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FLASH GENE
Symbol SOX10 contributors: mct/npt/pgu - updated : 15-01-2016
HGNC name SRY (sex determining region Y)-box 10
HGNC id 11190
Corresponding disease
DUP22Q13 chromosome 22q13 duplication
KALHL Kallmann Syndrome with hearing loss
PCWH Waardenburg-Shah syndrome, neurologic variant
WS2E Waardenburg syndrome, type 2E
WS4C Waardenburg syndrome, type 4C
YDBH Yemenite deaf -blind hypopigmentation syndrome
Location 22q13.1      Physical location : 38.368.318 - 38.380.539
Synonym symbol(s) DOM, WS4
DNA
TYPE functioning gene
STRUCTURE 12.22 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure target promoter EDNRB and MITF
MAPPING cloned Y linked   status confirmed
Map cen - D22S277 - CSF2RB - IL2RB - SOX10 - D22S283 - KCNJ4 - qter
Authors Gene Map (98)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2882 - 466 - 2008 18786246
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly Homo sapiens
Nervousnerve   highly
 spinal cord    
Olfactory (smell)olfactory bulb     Homo sapiensFetal
Reproductivemale systemtestis    Homo sapiens
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell Homo sapiensAdult
Nervousglia
Nervousneuron
Olfactoryepithelial cell Homo sapiensFetal
ReproductiveSertoli cell Homo sapiens
cell lineage gut neural crest stem cells
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text neural cells, derived cells (namely melanocytes, autonomic and enteric nervous systems)during early development and in glial cells of the peripheral and central nervous system during late development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an SRY-related domain
  • a transactivation domain in the C-terminus (transcription activator, TA), essential and implicated in primarily functions as a transcriptional activator during neural crest development
  • a conserved high mobility group domain
  • HOMOLOGY
    interspecies homolog to murine dominant megacolon (Dom)
    Homologene
    FAMILY
  • SRY-related HMG box family of transcription factor
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity
  • playing an essential role in the development of neural-crest-derived human cell lineages
  • activating the MITF promoter in vitro for normal melanocyte development
  • directly regulating genes expressed in neural crest lineages, including the enteric ganglia and melanocytes
  • nucleocytoplasmic shuttling protein, playing key roles in neural crest development and subsequent cellular differentiation
  • implicated in the etiology of the disorders of sex development
  • able to induce the expression of genes important for male development
  • essential for neural crest (NC) development and for oligodendrocyte differentiation )
  • function in the early neural crest depends on its DNA-binding activity as well as on the presence of the C-terminal TA domain
  • SOX10 activates DHH expression by direct binding to the enhancer and by increasing DHH levels promotes formation of the perineurial sheath
  • plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest (
  • essential for survival and proper differentiation of neural crest cell lineages, where it plays an important role in the generation and maintenance of melanocyte
  • is necessary to maintain the postnatal melanocyte lineage and it is simultaneously prevented from driving differentiation in the melanocyte stem cells (McSCs)
  • in oligodendrocytes of the central nervous system, SOX10 is essential for the induction of myelination
  • SOX8 and SOX10 are jointly required for myelin maintenance and impact myelin gene
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
  • SOX10 is an essential component of the myelin-specific regulatory network
  • SOX8, SOX9 and SOX10 compose the SOXE transcription factor group
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • activating MITF in synergy with PAX3
  • regulating EDNRB in the enteric nervous system
  • interactions between SOX10, EDN3 and EDNRB during enteric nervous system and melanocyte development
  • binds to regulatory sequences in target genes via its conserved high mobility group domain
  • interaction with ARMCX3 (SOX10 is a membrane-associated factor whose transcriptional function is increased by direct interactions with ARMCX3)
  • associates with OLIG1, and the OLIG1/SOX10 complex activates MBP(myelin basic protein) transcription via conserved DNA sequence motifs in the MBP promoter region
  • colocalization of EGR2 binding with SOX10, a transcription factor required for Schwann cell specification and other stages of Schwann cell development
  • MEF2C is direct transcriptional target of SOX10 and MEF2A via a evolutionarily conserved enhancer
  • in neural crest cells TFAP2A directly activates expression of SOX10, which encodes a transcription factor essential for neural crest development
  • SOX10 activates DHH expression in Schwann cells via an enhancer that is located in intron 1 of the DHH gene
  • SOX10 regulation by PHOX2B is pivotal for the development and pathogenesis of the autonomic ganglia
  • functions during terminal differentiation of myelinating glia, at least in part by MED12-dependent recruitment of the Mediator complex
  • SOX10 and ITGB1 interaction in enteric neural crest cell migration
  • TWIST1 interacts with the pro-neural factor SOX10 via its Twist-box domain and binds to the PHOX2B promoter to repress transcriptional activity
  • MYRF cooperates with SOX10 to implement the myelination program as evident from the physical interaction between both proteins and the synergistic activation of several myelin-specific genes
  • during oligodendrocyte maturation, TCF7L2 recruits and cooperates with SOX10 to promote myelination
  • TEAD1 is a novel regulator of PMP22 expression during development in concert with SOX10 and EGR2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WS4C , YDBH , PCWH , WS2E , DUP22Q13 , KALHL
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in a ganglionic bowel of Hirschsprung disease (ws4c)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic expression of Sox10, a close relative of Sox9, in gonads of XX mice resulted in development of testes and male physiology
  • SOX10-null mutant mice showed an almost complete absence of the cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs (