Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SOX2 Gene

protein-coding   GIFtS: 65
GCID: GC03P181429

SRY (Sex Determining Region Y)-Box 2

  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)
About This Section

Aliases
SRY (Sex Determining Region Y)-Box 21 2
MCOPS32 5
ANOP32
SRY-Related HMG-Box Gene 22
Transcription Factor SOX-22
Transcription Factor SOX22

External Ids:    HGNC: 111951   Entrez Gene: 66572   Ensembl: ENSG000001814497   OMIM: 1844295   UniProtKB: P484313   

Export aliases for SOX2 gene to outside databases

Previous GC identifers: GC03P178128 GC03P182273 GC03P182831 GC03P182750 GC03P182912 GC03P178834


(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 SOX2 Gene:
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in
the regulation of embryonic development and in the determination of cell fate. The product of this gene is
required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the
stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic
microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene
called SOX2 overlapping transcript (SOX2OT). (provided by RefSeq, Jul 2008)

GeneCards Summary for SOX2 Gene: 
SOX2 (SRY (sex determining region Y)-box 2) is a protein-coding gene. Diseases associated with SOX2 include sox2 anophthalmia syndrome, and sox2-related eye disorders, and among its related super-pathways are GSK3 Signaling and Wnt Signaling Pathway. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431
Function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a
number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical
for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal
development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity).
Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal
differentiation (By similarity)

Gene Wiki entry for SOX2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX2 gene promoter:
         ISGF-3   RFX1   Sp1   MyoD   Egr-2   MZF-1   MEF-2A   GATA-6   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX2


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

Entrez Gene cytogenetic band: 3q26.3-q27   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q26.3-q27

SOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P181429:  view genomic region     (about GC identifiers)

Start:
181,429,712 bp from pter      End:
181,432,224 bp from pter
Size:
2,513 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431 (See protein sequence)
Recommended Name: Transcription factor SOX-2  
Size: 317 amino acids; 34310 Da
Subunit: Interacts with ZSCAN10 (By similarity). Interacts with SOX3 and FGFR1 (By similarity)
Subcellular location: Nucleus
Biotechnology: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors
are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent
stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes
Sequence caution: Sequence=AAA35997.1; Type=Erroneous initiation; Sequence=CAA83435.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SOX2:
1O4X (3D)        2LE4 (3D)    
Secondary accessions: Q14537

Explore the universe of human proteins at neXtProt for SOX2: NX_P48431

Explore proteomics data for SOX2 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48431

  • SOX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOX2 Protein Expression
    REFSEQ proteins: NP_003097.1  
    ENSEMBL proteins: 
     ENSP00000439111   ENSP00000323588  

    Human Recombinant Protein Products for SOX2: 
    EMD Millipore Purified and/or Recombinant SOX2 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SOX2
    OriGene Protein Over-expression Lysate for SOX2
    OriGene MassSpec for SOX2 
    OriGene Custom Protein Services for SOX2
    GenScript Custom Purified and Recombinant Proteins Services for SOX2
    Novus Biologicals SOX2 Proteins
    Novus Biologicals SOX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SOX2
    Cloud-Clone Corp. Proteins for SOX2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7849401
    GO:0005667transcription factor complex TAS19736317
    GO:0005737cytoplasm IDA18027866
    GO:0005829cytosol IDA18000303

    SOX2 for ontologies           About GeneDecksing



    SOX2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX2
    R&D Systems Antibodies for SOX2
    Cell Signaling Technology (CST) Antibodies for SOX2 
    OriGene Antibodies for SOX2
    OriGene Custom Antibody Services for SOX2
    GenScript Custom Superior Antibodies Services for SOX2
    Novus Biologicals SOX2 Antibodies
    Abcam antibodies for SOX2
    Cloud-Clone Corp. Antibodies for SOX2 
    ThermoFisher Antibody for SOX2
    LSBio Antibodies in human, mouse, rat for SOX2 

    Assay Products for SOX2: 
    EMD Millipore Kits and Assays for the Analysis of SOX2
    OriGene Custom Assay Services for SOX2
    R&D Systems Transcription Factor Binding & Immunoprecipitation Assays for SOX2         (see all)
    GenScript Custom Assay Services for SOX2
    Cell Signaling Technology (CST) Sandwich ELISA Kits for SOX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOX2 
    Cloud-Clone Corp. CLIAs for SOX2


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

    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR022097 TF_SOX

    Graphical View of Domain Structure for InterPro Entry P48431

    ProtoNet protein and cluster: P48431

    UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431
    Similarity: Contains 1 HMG box DNA-binding domain


    SOX2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOX2_HUMAN, P48431
    Function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a
    number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical
    for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal
    development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity).
    Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal
    differentiation (By similarity)

         Genatlas biochemistry entry for SOX2:
    SRY related HMG box gene 2,expressed in inner cell mass,primitive ectoderm,developing CNS,lens,induced by
    chordin,repressed by BMP4,activating FGF4,repressing osteopontin,inducing beta and delta crystallin
    expression,modulator of LINE retroposons promoter activity

         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:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding NAS7849401
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS7849401
         
    SOX2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SOX2:
     Increased HPV18 LCR reporter a 

         15/22 MGI mutant phenotypes (inferred from 21 alleles(MGI details for Sox2) (see all 22):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  no phenotypic analysis 

    SOX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SOX2: Sox2tm3Lpev Sox2tm4Lpev Sox2tm3Skn Sox2tm2.1Lpev

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SOX2:
    hsa-mir-522 (MIRT005692), hsa-mir-126 (MIRT005370), hsa-mir-145 (MIRT000307)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX2
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX2 (see all 31):
    hsa-miR-607 hsa-miR-520d-5p hsa-miR-429 hsa-miR-300 hsa-miR-371-5p hsa-miR-373* hsa-miR-374c hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidSOX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOX2
    Sirion Biotech Customized adenovirus for overexpression of SOX2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SOX2 (see all 7)
    OriGene ORF clones in mouse, rat for SOX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX2 (NM_003106)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX2
    Sirion Biotech Customized lentivirus for stable overexpression of SOX2 
                         Customized lentivirus expression plasmids for stable overexpression of SOX2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SOX2
    LifeMap BioReagents: cell lines associated with SOX2: Human Embryonic Stem Cell Line ESI-017,
    Human Embryonic Stem Cell Line ESI-035, Human Embryonic Stem Cell Line ESI-049,
    Human Embryonic Stem Cell Line ESI-051, Human Embryonic Stem Cell Line ESI-053
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SOX2 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    2Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency0.55
    3Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    4Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    5Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SOX2
        Selected targets of Oct-3/4

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SOX2 (see all 6)
        Transcriptional Regulatory Network in Embryonic Stem Cell
    Molecular Mechanisms of Cancer
    Oct4 in Mammalian ESC Pluripotency
    Human Embryonic Stem Cell Pluripotency
    Nanog in Mammalian ESC Pluripotency

    1 Cell Signaling Technology (CST) Pathway for SOX2
        Wnt / Hedgehog / Notch

    3 BioSystems Pathways for SOX2
        Wnt Signaling Pathway and Pluripotency
    SIDS Susceptibility Pathways
    Cardiac Progenitor Differentiation


    1         Kegg Pathway  (Kegg details for SOX2):
        Hippo signaling pathway


    SOX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/76 Interacting proteins for SOX2 (P484313 ENSP000003235884) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000235068Q018603, ENSP000004050414I2D: score=4 STRING: ENSP00000405041
    POU5F1Q018603, ENSP000002599154I2D: score=4 STRING: ENSP00000259915
    ENSG00000206454Q018603I2D: score=4 
    ENSG00000229094Q018603I2D: score=4 
    ENSG00000230336Q018603I2D: score=4 
    About this table

    Gene Ontology (GO): 5/57 biological process terms (GO ID links to tree view) (see all 57):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001649osteoblast differentiation IDA18187129
    GO:0001654eye development IEP18285410
    GO:0001708cell fate specification ----
    GO:0001714endodermal cell fate specification IDA--

    SOX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SOX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX2

    2 Novoseek inferred chemical compound relationships for SOX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 2.72 3 12841584 (2), 17525239 (1)
    zinc 0 2 8641144 (1), 9435279 (1)

    Search CenterWatch for drugs/clinical trials and news about SOX2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SOX2 gene: 
    NM_003106.3  

    Unigene Cluster for SOX2:

    SRY (sex determining region Y)-box 2
    Hs.518438  [show with all ESTs]
    Unigene Representative Sequence: NM_003106
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431565 ENST00000325404(uc003fkx.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX2
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX2 (see all 31):
    hsa-miR-607 hsa-miR-520d-5p hsa-miR-429 hsa-miR-300 hsa-miR-371-5p hsa-miR-373* hsa-miR-374c hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidSOX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX2
    Clone
    Products:
         
    OriGene clones in human, mouse for SOX2 (see all 7)
    OriGene ORF clones in mouse, rat for SOX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX2 (NM_003106)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX2
    Sirion Biotech Customized lentivirus for stable overexpression of SOX2 
                         Customized lentivirus expression plasmids for stable overexpression of SOX2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SOX2
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX2

    Additional mRNA sequence: 

    AK312595.1 BC013923.2 L07335.1 Z31560.1 

    9 DOTS entries:

    DT.110032  DT.100779994  DT.91685066  DT.100649253  DT.120898896  DT.100025773  DT.100770335  DT.100643943 
    DT.91704238 

    24/138 AceView cDNA sequences (see all 138):

    BU733331 AI656655 BM976277 AW163619 AI360261 BU931277 BE795592 NM_003106 
    BI917204 BG152545 BM668019 AI073494 AI566840 BE792833 AU117840 AI936860 
    BM682840 AI364474 BM978785 BE797259 AW007161 CR592780 BM719524 BM983807 

    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™, 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

    SOX2 expression in normal human tissues (normalized intensities)      SOX2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAAACCC
    SOX2 Expression
    About this image


    SOX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/43 selected tissues (see all 43) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 69 entries
             Inner Cell Mass Cells Inner Cell Mass
             VUB03_DM1
             Floating aggregates ( A scalable, suspension protocol for derivation of pancreatic...
             ESI-017   
     
     Brain (Nervous System)    fully expand to see all 33 entries
             Endothelial Cells Blood Brain Barrier
             Midbrain tegmentum
             Neural stem cells LewisX+ CXCR4+
             Human Astrocytes   
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 22 entries
             Dorsolateral Hinge Point Cells Primitive Spinal Cord
             Telencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Neural Ectoderm (Nervous System)    fully expand to see all 15 entries
             Intraembryonic Neural Ectoderm Cells Neural Plate
     
     Lung (Respiratory System)    fully expand to see all 9 entries
             Multipotent Lung Progenitor Cells Ventral Foregut Endoderm
             Stem Bronchi

    See SOX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX2

    SOURCE GeneReport for Unigene cluster: Hs.518438
        SABiosciences Expression via Pathway-Focused PCR Arrays including SOX2 (see all 8): 
              Neurogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SOX2
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX2

    (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 SOX2 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox21 , 5 SRY-box containing gene 21, 5 94.53(n)1
    98.42(a)1
      3 (16.93 cM)5
    206741  NM_011443.31  NP_035573.31 
     346504055 
    chicken
    (Gallus gallus)
    Aves SOX21 SRY (sex determining region Y)-box 2 85.93(n)
    93.97(a)
      396105  NM_205188.1  NP_990519.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.188172 Xenopus laevis transcribed sequences 90.03(n)    BI446671.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc14d072 Danio rerio cDNA clone MGC65860 IMAGE6799998, complete more 82(n)    BC056743.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SoxN6
    SoxNeuro
    23(a)
    1 → many
    2L(8825625-8829670)


    ENSEMBL Gene Tree for SOX2 (if available)
    TreeFam Gene Tree for SOX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX2 gene
    SOX132  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  SOX152  
    SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  SOX82  
    SRY2  SOX102  SOX72  
    8 SIMAP similar genes for SOX2 using alignment to 1 protein entry:     SOX2_HUMAN:
    soxB    SOX3    SRY    SOX1    SOX10    SOX14
    SOX15    SOX21

    SOX2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SOX2
    PGOHUM00000249794


    (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) 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

    10/86 SNPs in SOX2 are shown (see all 86)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048938061,2
    Cpathogenic1181293021(+) ATGAAG/TGCCTT 2 K N mis10--------
    rs1048938041,2
    Cpathogenic1181293046(+) GCGGGC/TAGCGG 2 Q * stg10--------
    rs1048938051,2
    Cpathogenic1181293104(+) CAAGCC/GCCTGG 2 P R mis10--------
    rs1048938011,2
    Cpathogenic1181293131(+) TTTGTA/CGGAGA 2 * S stg10--------
    rs1048938001,2
    Cpathogenic1181293160(+) TCGACG/TAGGCT 2 E * stg10--------
    rs1048938021,2
    Cpathogenic1181293173(+) GCGGCC/TGCGAG 2 P L mis10--------
    rs1048938031,2
    Cpathogenic1181293346(+) TGAACC/TAGCGC 2 Q * stg10--------
    rs1048937991,2
    Cpathogenic1181293412(+) AGGACC/TAGCTG 2 Q * stg10--------
    rs1048938081,2
    Cpathogenic1181293454(+) ACGGCA/GCAGCG 2 T A mis10--------
    rs98671811,2
    H--181290452(+) AAGAAC/GTAAAA 1 -- us2k13Minor allele frequency- G:0.00EA NS 298

    HapMap Linkage Disequilibrium report for SOX2 (181429712 - 181432224 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SOX2: --

    Human Gene Mutation Database (HGMD): SOX2

    Locus Specific Mutation Databases (LSDB): SOX2
    SABiosciences Cancer Mutation PCR Assays
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing SOX2:
    Oncogenes & Tumor Suppressor Genes 384HC
    Lung Cancer
    SeqTarget long-range PCR primers for resequencing SOX2
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 184429   
    OMIM disorders: 206900  
    UniProtKB/Swiss-Prot: SOX2_HUMAN, P48431
  • Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]: A disease characterized by the rare association of
    malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with
    trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye
    to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs
    in association with syndromes that include non-ocular abnormalities. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/68 diseases for SOX2 (see all 68):    About MalaCards
    sox2 anophthalmia syndrome    sox2-related eye disorders    ampulla of vater adenocarcinoma    teratoma of the central nervous system
    esophageal atresia/tracheoesophageal fistula    microphthalmia syndromic 3    optic nerve hypoplasia and abnormalities of the central nervous system    anophthalmia/microphthalmia
    esophageal atresia    tracheoesophageal fistula    optic nerve hypoplasia    schizencephaly
    lambert-eaton myasthenic syndrome    mixed germ cell tumor    microphthalmia    cataract-glaucoma
    brain malformations    cornelia de lange syndrome    septo-optic dysplasia    dermatofibrosarcoma

    7 diseases from the University of Copenhagen DISEASES database for SOX2:
    Teratoma     Microphthalmia     Embryonal carcinoma     Malignant glioma
    Coloboma     Seminoma     Central nervous system teratoma

    SOX2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for SOX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anophthalmia 85.4 15 17522144 (5), 18385794 (2), 15503273 (2), 19471311 (1) (see all 7)
    microphthalmia 75.3 9 17522144 (3), 18385794 (2), 16651659 (2), 18285410 (1)
    eye abnormalities 67.2 1 18385794 (1)
    carcinoma embryonal 58.6 3 9343393 (1), 9669521 (1), 17324942 (1)
    teratoma 46.1 10 17464316 (5)
    metaplasia 37.2 9 19520737 (3), 14719100 (2), 15910596 (1), 14655050 (1) (see all 5)
    hearing loss sensorineural 23.9 1 18407919 (1)
    gastric cancer 8.95 7 18268498 (3), 15910596 (1), 17136346 (1)
    small cell lung cancer 3.93 2 16077994 (1), 10760287 (1)
    tumors 0 1 15983380 (1)

    GeneTests: SOX2
    GeneReviews: SOX2
    Genetic Association Database (GAD): SOX2
    Human Genome Epidemiology (HuGE) Navigator: SOX2 (6 documents)

    Export disorders for SOX2 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)
    About This Section

    PubMed articles for SOX2 gene, integrated from 9 sources (see all 319):
    (articles sorted by number of sources associating them with SOX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cDNA sequence and chromosomal location of the human SOX2 gene. (PubMed id 7849401)1, 2, 3 Stevanovic M....Goodfellow P. (1994)
    2. SOX2 has gender-specific genetic effects on diabetic nephropathy in samples from patients with type 1 diabetes mellitus in the GoKin D study. (PubMed id 20114006)1, 4, 9 Gu H.F....Brismar K. (2009)
    3. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphi sms on the development of nephropathy in type 1 Diabetes Mellitus. (PubMed id 20667095)1, 4 Zhang D....Gu H.F. (2010)
    4. Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    5. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (2009)
    6. The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort. (PubMed id 17898260)1, 4 Simpson C.L....Rahi J.S. (2007)
    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. (2004)
    8. Mutations in SOX2 cause anophthalmia. (PubMed id 12612584)1, 2 Fantes J.... FitzPatrick D.R. (2003)
    9. Expression of Sox2 in mature and immature teratomas of central nervous system. (PubMed id 17464316)1, 9 Phi J.H....Wang K.C. (2007)
    10. Helicobacter pylori induces gastric mucosal intestina l metaplasia through the inhibition of interleukin-4-mediated HMG box protein S ox2 expression. (PubMed id 19520737)1, 9 Asonuma S....Shimosegawa T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6657 HGNC: 11195 AceView: SOX2 Ensembl:ENSG00000181449 euGenes: HUgn6657
    ECgene: SOX2 Kegg: 6657 H-InvDB: SOX2

    (According to HUGE)
    About This Section
      --

    (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 SOX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX2
    Wikipedia http://en.wikipedia.org/wiki/Sox2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SOX2 gene:
    Search GeneIP for patents involving SOX2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore Kits and Assays for the Analysis of SOX2
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX2
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Purified and/or Recombinant SOX2 Protein
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for SOX2 (SOX2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Primer Pairs for SOX2 (SOX2)   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays for SOX2 (SOX2)  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Proteome Profiler Antibody Arrays for SOX2 (SOX2)  
     OriGene Antibodies for SOX2   OriGene RNAi products in human, mouse, rat for SOX2  
     OriGene qPCR primer pairs and template standards for SOX2   OriGene Protein Over-expression Lysate for SOX2  
     OriGene MassSpec something-or-other for SOX2   OriGene clones in human, mouse for SOX2  
     OriGene qSTAR qPCR primer pairs in human, mouse for SOX2   OriGene Purified Protein for SOX2  
     OriGene ORF clones in mouse, rat for SOX2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SOX2   OriGene Custom Protein Services for SOX2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SOX2
     QIAGEN SeqTarget long-range PCR primers for resequencing SOX2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX2
     GenScript Custom Purified and Recombinant Proteins Services for SOX2 GenScript cDNA clones with any tag delivered in your preferred vector for SOX2
     GenScript Custom Assay Services for SOX2 GenScript Custom Superior Antibodies Services for SOX2
     GenScript Custom overexpressing Cell Line Services for SOX2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for SOX2 

     Regulatory tfbs in SOX2 promoter
     Search Chromatin IP Primers for SOX2
     RT2 qPCR Primer Assay in human, mouse, rat SOX2
     GNC Network for SOX2
     SABiosciences PCR Arrays including human, mouse, rat SOX2
     Search Tocris compounds for SOX2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SOX2 antibodies
     SOX2 proteins
     SOX2 lysates
     Antibodies for SOX2
     See all of Abcam's Antibodies, Kits and Proteins for SOX2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SOX2




     Proteins for SOX2
     Antibodies for SOX2
     ELISAs for SOX2
     CLIAs for SOX2
     Cell Lines associated with SOX2: Human Embryonic Stem Cell Line ESI-017,
    Human Embryonic Stem Cell Line ESI-035, Human Embryonic Stem Cell Line ESI-049,
    Human Embryonic Stem Cell Line ESI-051, Human Embryonic Stem Cell Line ESI-053
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX2
     SwitchGear 3'UTR luciferase reporter plasmids for SOX2
     SwitchGear Promoter luciferase reporter plasmids for SOX2
     ThermoFisher Antibody for SOX2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SOX2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOX2
    Customized:
     lentivirus for stable overexpression of SOX2
     lentivirus expression plasmids for stable overexpression of SOX2
     adenovirus for overexpression of SOX2
     LSBio Antibodies in human, mouse, rat for SOX2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SOX2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4