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    Sox2 SRY (sex determining region Y)-box 2 [ Mus musculus (house mouse) ]

    Gene ID: 20674, updated on 18-Jul-2017
    Official Symbol
    Sox2provided by MGI
    Official Full Name
    SRY (sex determining region Y)-box 2provided by MGI
    Primary source
    MGI:MGI:98364
    See related
    Ensembl:ENSMUSG00000074637 Vega:OTTMUSG00000021249
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    lcc; ysb; Sox-2
    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 a similar gene in human 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, Sep 2015]
    Orthologs
    Location:
    3 A3; 3 16.93 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (34649995..34652461)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (34548927..34551383)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene SOX2 overlapping transcript (non-protein coding) Neighboring gene predicted gene, 42205 Neighboring gene microRNA 1897 Neighboring gene predicted gene, 34941 Neighboring gene predicted gene 3143

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    miRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    transcription regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    adenohypophysis development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anatomical structure formation involved in morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle arrest ISO
    Inferred from Sequence Orthology
    more info
     
    cell fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell fate specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detection of mechanical stimulus involved in equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detection of mechanical stimulus involved in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    diencephalon morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endodermal cell fate specification ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    epithelial tube branching involved in lung morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    forebrain neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lens induction in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    lung alveolus development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    male genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neuron fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuronal stem cell population maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    olfactory placode formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    pigment biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cysteine-type endopeptidase activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neurogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    response to growth factor ISO
    Inferred from Sequence Orthology
    more info
     
    response to organic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic stem cell population maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tongue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor SOX-2
    Names
    SRY-box containing gene 2

    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.

    mRNA and Protein(s)

    1. NM_011443.4NP_035573.3  transcription factor SOX-2

      See identical proteins and their annotated locations for NP_035573.3

      Status: REVIEWED

      Source sequence(s)
      AL606746, AW494059, BM938133, BY713734, CD354017, CF164429, CX205480
      Consensus CDS
      CCDS38413.1
      UniProtKB/Swiss-Prot
      P48432
      UniProtKB/TrEMBL
      Q60I23
      Related
      ENSMUSP00000096755.2, OTTMUSP00000023485, ENSMUST00000099151.5, OTTMUST00000050334
      Conserved Domains (2) summary
      cd01388
      Location:42113
      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 ...
      pfam12336
      Location:112202
      SOXp; SOX transcription factor

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      34649995..34652461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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