCGA cBioPortalSOX18
AceView (NCBI)SOX18
Genatlas (Paris)SOX18
WikiGenes54345
SOURCE (Princeton)SOX18
Genetics Home Reference (NIH)SOX18
Genomic and cartography
GoldenPath hg38 (UCSC)SOX18  -     chr20:64047726-64049626 -  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX18  -     20q13.33   [Description]    (hg19-Feb_2009)
EnsemblSOX18 - 20q13.33 [CytoView hg19]  SOX18 - 20q13.33 [CytoView hg38]
Mapping of homologs : NCBISOX18 [Mapview hg19]  SOX18 [Mapview hg38]
OMIM137940   601618   607823   
Gene and transcription
Genbank (Entrez)AB033888 AF086136 AF270652 AJ243896 BC035513
RefSeq transcript (Entrez)NM_018419
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOX18
Cluster EST : UnigeneHs.8619 [ NCBI ]
CGAP (NCI)Hs.8619
Alternative Splicing GalleryENSG00000203883
Gene ExpressionSOX18 [ NCBI-GEO ]   SOX18 [ EBI - ARRAY_EXPRESS ]   SOX18 [ SEEK ]   SOX18 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54345
GTEX Portal (Tissue expression)SOX18
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35713   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35713  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35713
Splice isoforms : SwissVarP35713
PhosPhoSitePlusP35713
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)    SOX_C (PS51516)   
Domains : Interpro (EBI)HMG_box_dom    Sox7/17/18_central    Sox_C   
Domain families : Pfam (Sanger)HMG_box (PF00505)    Sox17_18_mid (PF12067)   
Domain families : Pfam (NCBI)pfam00505    pfam12067   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX18
DMDM Disease mutations54345
Blocks (Seattle)SOX18
SuperfamilyP35713
Human Protein AtlasENSG00000203883
Peptide AtlasP35713
HPRD07208
IPIIPI00020428   
Protein Interaction databases
DIP (DOE-UCLA)P35713
IntAct (EBI)P35713
FunCoupENSG00000203883
BioGRIDSOX18
STRING (EMBL)SOX18
ZODIACSOX18
Ontologies - Pathways
QuickGOP35713
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  angiogenesis  vasculogenesis  in utero embryonic development  hair follicle development  vasculature development  lymphangiogenesis  heart looping  outflow tract morphogenesis  nucleus  hair cycle process  embryonic heart tube development  mRNA transcription from RNA polymerase II promoter  blood vessel endothelial cell migration  transcription regulatory region DNA binding  nuclear transcription factor complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  cell maturation  stem cell fate specification  endocardium formation  lymphatic endothelial cell differentiation  endocardial cell differentiation  establishment of endothelial barrier  regulation of stem cell proliferation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  angiogenesis  vasculogenesis  in utero embryonic development  hair follicle development  vasculature development  lymphangiogenesis  heart looping  outflow tract morphogenesis  nucleus  hair cycle process  embryonic heart tube development  mRNA transcription from RNA polymerase II promoter  blood vessel endothelial cell migration  transcription regulatory region DNA binding  nuclear transcription factor complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  cell maturation  stem cell fate specification  endocardium formation  lymphatic endothelial cell differentiation  endocardial cell differentiation  establishment of endothelial barrier  regulation of stem cell proliferation  
NDEx NetworkSOX18
Atlas of Cancer Signalling NetworkSOX18
Wikipedia pathwaysSOX18
Orthology - Evolution
OrthoDB54345
GeneTree (enSembl)ENSG00000203883
Phylogenetic Trees/Animal Genes : TreeFamSOX18
HOVERGENP35713
HOGENOMP35713
Homologs : HomoloGeneSOX18
Homology/Alignments : Family Browser (UCSC)SOX18
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX18
dbVarSOX18
ClinVarSOX18
1000_GenomesSOX18 
Exome Variant ServerSOX18
ExAC (Exome Aggregation Consortium)SOX18 (select the gene name)
Genetic variants : HAPMAP54345
Genomic Variants (DGV)SOX18 [DGVbeta]
DECIPHERSOX18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOX18 
Mutations
ICGC Data PortalSOX18 
TCGA Data PortalSOX18 
Broad Tumor PortalSOX18
OASIS PortalSOX18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOX18  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX18
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch SOX18
DgiDB (Drug Gene Interaction Database)SOX18
DoCM (Curated mutations)SOX18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX18 (select a term)
intoGenSOX18
Cancer3DSOX18(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137940    601618    607823   
Orphanet10936   
MedgenSOX18
Genetic Testing Registry SOX18
NextProtP35713 [Medical]
TSGene54345
GENETestsSOX18
Target ValidationSOX18
Huge Navigator SOX18 [HugePedia]
snp3D : Map Gene to Disease54345
BioCentury BCIQSOX18
ClinGenSOX18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54345
Chemical/Pharm GKB GenePA36031
Clinical trialSOX18
Miscellaneous
canSAR (ICR)SOX18 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX18
EVEXSOX18
GoPubMedSOX18
iHOPSOX18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:15:22 CEST 2017

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