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

    Gene ID: 6663, updated on 8-Jul-2021

    Summary

    Official Symbol
    SOX10provided by HGNC
    Official Full Name
    SRY-box transcription factor 10provided by HGNC
    Primary source
    HGNC:HGNC:11190
    See related
    Ensembl:ENSG00000100146 MIM:602229
    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]
    Expression
    Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues See more
    Orthologs
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    Genomic context

    See SOX10 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37972312..37984555, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38368319..38380562, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 23 Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene microRNA 6820 Neighboring gene VISTA enhancer hs564 Neighboring gene microRNA 4534

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC15649

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to progesterone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in enteric nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lacrimal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of a branching epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of an epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of Schwann cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neural crest cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in oligodendrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peripheral nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gliogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transcription elongation from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in extrinsic component of mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    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.

    Genomic

    1. NG_007948.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_006941.4NP_008872.1  transcription factor SOX-10

      See identical proteins and their annotated locations for NP_008872.1

      Status: REVIEWED

      Source sequence(s)
      AL031587
      Consensus CDS
      CCDS13964.1
      UniProtKB/Swiss-Prot
      P56693
      UniProtKB/TrEMBL
      A0A024R1N6
      Related
      ENSP00000380093.2, ENST00000396884.8
      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:1293
      Sox_N; Sox developmental protein N terminal

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      37972312..37984555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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