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

SOX17 Gene

protein-coding   GIFtS: 56
GCID: GC08P055370

SRY (sex determining region Y)-box 17
 Explore 15 diseases affiliated with
SOX17 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX17    

Aliases
for SOX17 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 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


Summaries
for SOX17 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 SOX17:
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)

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)




Genomic Views
for SOX17 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_000008.10  NC_018919.1  NT_008183.19  
Regulatory elements:
   SABiosciences 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 plasmid: SOX17 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SOX17 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: 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)
Subcellular location: Nucleus (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H6I2

    • SOX17 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071899.1  
    ENSEMBL proteins: 
     ENSP00000297316  

    Human Recombinant Protein Products: 
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    Novus Biologicals SOX17 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SOX17

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

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


    SOX17 for ontologies           About GeneDecksing



    SOX17 Antibody Products: 
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    Uscn Antibodies for SOX17
    ThermoFisher Antibodies for SOX17

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    Uscn ELISAs and CLIAs for SOX17

    Protein Domains /
    Families
    for SOX17 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX17 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     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


    Function
    for SOX17 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: 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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX17
    8/17 QIAGEN miScript miRNA 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 plasmid: SOX17 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 SOX17 (see all 7)
    OriGene shRNA RFP: SOX17
    OriGene siRNA: SOX17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX17

    Gene Editing
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    Clone
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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)
    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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    Search LifeMap BioReagents cell lines for SOX17

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX17

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (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


    Animal Models:
         Mouse knock-out Sox17tm1Ysk for SOX17
         10 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Sox17):
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  liver/biliary system  mortality/aging  no phenotypic analysis  normal 

    SOX17 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SOX17 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
    2Wnt Signaling Pathway
    		Wnt signaling pathway0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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


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


    SOX17 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for SOX17 (Q9H6I23 ENSP000002973164) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): 5/52 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for SOX17 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 SOX17
    Search CenterWatch for drugs/clinical trials and news about SOX17 

    Transcripts
    for SOX17 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 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:             		 OriGene 3'-UTR Clone: SOX17
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX17
    8/17 QIAGEN miScript miRNA 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 plasmid: SOX17 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX17 (see all 7)
    OriGene shRNA RFP: SOX17
    OriGene siRNA: SOX17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX17
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for SOX17
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX17
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX17
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX17

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.100743477  DT.406984  DT.306367 

    24/54 AceView cDNA sequences (see all 54):

    AI312847 NM_022454 AI821648 AA478398 AA402289 AI923708 BC030209 AA405747 
    AI742866 BU785967 BF003065 BU785644 BF592080 AB073988 BI521890 AI821650 
    AA304159 AI765094 AV656892 AI935610 AW513143 AI739667 BG547088 AW513608 

    GeneLoc Exon Structure


    Expression
    for SOX17 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

    SOX17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTCCGGTGT

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

    SOX17 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/24 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 24) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EndodermDefinitive EndodermDefinitive Endoderm CellsEarly Embryo, Endoderm
    HypoblastHypoblastHypoblast CellsExtraembryonic Tissues
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)Zygote2-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)Zygote4-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    Gut TubeForegutForegut Endoderm CellsEndoderm
    Gut TubeGut TubePrimitive Gut Endoderm CellsEndoderm
    Gut TubeVentral Foregut EndodermVentral Foregut Endoderm CellsEndoderm
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/45 LifeMap Cells (see all 45) 
    NameCategory
    ESI-049 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    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-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    Mesoderm-like cells (Direct differentiati...)Mesoderm
    Endoderm progenitor-like cells (Generation and expan...)

    See SOX17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX17

    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

        SABiosciences Expression via Pathway-Focused 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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    QIAGEN 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
    for SOX17 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 SOX17 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SOX171 SRY (sex determining region Y)-box 17 73.69(n)
    66.67(a)    		   428534  NM_001039326.1  NP_001034415.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SOX176
    		 --
    		 50(a)
    		 1 ↔ 1
    		 GL343244.1(1001900-1011877)
    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   --
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 21(a)
    		 possible ortholog
    		 X(3505427-3506378)


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

    Paralogs
    for SOX17 gene

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


    Genomic Variants
    for SOX17 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

    10/94 NCBI SNPs in SOX17 are shown (see all 94)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1139217991,2
    		C,--50837288(+) GATTCG/ATATAT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs791865761,2
    		C,F,--50837532(+) AATATG/AAGGAT 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs757753941,2
    		C,--50837617(+) GGCTTG/TTTTTA 1 -- us2k10--------
    rs747436551,2
    		C,--50837728(+) TCTGCA/CAGAAT 1 -- us2k10--------
    rs1149420791,2
    		C,F,--50837904(+) TTTGTT/CATGCG 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs558158191,2
    		C,--50838599(+) GGCCCC/TGCGGC 1 -- us2k13Minor allele frequency- T:0.28CSA WA EA 239
    rs1129116211,2
    		--50839280(+) CCTTCC/TCGCTT 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs1139089581,2
    		--50839621(+) CACCCC/TGGTTG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs31804991,2
    		C,H--50840524(-) TACTGT/GTCAAA 2 /E /D mis1 ese34Minor allele frequency- G:0.00NS NA 214
    rs751932121,2
    		C,--50840595(+) GAATCC/TCCCCG 2 P L mis10--------

    HapMap Linkage Disequilibrium report for SOX17 (55370495 - 55373456 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SOX17
         1 CNV: 1783
         1 Inversion: 37301
    Human Gene Mutation Database (HGMD): SOX17

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    Disorders / Diseases
    for SOX17 gene

    (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.)
    About This Section
    SOX17 for disorders           About GeneDecksing

    OMIM gene information: 610928   
    OMIM disorders: 613674  
    UniProtKB/Swiss-Prot: SOX17_HUMAN, Q9H6I2
  • Defects in SOX17 are the cause of vesicoureteral reflux type 3 (VUR3) [MIM:613674]. VUR3 is 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

    15 diseases for SOX17:    About MalaCards
    vesicoureteral reflux    vesicoureteral reflux 3    testicular germ cell tumor    germ cell tumor
    intracranial aneurysm    lymphedema    embryonal carcinoma    seminoma
    colon carcinoma    hepatocellular carcinoma    colorectal cancer    carcinoma
    breast cancer    pancreatitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for SOX17:
    Seminoma     Embryonal carcinoma     Extragonadal germ cell cancer
    Human Genome Epidemiology (HuGE) Navigator: SOX17 (3 documents)

    Export disorders for SOX17 gene to outside databases

    Publications
    for SOX17 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 SOX17 gene, integrated from 9 sources (see all 49):
    (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. (2002)
    2. 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. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Sox17, the canonical Wnt antagonist, is epigeneticall y inactivated by promoter methylation in human breast cancer. (PubMed id 19301122)1, 9 Fu D.Y....Shao Z.M. (2010)
    5. Sox17 and beta-catenin cooperate to regulate the transcription of endodermal genes. (PubMed id 15163629)1, 9 Sinner D....Zorn A.M. (2004)
    6. 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. (2008)
    7. 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. (2007)
    8. Interplay of Oct4 with Sox2 and Sox17: a molecular sw itch from stem cell pluripotency to specifying a cardiac fate. (PubMed id 19736317)1, 9 Stefanovic S....PucAcat M. (2009)
    9. SOX17 directly activates Zfp202 transcription during in vitro endoderm differentiation. (PubMed id 18523156)1, 9 Patterson E.S....Gearhart J.D. (2008)
    10. Genome-wide association study of intracranial aneurysm s confirms role of Anril and SOX17 in disease risk. (PubMed id 22961961)1 Foroud T....Broderick J.P. (2012)

    External Searches for SOX17 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing SOX17 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64321 HGNC: 18122 AceView: SOX17 Ensembl:ENSG00000164736 euGenes: HUgn64321
    ECgene: SOX17 Kegg: 64321 H-InvDB: SOX17

    Other Databases showing SOX17 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX17 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 SOX17 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SOX17 gene

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



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