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    SOX2 SRY-box 2 [ Homo sapiens (human) ]

    Gene ID: 6657, updated on 7-Feb-2016
    Official Symbol
    SOX2provided by HGNC
    Official Full Name
    SRY-box 2provided by HGNC
    Primary source
    HGNC:HGNC:11195
    See related
    Ensembl:ENSG00000181449; HPRD:08921; MIM:184429; Vega:OTTHUMG00000158222
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANOP3; MCOPS3
    Summary
    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]
    Orthologs
    See SOX2 in Epigenomics, MapViewer
    Location:
    3q26.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (181711924..181714436)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (181429712..181432224)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SOX2 overlapping transcript Neighboring gene uncharacterized LOC102724604 Neighboring gene ribosomal protein L7a pseudogene 25 Neighboring gene zinc finger CCHC domain-containing protein 10 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 150

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
      POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
    • POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation, organism-specific biosystem (from REACTOME)
      POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
      Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...
    • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC2413

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adenohypophysis development IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    detection of mechanical stimulus involved in equilibrioception IEA
    Inferred from Electronic Annotation
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    diencephalon morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal cell fate specification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    eye development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    forebrain development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    glial cell fate commitment NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inner ear development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lens induction in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    olfactory placode formation IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pigment biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to growth factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    retina morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic stem cell population maintenance TAS
    Traceable Author Statement
    more info
     
    stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    tongue development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription factor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    transcription factor SOX-2
    Names
    SRY (sex determining region Y)-box 2
    SRY box 2
    SRY-related HMG-box gene 2
    sex determining region Y-box 2
    transcription factor SOX2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009080.1 RefSeqGene

      Range
      4991..7503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_719

    mRNA and Protein(s)

    1. NM_003106.3NP_003097.1  transcription factor SOX-2

      See identical proteins and their annotated locations for NP_003097.1

      Status: REVIEWED

      Source sequence(s)
      AC117415, BC013923, BF305585, CN430685, DA388996
      Consensus CDS
      CCDS3239.1
      UniProtKB/Swiss-Prot
      P48431
      Related
      ENSP00000323588, OTTHUMP00000212684, ENST00000325404, OTTHUMT00000350419
      Conserved Domains (2) summary
      pfam12336
      Location:110200
      SOXp; SOX transcription factor
      cd01388
      Location:40111
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      181711924..181714436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      181392587..181395099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)