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    Sox10 SRY (sex determining region Y)-box 10 [ Mus musculus (house mouse) ]

    Gene ID: 20665, updated on 27-Nov-2024

    Summary

    Official Symbol
    Sox10provided by MGI
    Official Full Name
    SRY (sex determining region Y)-box 10provided by MGI
    Primary source
    MGI:MGI:98358
    See related
    Ensembl:ENSMUSG00000033006 AllianceGenome:MGI:98358
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    gt; Dom; Sox21
    Summary
    Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; nervous system development; and neural crest cell migration. Acts upstream of or within several processes, including lacrimal gland development; melanocyte differentiation; and positive regulation of neuroblast proliferation. Located in mitochondrial outer membrane and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; inner ear; mesenchyme derived from neural crest; and nervous system. Used to study Kallmann syndrome; PCWH syndrome; and Waardenburg syndrome type 4C. Human ortholog(s) of this gene implicated in Kallmann syndrome; PCWH syndrome; Waardenburg syndrome type 2E; and Waardenburg syndrome type 4C. Orthologous to human SOX10 (SRY-box transcription factor 10). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in mammary gland adult (RPKM 22.0), cerebellum adult (RPKM 18.7) and 14 other tissues See more
    Orthologs
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    Genomic context

    See Sox10 in Genome Data Viewer
    Location:
    15 E1; 15 37.7 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (79039113..79048690, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (79154913..79164490, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing -like 1 Neighboring gene RIKEN cDNA 1700088E04 gene Neighboring gene STARR-positive B cell enhancer ABC_E7388 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide F Neighboring gene D6 enhancer downstream of Sox10 Neighboring gene MCS1C/MCS2 enhancer region 5' of Sox10 Neighboring gene predicted gene 10863 Neighboring gene predicted gene, 53902 Neighboring gene Sox10 multiple-species conserved sequence 4 Neighboring gene Sox10 multiple-species conserved sequence 5 Neighboring gene Sox10 multiple-species conserved sequence 7 Neighboring gene Sox10 multiple-species conserved sequence 8 Neighboring gene STARR-seq mESC enhancer starr_39171 Neighboring gene predicted gene, 52189 Neighboring gene Sox10 multiple-species conserved sequence 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    gray tremor
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (6) 
    • Radiation induced (2)  1 citation
    • Spontaneous (3) 
    • Targeted (16)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables promoter-specific chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription factor binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell maturation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to progesterone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in enteric nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within enteric nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in enteric nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lacrimal gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within morphogenesis of a branching epithelium IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within morphogenesis of a branching epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in morphogenesis of an epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of Schwann cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Schwann cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neural crest cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neural crest cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oligodendrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within oligodendrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oligodendrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peripheral nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within peripheral nervous system development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gliogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of myelination ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription elongation by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    transcription factor SOX-10
    Names
    SRY-box containing gene 10
    dominant megacolon
    transcription factor SOX-M

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011437.1NP_035567.1  transcription factor SOX-10

      See identical proteins and their annotated locations for NP_035567.1

      Status: VALIDATED

      Source sequence(s)
      AL591921
      Consensus CDS
      CCDS49668.1
      UniProtKB/Swiss-Prot
      O08518, O09141, O54856, P70416, Q04888
      UniProtKB/TrEMBL
      Q8C916
      Related
      ENSMUSP00000039466.5, ENSMUST00000040019.5
      Conserved Domains (2) summary
      cd01388
      Location:103173
      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 vertebrates, and ...
      pfam12444
      Location:1293
      Sox_N; Sox developmental protein N terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      79039113..79048690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)