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

    Gene ID: 20665, updated on 17-Dec-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, Dec 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

    BioGRID CRISPR Screen Phenotypes (7 hits/78 screens)

    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

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding PubMed 
    enables DNA binding  
    enables DNA-binding transcription activator activity  
    enables DNA-binding transcription activator activity  
    enables DNA-binding transcription factor activity PubMed 
    enables DNA-binding transcription factor activity PubMed 
    enables DNA-binding transcription factor activity  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription factor binding  
    enables DNA-binding transcription factor binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
    enables chromatin binding PubMed 
    enables chromatin binding  
    enables identical protein binding  
    enables identical protein binding  
    enables promoter-specific chromatin binding  
    enables promoter-specific chromatin binding  
    enables protein binding PubMed 
    enables sequence-specific double-stranded DNA binding  
    enables transcription cis-regulatory region binding PubMed 
    enables transcription cis-regulatory region binding  
    enables transcription factor binding PubMed 
    enables transcription factor binding PubMed 
    Items 1 - 25 of 48
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell differentiation PubMed 
    acts_upstream_of_or_within cell maturation PubMed 
    acts_upstream_of_or_within cell maturation PubMed 
    involved_in cellular response to progesterone stimulus  
    involved_in cellular response to xenobiotic stimulus  
    involved_in central nervous system myelination PubMed 
    acts_upstream_of_or_within developmental growth PubMed 
    acts_upstream_of_or_within digestive tract morphogenesis PubMed 
    involved_in enteric nervous system development  
    acts_upstream_of_or_within enteric nervous system development PubMed 
    involved_in enteric nervous system development PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of_or_within lacrimal gland development PubMed 
    acts_upstream_of_or_within melanocyte differentiation PubMed 
    acts_upstream_of_or_within morphogenesis of a branching epithelium PubMed 
    acts_upstream_of_or_within morphogenesis of a branching epithelium PubMed 
    involved_in morphogenesis of an epithelium  
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of Schwann cell proliferation  
    involved_in negative regulation of Schwann cell proliferation  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in neural crest cell migration  
    involved_in neural crest cell migration PubMed 
    acts_upstream_of neuroblast proliferation PubMed 
    involved_in oligodendrocyte development PubMed 
    acts_upstream_of_or_within oligodendrocyte differentiation PubMed 
    involved_in oligodendrocyte differentiation PubMed 
    involved_in peripheral nervous system development  
    acts_upstream_of_or_within peripheral nervous system development PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of gliogenesis PubMed 
    involved_in positive regulation of myelination  
    involved_in positive regulation of myelination  
    acts_upstream_of_or_within positive regulation of neuroblast proliferation PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in regulation of DNA-templated transcription  
    acts_upstream_of transcription by RNA polymerase II PubMed 
    involved_in transcription elongation by RNA polymerase II  
    involved_in transcription elongation by RNA polymerase II  
    Items 1 - 25 of 48
    Component Evidence Code Pubs
    located_in chromatin  
    located_in chromatin  
    located_in cytoplasm PubMed 
    located_in mitochondrial outer membrane PubMed 
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus  

    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)

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    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)
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