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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOX18 Gene

protein-coding   GIFtS: 56
GCID: GC20M062679

SRY (sex determining region Y)-box 18
 Explore 8 diseases affiliated with
SOX18 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX18    

Aliases
for SOX18 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SRY (Sex Determining Region Y)-Box 181 2
HLTS2 5
SRY-Box 182
Transcription Factor SOX-182

External Ids:    HGNC: 111941   Entrez Gene: 543452   Ensembl: ENSG000002038837   OMIM: 6016185   UniProtKB: P357133   

Export aliases for SOX18 gene to outside databases

Previous GC identifers: GC20M062556 GC20M063358 GC20M063405 GC20M062059 GC20M062149 GC20M059413


Summaries
for SOX18 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SOX18:
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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713
Function: Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site (By
similarity)

Gene Wiki entry for SOX18


Genomic Views
for SOX18 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011333.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX18 gene promoter:
         AhR   AP-2beta   STAT3   AP-2gamma   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SOX18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

SOX18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX18 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M062679:  view genomic region     (about GC identifiers)

Start:
 62,679,076 bp from pter      End:
 62,680,994 bp from pter
Size:
 1,919 bases      Orientation:
 minus strand

Proteins
for SOX18 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713 (See protein sequence)
Recommended Name: Transcription factor SOX-18  
Size: 384 amino acids; 40891 Da
Subcellular location: Nucleus (Potential)
Caution: Was originally (PubMed:1614875) termed SOX-8
Secondary accessions: Q0VGA9 Q9NPH8

Explore the universe of human proteins at neXtProt for SOX18: NX_P35713

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35713

    • SOX18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060889.1  
    ENSEMBL proteins: 
     ENSP00000341815  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: SOX18
    OriGene Protein Over-expression Lysate: SOX18
    OriGene Custom Protein Services for SOX18 
    GenScript Custom Purified and Recombinant Proteins Services for SOX18
    Novus Biologicals SOX18 Protein
    Novus Biologicals SOX18 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SOX18

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005634nucleus IDA18065521


    SOX18 for ontologies           About GeneDecksing



    SOX18 Antibody Products: 
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    Abcam antibodies for SOX18 
    Uscn Antibodies for SOX18
    ThermoFisher Antibodies for SOX18

    Assay Products for SOX18: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SOX18
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SOX18

    Protein Domains /
    Families
    for SOX18 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX18 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     IPR021934 Sox_C_TAD

    Graphical View of Domain Structure for InterPro Entry P35713

    ProtoNet protein and cluster: P35713

    UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713
    Similarity: Contains 1 HMG box DNA-binding domain
    Similarity: Contains 1 Sox C-terminal domain


    Function
    for SOX18 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713
    Function: Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site (By
    similarity)

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SOX18
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX18
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX18 (see all 10):
    hsa-miR-548j hsa-miR-548w hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SOX18 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX18 (see all 7)
    OriGene shRNA RFP: SOX18
    OriGene siRNA: SOX18
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX18

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SOX18

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX18 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX18
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX18 (NM_018419)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX18 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOX18
    Search LifeMap BioReagents cell lines for SOX18

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SOX18

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding ----


    SOX18 for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Sox18):
     cardiovascular system  growth/size  homeostasis/metabolism  immune system  integument 
     mortality/aging  normal  pigmentation 

    SOX18 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SOX18 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOX18
        Molecular Mechanisms of Cancer


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX18

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for SOX18 (P357133 ENSP000003418154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEF2CQ064133, ENSP000003962194I2D: score=3 STRING: ENSP00000396219
    HMGB1P094293, ENSP000003430404I2D: score=1 STRING: ENSP00000343040
    MEF2DENSP000002715554STRING: ENSP00000271555
    GKAP1ENSP000003655504STRING: ENSP00000365550
    MECP2ENSP000003955354STRING: ENSP00000395535
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0001525angiogenesis IEP16882943
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis ISS--
    GO:0001701in utero embryonic development IEA--


    SOX18 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SOX18 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX18
    Search CenterWatch for drugs/clinical trials and news about SOX18 

    Transcripts
    for SOX18 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SOX18 gene: 
    NM_018419.2  

    Unigene Cluster for SOX18:

    SRY (sex determining region Y)-box 18
    Hs.8619  [show with all ESTs]
    Unigene Representative Sequence: BC111390
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000340356(uc002yhs.3)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: SOX18
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX18
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX18 (see all 10):
    hsa-miR-548j hsa-miR-548w hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SOX18 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX18 (see all 7)
    OriGene shRNA RFP: SOX18
    OriGene siRNA: SOX18
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX18
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX18 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX18
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX18 (NM_018419)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX18 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX18
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX18
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX18
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX18

    Additional cDNA sequence: 

    AB033888.1 AF270652.1 AJ243896.1 BC035513.1 BC038590.1 BC073971.1 BC111390.1 X65664.1 

    4 DOTS entries:

    DT.454862  DT.95168562  DT.100777269  DT.92424542 

    24/94 AceView cDNA sequences (see all 94):

    CR618677 BC035513 CR622805 CR603832 CD722552 NM_018419 CR620118 N75049 
    AJ243896 CR611852 BC038590 CR621620 BC073971 X65664 CR622272 CR601016 
    AL541885 AL546460 AI744846 BX359585 AF270652 AI672322 AI434831 BI818476 

    GeneLoc Exon Structure


    Expression
    for SOX18 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SOX18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACAGCCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SOX18 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LymphLymphatic VesselsLymphatic Endothelial CellsEndothelium
    HeartCardinal VeinsVenous Endothelial CellsEndothelium
    Lateral Plate MesodermEmbryonic Blood IslandsAngioblastsEndothelium
    Lateral Plate MesodermEmbryonic Capillary PlexusAngioblastsEndothelium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    KidneyInterstitial StromaInterstitial Stroma CellsKidney
    KidneyS-shaped BodyS-shaped Body CellsKidney
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Embryoid bodies (Generation of adipoc...)
    Definitive endoderm-like cells (A scalable, suspensi...)
    HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)Bone, Cartilage
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

    See SOX18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX18

    SOURCE GeneReport for Unigene cluster: Hs.8619
        SABiosciences Custom PCR Arrays for SOX18
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX18
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX18
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX18
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SOX18

    Orthologs
    for SOX18 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SOX18 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SOX181 SRY (sex determining region Y)-box 18 65.87(n)
    60.37(a)    		   374200  NM_204309.1  NP_989640.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SOX186
    		 --
    		 32(a)
    		 1 ↔ 1
    		 4(155430207-155440311)
    zebrafish
    (Danio rerio)    		 Actinopterygii sox181 SRY-box containing gene 18 61.05(n)
    61.62(a)    		   797246  XM_001337666.1  XP_001337702.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Sox153 DNA bending 51(a)   50E4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 24(a)
    		 possible ortholog
    		 X(3505427-3506378)


    ENSEMBL Gene Tree for SOX18 (if available)
    TreeFam Gene Tree for SOX18 (if available) 

    Paralogs
    for SOX18 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX18 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    2 SIMAP similar genes for SOX18 using alignment to 1 protein entry:     SOX18_HUMAN:
    SOX10    SOX17

    SOX18 for paralogs           About GeneDecksing



    Genomic Variants
    for SOX18 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/46 NCBI SNPs in SOX18 are shown (see all 46)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154301,2
    		Cpathogenic62679954(-) GACTGA/CGCGCT 2 * C stg10--------
    rs289366921,2
    		Cpathogenic62680560(-) GGCTGG/CCTCAG 2 /P /A mis11Minor allele frequency- C:0.00NA 2
    rs289366931,2
    		Cpathogenic62680587(-) TGGTGT/AGGGCA 2 /R /W mis11Minor allele frequency- A:0.00NA 2
    rs1450821651,2
    		--62678705(+) TCCGAC/TAGGCT 1 -- ds50010--------
    rs1468137641,2
    		--62678804(+) GTCACA/GGAAGG 1 -- ds50010--------
    rs123031,2
    		C,F,--62679146(-) CTTTGA/C/G/T 
                CCTTT     		3 -- ut312MN NA 304
    rs1140810801,2
    		C,F,--62679392(+) TGGCTC/TCTAGG 1 -- ut311Minor allele frequency- T:0.06WA 118
    rs1152203711,2
    		C,F,--62679437(+) GAGAGA/GGCAGA 1 -- ut311Minor allele frequency- G:0.06WA 118
    rs1835786541,2
    		--62679873(+) GCCTCC/TGCCAG 2 A syn10--------
    rs2000293311,2
    		--62680194(+) GCCTGC/TTTCTT 2 K syn10--------

    HapMap Linkage Disequilibrium report for SOX18 (62679076 - 62680994 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SOX18
         2 CNVs: 73578 4108
    Human Gene Mutation Database (HGMD): SOX18

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX18
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX18

    Disorders / Diseases
    for SOX18 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SOX18 for disorders           About GeneDecksing

    OMIM gene information: 601618   
    OMIM disorders: 607823  
    UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713
  • Defects in SOX18 are the cause of hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]

    • 8 diseases for SOX18:    About MalaCards
    lymphedema    hypotrichosis    klippel-trenaunay syndrome    hypotrichosis-lymphedema-telangiectasia syndrome
    yellow nail syndrome    telangiectasis    leiomyosarcoma    lung cancer

    6 diseases from the University of Copenhagen DISEASES database for SOX18:
    Lymphedema     Telangiectasis     Hypotrichosis     Meige syndrome
    Klippel-Trenaunay syndrome     Yellow nail syndrome

    9 Novoseek disease relationships for SOX18 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphedema 74.2 3 14634005 (1), 19289394 (1), 16379592 (1)
    klippel-trenaunay syndrome 65.4 1 16379592 (1)
    vascular anomaly 51.6 1 15905966 (1)
    pancreatic cancer 20.9 1 12165811 (1)
    breast cancer 16.2 2 12165811 (1), 16882943 (1)
    gastric cancer 12.2 1 12165811 (1)
    atherosclerosis 0 1 16179596 (1)
    tumors 0 10 17768012 (4), 12165811 (2), 16882943 (2)
    cancer 0 1 16882943 (1)

    Human Genome Epidemiology (HuGE) Navigator: SOX18 (2 documents)

    Export disorders for SOX18 gene to outside databases

    Publications
    for SOX18 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SOX18 gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with SOX18)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18. (PubMed id 10807548)1, 2, 3, 9 Azuma T.... Muramatsu M. (2000)
    2. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (PubMed id 12740761)1, 2, 9 Irrthum A.... Vikkula M. (2003)
    3. The human SOX18 gene: cDNA cloning and high resolution mapping. (PubMed id 10858556)1, 2, 9 Stanojcic S. and Stevanovic M. (2000)
    4. Structure, mapping, and expression of human SOX18. (PubMed id 11130989)1, 2, 9 Pennisi D.J.... Koopman P. (2000)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. A conserved family of genes related to the testis determining gene, SRY. (PubMed id 1614875)1, 2 Denny P.... Ashworth A. (1992)
    8. Expression of human SOX18 in normal tissues and tumors. (PubMed id 12165811)1, 9 Saitoh T. and Katoh M. (2002)
    9. Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth. (PubMed id 16179596)1, 9 Garcia-Ramirez M....Badimon L. (2005)
    10. ZBP-89 and Sp3 down-regulate while NF-Y up-regulates SOX18 promoter activity in HeLa cells. (PubMed id 18496767)1, 9 Petrovic I....Stevanovic M. (2009)

    External Searches for SOX18 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SOX18 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54345 HGNC: 11194 AceView: SOX18 Ensembl:ENSG00000203883 euGenes: HUgn54345
    ECgene: SOX18 H-InvDB: SOX18

    Other Databases showing SOX18 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX18 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOX18 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX18

    Intellectual Property
    for SOX18 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SOX18 gene:
    Search GeneIP for patents involving SOX18

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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