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Sox2 Gene Detail
Summary
  • Symbol
    Sox2
  • Name
    SRY (sex determining region Y)-box 2
  • Synonyms
    lcc, Sox-2, ysb
  • Feature Type
    protein coding gene
  • IDs
    MGI:98364
    NCBI Gene: 20674
  • Gene Overview
    MyGene.info: SOX2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:34650405-34652461 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2057 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 16.93 cM, cytoband A2-B
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SOX2, SRY-box 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SOX2, SRY-box 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ANOP3, MCOPS3
  • Links
    NCBI Gene ID: 6657
    neXtProt AC: NX_P48431
    UniProt: P48431

  • Chr Location
    3q26.33; chr3:181711924-181714436 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 68298
    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: SOX2
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human SOX2 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    127 phenotypes from 20 alleles in 23 genetic backgrounds
    23 phenotypes from multigenic genotypes
    5 images
    150 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 targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021249 VEGA Gene Model | MGI Sequence Detail 2057 C57BL/6J ±  kb
    transcript OTTMUST00000050334 VEGA | MGI Sequence Detail 2057 Not Applicable  
    polypeptide OTTMUSP00000023485 VEGA | MGI Sequence Detail 319 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      3 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • PDB
    • InterPro Domains
      IPR009071 High mobility group box domain
      IPR036910 High mobility group box domain superfamily
      IPR022097 Transcription factor SOX
      IPR032643 Transcription factor SOX-2
    Molecular
    Reagents
    less
    • All nucleic 78
      Genomic 1
      cDNA 41
      Primer pair 24
      Other 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14493, MGD-MRK-14503, MGI:1891165, MGI:2181707
    References
    more
    • Summaries
      All 1066
      Developmental Gene Expression 845
      Diseases 1
      Gene Ontology 67
      Phenotypes 150
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:261724 Florio F, et al., Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot-Marie-Tooth 1B Mouse Model. J Neurosci. 2018 May 2;38(18):4275-4287

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory