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    SOX10 SRY-box 10 [ Homo sapiens (human) ]

    Gene ID: 6663, updated on 7-Feb-2016
    Official Symbol
    SOX10provided by HGNC
    Official Full Name
    SRY-box 10provided by HGNC
    Primary source
    HGNC:HGNC:11190
    See related
    Ensembl:ENSG00000100146; HPRD:03752; MIM:602229; Vega:OTTHUMG00000149913
    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
    DOM; WS4; PCWH; WS2E; WS4C
    Summary
    This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
    Orthologs
    See SOX10 in Epigenomics, MapViewer
    Location:
    22q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (37972312..37984532, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38368319..38380556, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 23 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide F Neighboring gene uncharacterized LOC105373026 Neighboring gene microRNA 6820 Neighboring gene uncharacterized LOC105369188 Neighboring gene microRNA 4534

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
    MedGen: C1836727 OMIM: 609136 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 2E
    MedGen: C2700405 OMIM: 611584 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 4C
    MedGen: C2750452 OMIM: 613266 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-07-18)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-18)

    ClinGen Genome Curation PagePubMed
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC15649

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    enteric nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    lacrimal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of a branching epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    peripheral nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gliogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extrinsic component of mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    transcription factor SOX-10
    Names
    SRY (sex determining region Y)-box 10
    SRY box 10
    SRY-related HMG-box gene 10
    dominant megacolon, mouse, human homolog of

    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_007948.1 RefSeqGene

      Range
      5001..17221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_271

    mRNA and Protein(s)

    1. NM_006941.3NP_008872.1  transcription factor SOX-10

      See identical proteins and their annotated locations for NP_008872.1

      Status: REVIEWED

      Source sequence(s)
      BC007595
      Consensus CDS
      CCDS13964.1
      UniProtKB/TrEMBL
      A0A024R1N6
      UniProtKB/Swiss-Prot
      P56693
      Related
      ENSP00000380093, OTTHUMP00000195095, ENST00000396884, OTTHUMT00000313875
      Conserved Domains (2) summary
      cd01388
      Location:103173
      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 ...
      pfam12444
      Location:1194
      Sox_N; Sox developmental protein N terminal

    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_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      37972312..37984532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      38327060..38339280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)