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SOX17 Gene

protein-coding   GIFtS: 56
GCID: GC08P055370

SRY (Sex Determining Region Y)-Box 17

  See 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 171 2
VUR32 5
SRY-Related HMG-Box Transcription Factor SOX172
Transcription Factor SOX-172

External Ids:    HGNC: 181221   Entrez Gene: 643212   Ensembl: ENSG000001647367   OMIM: 6109285   UniProtKB: Q9H6I23   

Export aliases for SOX17 gene to outside databases

Previous GC identifers: GC08P054642 GC08P055309 GC08P055093 GC08P055420 GC08P055533 GC08P050838


(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 SOX17 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for SOX17 Gene:
SOX17 (SRY (sex determining region Y)-box 17) is a protein-coding gene. Diseases associated with SOX17 include vesicoureteral reflux 3, and germ cell cancer. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2
Function: Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences
5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes
degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal
looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable
transcriptional activator in the premeiotic germ cells (By similarity)




(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:
NC_000008.11  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOX17 gene promoter:
         GATA-6   HNF-4alpha2   Nkx2-5   c-Ets-1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX17 promoter sequence
   Search Chromatin IP Primers for SOX17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOX17


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

Entrez Gene cytogenetic band: 8q11.23   Ensembl cytogenetic band:  8q11.23   HGNC cytogenetic band: 8q11.23

SOX17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX17 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P055370:  view genomic region     (about GC identifiers)

Start:
55,370,495 bp from pter      End:
55,373,456 bp from pter
Size:
2,962 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2 (See protein sequence)
Recommended Name: Transcription factor SOX-17  
Size: 414 amino acids; 44117 Da
Subunit: Interacts with CTNNB1, LEF1 and TCF4 (By similarity)
2 PDB 3D structures from and Proteopedia for SOX17:
2YUL (3D)        4A3N (3D)    

Explore the universe of human proteins at neXtProt for SOX17: NX_Q9H6I2

Explore proteomics data for SOX17 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOX17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071899.1  
    ENSEMBL proteins: 
     ENSP00000297316  

    SOX17 Human Recombinant Protein Products:

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    SOX17 Antibody Products:

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    Abcam antibodies for SOX17
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    ThermoFisher Antibodies for SOX17
    LSBio Antibodies in human, mouse, rat for SOX17

    SOX17 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SOX17
    Cloud-Clone Corp. CLIAs for SOX17


    (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 Q9H6I2

    ProtoNet protein and cluster: Q9H6I2

    UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2
    Similarity: Contains 1 HMG box DNA-binding domain
    Similarity: Contains 1 Sox C-terminal domain


    SOX17 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOX17_HUMAN, Q9H6I2
    Function: Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences
    5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes
    degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal
    looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable
    transcriptional activator in the premeiotic germ cells (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ISS--
    GO:0003713transcription coactivator activity IEA--
    GO:0005515protein binding ----
         
    SOX17 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Sox17):
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  liver/biliary system  mortality/aging  no phenotypic analysis  normal 

    SOX17 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sox17tm1Ysk for SOX17

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOX17
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOX17

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX17
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX17

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SOX17 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX17 (see all 17):
    hsa-miR-362-3p hsa-miR-200a hsa-miR-1297 hsa-miR-3167 hsa-miR-141 hsa-miR-542-3p hsa-miR-514b-3p hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidSOX17 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOX17
    Predesigned siRNA for gene silencing in human, mouse, rat SOX17

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOX17

    Clone
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    OriGene clones in human, mouse for SOX17 (see all 6)
    OriGene ORF clones in mouse, rat for SOX17
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX17 (NM_022454)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX17

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SOX17
    Browse ESI BIO Cell Lines and PureStem Progenitors for SOX17 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX17


    (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
    SOX17_HUMAN, Q9H6I2: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    cytoskeleton1
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17875931
    GO:0005667transcription factor complex IDA19736317

    SOX17 for ontologies           About GeneDecksing


    (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 SOX17 About    
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    Molecular Mechanisms of Cancer0.51
    2Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    3Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SOX17
        Molecular Mechanisms of Cancer

    1 BioSystems Pathway for SOX17
        Cardiac Progenitor Differentiation


    1 Kegg Pathway  (Kegg details for SOX17):
        Wnt signaling pathway


    SOX17 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOX17: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SOX17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for SOX17 (Q9H6I23 ENSP000002973164) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    LEF1ENSP000002651654STRING: ENSP00000265165
    TCF7ENSP000003403474STRING: ENSP00000340347
    TCF7L1ENSP000002821114STRING: ENSP00000282111
    TCF7L2ENSP000003584044STRING: ENSP00000358404
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 52):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001525angiogenesis ISS--
    GO:0001570vasculogenesis ISS--
    GO:0001706endoderm formation IDA18682240
    GO:0001828inner cell mass cellular morphogenesis IEA--

    SOX17 for ontologies           About GeneDecksing



    (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 SOX17



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SOX17 gene: 
    NM_022454.3  

    Unigene Cluster for SOX17:

    SRY (sex determining region Y)-box 17
    Hs.98367  [show with all ESTs]
    Unigene Representative Sequence: NM_022454
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297316(uc003xsb.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SOX17 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX17 (see all 17):
    hsa-miR-362-3p hsa-miR-200a hsa-miR-1297 hsa-miR-3167 hsa-miR-141 hsa-miR-542-3p hsa-miR-514b-3p hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidSOX17 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SOX17
    Predesigned siRNA for gene silencing in human, mouse, rat SOX17
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX17 (NM_022454)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX17
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SOX17
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX17
      QuantiTect SYBR Green Assays in human, mouse, rat SOX17
      QuantiFast Probe-based Assays in human, mouse, rat SOX17

    Additional mRNA sequence: 

    AB073988.1 AK025905.1 BC030209.1 BC111365.1 BC111770.1 

    3 DOTS entries:

    DT.100743477  DT.406984  DT.306367 

    Selected AceView cDNA sequences (see all 54):

    BC030209 NM_022454 AA402289 AI923708 AA405747 AI821648 BU785644 BF003065 
    BF592080 AB073988 BI521890 AI742866 AA478398 AI312847 BU785967 AA304159 
    AK025905 AI866319 AW514232 AI567025 BG547088 AA477828 AI821669 AW439799 

    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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    SOX17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCCGGTGT
    SOX17 Expression
    About this image


    SOX17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 29) fully expand
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 17 entries
             Definitive Endoderm Cells Definitive Endoderm
             Endoderm-like cells
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             Hypoblast Cells Hypoblast
             Extraembryonic endoderm-like cells
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Mature airway epithelial cells
     
     NULL (Uncategorized)    fully expand to see all 11 entries
             Primitive gut tube
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 7 entries
             Endoderm Progenitor Cells Anterior Primitive Streak
             Mesendoderm-like cells
    SOX17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOX17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98367

    UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2
    Tissue specificity: Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In
    normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in
    colon and rectum

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SOX17: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SOX17
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX17

    (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 SOX17 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox171 , 5 SRY-box containing gene 175
    SRY (sex determining region Y)-box 171
    83.9(n)1
    85.44(a)1
      1 (1.65 cM)5
    206711  NM_011441.41  NP_035571.11 
     44909285 
    chicken
    (Gallus gallus)
    Aves SOX171 SRY (sex determining region Y)-box 17 70.82(n)
    61.82(a)
      428534  NM_001039326.1  NP_001034415.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOX176
    SRY (sex determining region Y)-box 17
    56(a)
    1 ↔ 1
    GL343244.1(997248-1012035)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060350.12   -- 76.39(n)    BC060350.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF168614.22   -- 78.94(n)   30544  AF168614.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox153 DNA bending 69(a)   50E4   --


    ENSEMBL Gene Tree for SOX17 (if available)
    TreeFam Gene Tree for SOX17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOX17 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX182  SOX52  ENSG000002587242  SOX212  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    16 SIMAP similar genes for SOX17 using alignment to 3 protein entries:     SOX17_HUMAN (see all proteins):
    SOX14    SOX21    soxB    SOX11    SOX25    SOX27
    SOX28    SOX10    SOX26    SRY    SOX5    SOX6
    SOX7    SOX15    SOX30    SOX18

    SOX17 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SOX17
    PGOHUM00000249668


    (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 SOX17 (see all 117)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651694
    Vesicoureteral reflux 3 (VUR3)4--see VAR_0651692 G C mis40--------
    VAR_0651704
    Vesicoureteral reflux 3 (VUR3)4--see VAR_0651702 Y N mis40--------
    rs347410311,2
    C--55368697(+) TTTTTT/-CAGAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs568334381,2
    C--55466515(+) TCTCA-/A/AA  
            
    AAAAA
    1 -- us2k11NA 2
    rs100993411,2
    C,F,A,H--55466595(+) TAGTTT/CTGTTG 1 -- us2k120Minor allele frequency- C:0.22NS EA NA WA 2344
    rs1914339531,2
    --55466725(+) AACTAA/CCAACT 1 -- us2k10--------
    rs1434035581,2
    --55466775(+) ATTTTC/TTTTCT 1 -- us2k10--------
    rs1846281171,2
    --55466973(+) ATGCCA/TCTAAT 1 -- us2k10--------
    rs1139217991,2
    C,F--55467114(+) GATTCG/ATATAT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1489580441,2
    C--55467167(+) GTTAGC/TTGCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SOX17 (55370495 - 55373456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SOX17:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv890927CNV Loss21882294
    nsv890926CNV Loss21882294
    nsv438055CNV Loss16468122
    nsv499746OTHER Inversion21111241
    nsv7417OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): SOX17
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOX17
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX17

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610928   
    OMIM disorders: 613674  
    UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2
  • Vesicoureteral reflux 3 (VUR3) [MIM:613674]: A disease belonging to the group of congenital anomalies of
    the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and
    sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a
    developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting
    inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal
    scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and
    end-stage renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SOX17 (see all 29):    
    About MalaCards
    vesicoureteral reflux 3    germ cell cancer    extragonadal germ cell cancer    congenital anomalies of kidney and urinary tract
    vesicoureteral reflux 2    vesicoureteral reflux    intracranial aneurysm    lymphedema
    testicular germ cell tumor    leukodystrophy    germ cell tumors    seminoma
    proteinuria    oligodendroglioma    papillary thyroid carcinoma    sinusitis
    esophageal cancer    hypertension    hepatocellular carcinoma    colorectal cancer

    2 diseases from the University of Copenhagen DISEASES database for SOX17:
    Seminoma     Embryonal carcinoma

    SOX17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SOX17
    Human Genome Epidemiology (HuGE) Navigator: SOX17 (3 documents)

    Export disorders for SOX17 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 SOX17 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with SOX17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of human SOX17. (PubMed id 11786926)1, 2, 3, 9 Katoh M. (Int. J. Mol. Med. 2002)
    2. Genome-wide association study of intracranial aneurysm identifies three new risk loci. (PubMed id 20364137)1, 4 Yasuno K....GA1nel M. (Nat. Genet. 2010)
    3. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. (PubMed id 20960469)1, 2 Gimelli S.... Ghiggeri G.M. (Hum. Mutat. 2010)
    4. Susceptibility loci for intracranial aneurysm in European and Japanese populations. (PubMed id 18997786)1, 4 Bilguvar K....GA1nel M. (Nat. Genet. 2008)
    5. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (Lymphat Res Biol 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Sox17, the canonical Wnt antagonist, is epigenetically inactivated by promoter methylation in human breast cancer. (PubMed id 19301122)1, 9 Fu D.Y....Shao Z.M. (Breast Cancer Res. Treat. 2010)
    8. Sox17 and beta-catenin cooperate to regulate the transcription of endodermal genes. (PubMed id 15163629)1, 9 Sinner D....Zorn A.M. (Development 2004)
    9. Epigenetic inactivation of the canonical Wnt antagonist SRY-box containing gene 17 in colorectal cancer. (PubMed id 18413743)1, 9 Zhang W....Baylin S.B. (Cancer Res. 2008)
    10. Sox17 and Sox4 differentially regulate beta-catenin/T-cell factor activity and proliferation of colon carcinoma cells. (PubMed id 17875931)1, 9 Sinner D....Wells J.M. (Mol. Cell. Biol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 64321 HGNC: 18122 AceView: SOX17 Ensembl:ENSG00000164736 euGenes: HUgn64321
    ECgene: SOX17 Kegg: 64321 H-InvDB: SOX17

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SOX17 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SOX17 gene:
    Search GeneIP for patents involving SOX17

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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