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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
Location & Maps
more
  • Sequence Map
    Chr15:79154913-79164490 bp, - strand
  • From Ensembl 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

  • Chr Location
    22q13.1; chr22:37972312-37984532 (-)  GRCh38.p2

  • 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
    1 with Sox10 mouse models; 3 with human SOX10 associations

Human Disease Mouse Models
       Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH   OMIM: 609136 View 1 model
       Waardenburg Syndrome, Type 2E; WS2E   OMIM: 611584
Waardenburg Syndrome, Type 4c; WS4C   OMIM: 613266
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 15 alleles in 17 genetic backgrounds
    21 phenotypes from multigenic genotypes
    7 images
    108 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.
  • All Mutations and Alleles
    22
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Radiation induced
    4
  • Spontaneous
    3
  • Targeted
    11
  • Transgenic
    1
  • Genomic Mutations
    4 involving Sox10
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000033006 Ensembl Gene Model | MGI Sequence Detail 9578 C57BL/6J ±  kb
transcript ENSMUST00000040019 Ensembl | MGI Sequence Detail 2713 Not Applicable  
polypeptide ENSMUSP00000039466 Ensembl | 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 197
    Genomic 7
    cDNA 174
    Primer pair 3
    Other 13

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10325, MGD-MRK-14497, MGD-MRK-38228, MGD-MRK-8879, MGI:109184, MGI:94914, MGI:95866
References
more
  • Summaries
    All 458
    Developmental Gene Expression 363
    Diseases 2
    Gene Ontology 20
    Phenotypes 108
  • Earliest
    J:13898 Sweet HO, Gray tremor (gt). Mouse News Lett. 1981;65:28
  • Latest
    J:236148 Muth KN, et al., The Dual-specificity phosphatase Dusp15 is regulated by Sox10 and Myrf in Myelinating Oligodendrocytes. Glia. 2016 Dec;64(12):2120-2132

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory