About   Help   FAQ
Sox10 Gene Detail
Summary
  • Symbol
    Sox10
  • Name
    SRY (sex determining region Y)-box 10
  • Synonyms
    gt, Sox21
  • Feature Type
    protein coding gene
  • IDs
    MGI:98358
    NCBI Gene: 20665
  • Gene Overview
    MyGene.info: SOX10
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:79154913-79164490 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9578 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 37.70 cM
  • Mapping Data
    31 experiments
Homology
more
  • Human Ortholog
    SOX10, SRY-box 10
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SOX10, SRY-box 10
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DOM, PCWH, WS2E, WS4, WS4C
  • Links
    NCBI Gene ID: 6663
    neXtProt AC: NX_P56693
    UniProt: P56693

  • Chr Location
    22q13.1; chr22:37972312-37984532 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 5055
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SOX10
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Sox10 mouse models; 3 with human SOX10 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    101 phenotypes from 16 alleles in 21 genetic backgrounds
    21 phenotypes from multigenic genotypes
    7 images
    121 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20665 NCBI Gene Model | MGI Sequence Detail 9578 C57BL/6J ±  kb
    transcript NM_011437 RefSeq | MGI Sequence Detail 2713 C57BL/6  
    polypeptide Q04888 UniProt | EBI | MGI Sequence Detail 466 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      80 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 200
      Genomic 7
      cDNA 174
      Primer pair 4
      Other 15

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10325, MGD-MRK-14497, MGD-MRK-38228, MGD-MRK-8879, MGI:109184, MGI:94914, MGI:95866
    References
    more
    • Summaries
      All 535
      Developmental Gene Expression 403
      Diseases 4
      Gene Ontology 22
      Phenotypes 121
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:260791 Truch K, et al., Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease. Hum Mol Genet. 2018 Mar 15;27(6):1078-1092

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory