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SOX18 Gene

protein-coding   GIFtS: 55
GCID: GC20M062679

SRY (Sex Determining Region Y)-Box 18

  See SOX18-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SOX18 Gene:
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)

GeneCards Summary for SOX18 Gene:
SOX18 (SRY (sex determining region Y)-box 18) is a protein-coding gene. Diseases associated with SOX18 include yellow nail syndrome, and intestinal lymphangiectasia. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is SOX13.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   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 Chromatin IP Primers for SOX18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713 (See protein sequence)
Recommended Name: Transcription factor SOX-18  
Size: 384 amino acids; 40891 Da
Caution: Was originally (PubMed:1614875) termed SOX-8
Secondary accessions: Q0VGA9 Q9NPH8

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

Explore proteomics data for SOX18 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOX18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060889.1  
    ENSEMBL proteins: 
     ENSP00000341815  

    SOX18 Human Recombinant Protein Products:

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    OriGene Purified Protein for SOX18
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    Novus Biologicals SOX18 Protein
    Novus Biologicals SOX18 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOX18

     
    Search eBioscience for Proteins for SOX18 

     
    antibodies-online proteins for SOX18 (5 products) 

     
    antibodies-online peptides for SOX18

    SOX18 Antibody Products:

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    antibodies-online antibodies for SOX18 (20 products) 

    SOX18 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOX18
    Cloud-Clone Corp. CLIAs for SOX18
    Search eBioscience for ELISAs for SOX18 
    antibodies-online kits for SOX18 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SOX: SRY (sex determining region Y)-boxes

    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     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


    Find genes that share domains with SOX18           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with SOX18           About GenesLikeMe


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

    Find genes that share phenotypes with SOX18           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SOX18

    miRNA
    Products:
        
    miRTarBase miRNAs that target SOX18:
    hsa-mir-335-5p (MIRT018859)

    Block miRNA regulation of human, mouse, rat SOX18 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSOX18 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOX18
    Predesigned siRNA for gene silencing in human, mouse, rat SOX18

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

    Clone
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    OriGene clones in human, mouse for SOX18 (see all 6)
    OriGene ORF clones in 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
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SOX18 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX18


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SOX18_HUMAN, P35713: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with SOX18           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SOX18 About    
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    Molecular Mechanisms of Cancer0.51

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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SOX18
    Interactions:

        GeneGlobe Interaction Network for SOX18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for SOX18 (P357133 ENSP000003418154) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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): Selected biological process terms (see all 27):    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--

    Find genes that share ontologies with SOX18           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SOX18



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:
         
    Block miRNA regulation of human, mouse, rat SOX18 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSOX18 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SOX18
    Predesigned siRNA for gene silencing in human, mouse, rat SOX18
    Clone
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    OriGene clones in human, mouse for SOX18 (see all 6)
    OriGene ORF clones in 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 qPCR primer pairs and template standards for SOX18
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX18
      QuantiTect SYBR Green Assays in human, mouse, rat SOX18
      QuantiFast Probe-based Assays in human, mouse, rat SOX18

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 94):

    X65664 CR611852 CR621620 CR603832 AJ243896 CD722552 BC035513 CR622272 
    CR622805 N75049 CR618677 CR601016 BC038590 BC073971 CR620118 NM_018419 
    AI434831 BI760908 AL571703 AL553398 AL551938 AI672322 AL576406 AF270652 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOX18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACAGCCCC
    SOX18 Expression
    About this image


    SOX18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Lymphatic Endothelial Cells Lymphatic Vessels
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Interstitial Stroma Cells Interstitial Stroma
             S-shaped Body
    SOX18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOX18 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.8619
        Custom PCR Arrays for SOX18
    Primer
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    OriGene qPCR primer pairs and template standards for SOX18
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX18

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SOX18 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox181 , 5 SRY-box containing gene 185
    SRY (sex determining region Y)-box 181
    82.85(n)1
    85.94(a)1
      2 (103.71 cM)5
    206721  NM_009236.21  NP_033262.21 
     1816698365 
    chicken
    (Gallus gallus)
    Aves SOX181 SRY (sex determining region Y)-box 18 64.44(n)
    62.54(a)
      374200  NM_204309.1  NP_989640.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOX186
    SRY (sex determining region Y)-box 18
    46(a)
    1 ↔ 1
    4(155430093-155444946)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sox181 SRY (sex determining region Y)-box 18 65.52(n)
    61.72(a)
      100170185  NM_001129937.1  NP_001123409.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sox181 SRY-box containing gene 18 66.04(n)
    68.4(a)
      797246  XM_001337666.2  XP_001337702.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox153 DNA bending 51(a)   50E4   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with SOX18           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOX18 (see all 69)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366921,2,,4
    CHypotrichosis-lymphedema-telangiectasia syndrome (HLTS)4 pathogenic162680560(-) GGCTGC/GCTCAG 2 P A mis10--------
    rs289366931,2,,4
    CHypotrichosis-lymphedema-telangiectasia syndrome (HLTS)4 pathogenic162680587(-) TGGTGA/TGGGCA 2 R W mis10--------
    rs743154301,2
    Cpathogenic162679954(-) GACTGA/CGCGCT 2 * C stg10--------
    rs1450821651,2
    C--62678705(+) TCCGAC/TAGGCT 1 -- ds50010--------
    rs1468137641,2
    --62678804(+) GTCACA/GGAAGG 1 -- ds50010--------
    rs123031,2
    C,F--62679146(-) CTTTGA/C/G/
            
    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
    rs2006683481,2
    C--62679713(+) CACGTC/TGGCCC 2 N D mis10--------
    rs1835786541,2
    --62679873(+) GCCTCC/TGCCAG 2 A syn10--------

    HapMap Linkage Disequilibrium report for SOX18 (62679076 - 62680994 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SOX18 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509785CNV Insertion20534489
    dgv4660n71CNV Loss21882294
    dgv4661n71CNV Loss21882294
    dgv4659n71CNV Loss21882294
    nsv913270CNV Loss21882294
    nsv913305CNV Loss21882294
    dgv4658n71CNV Loss21882294
    dgv4656n71CNV Loss21882294
    nsv913190CNV Loss21882294
    esv22562CNV Loss19812545

    Human Gene Mutation Database (HGMD): SOX18
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOX18
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX18

    (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

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    OMIM gene information: 601618   
    OMIM disorders: 607823  
    UniProtKB/Swiss-Prot: SOX18_HUMAN, P35713
  • Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]: A syndrome characterized by absent
    eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for SOX18:    
    About MalaCards
    yellow nail syndrome    intestinal lymphangiectasia    hypotrichosis-lymphedema-telangiectasia syndrome    telangiectasis
    lymphedema    klippel-trenaunay syndrome    hypotrichosis

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

    Find genes that share disorders with SOX18           About GenesLikeMe

    9 Novoseek inferred 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)

    Genetic Association Database (GAD): SOX18
    Human Genome Epidemiology (HuGE) Navigator: SOX18 (2 documents)

    Export disorders for SOX18 gene to outside databases

    (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)
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    PubMed articles for SOX18 gene, integrated from 10 sources (see all 47):
    (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. (J. Hum. Genet. 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. (Am. J. Hum. Genet. 2003)
    3. The human SOX18 gene: cDNA cloning and high resolution mapping. (PubMed id 10858556)1, 2, 9 Stanojcic S. and Stevanovic M. (Biochim. Biophys. Acta 2000)
    4. Structure, mapping, and expression of human SOX18. (PubMed id 11130989)1, 2, 9 Pennisi D.J.... Koopman P. (Mamm. Genome 2000)
    5. HGF and MET mutations in primary and secondary lymphedema. (PubMed id 18564920)1, 4, 9 Finegold D.N....Ferrell R.E. (Lymphat Res Biol 2008)
    6. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (Lymphat Res Biol 2008)
    7. 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. (Genome Res. 2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. A conserved family of genes related to the testis determining gene, SRY. (PubMed id 1614875)1, 2 Denny P.... Ashworth A. (Nucleic Acids Res. 1992)
    10. Expression of human SOX18 in normal tissues and tumors. (PubMed id 12165811)1, 9 Saitoh T. and Katoh M. (Int. J. Mol. Med. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SOX18 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SOX18[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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