About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:34704554-34706610 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 16.93 cM, cytoband A2-B
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    54 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98364
 protein coding gene Chr3:34704144-34706610 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027150
 protein coding gene Chr3:32330500-32332556 (+)
A/J MGP_AJ_G0027110
 protein coding gene Chr3:31800862-31802912 (+)
AKR/J MGP_AKRJ_G0027079
 protein coding gene Chr3:32352893-32354949 (+)
BALB/cJ MGP_BALBcJ_G0027122
 protein coding gene Chr3:31459834-31461890 (+)
C3H/HeJ MGP_C3HHeJ_G0026865
 protein coding gene Chr3:32394739-32396789 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027568
 protein coding gene Chr3:33918907-33920963 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024929
 protein coding gene Chr3:29570862-29572919 (+)
CAST/EiJ MGP_CASTEiJ_G0026318
 protein coding gene Chr3:32243348-32245407 (+)
CBA/J MGP_CBAJ_G0026842
 protein coding gene Chr3:34811347-34813397 (+)
DBA/2J MGP_DBA2J_G0026976
 protein coding gene Chr3:31281299-31283355 (+)
FVB/NJ MGP_FVBNJ_G0026944
 protein coding gene Chr3:30735458-30737514 (+)
LP/J MGP_LPJ_G0027088
 protein coding gene Chr3:33111740-33113796 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026964
 protein coding gene Chr3:37298540-37300596 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027627
 protein coding gene Chr3:32143233-32145289 (+)
PWK/PhJ MGP_PWKPhJ_G0026051
 protein coding gene Chr3:30860321-30862381 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025863
 protein coding gene Chr3:31557413-31559468 (+)
WSB/EiJ MGP_WSBEiJ_G0026392
 protein coding gene Chr3:32180683-32182733 (+)



Homology
more
  • Human Ortholog
    SOX2, SRY-box transcription factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOX2, SRY-box transcription factor 2
  • Synonyms
    ANOP3, MCOPS3
  • Links
    NCBI Gene ID: 6657
    neXtProt AC: NX_P48431
    UniProt: P48431

  • Chr Location
    3q26.33; chr3:181711925-181714436 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SOX2 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    125 phenotypes from 19 alleles in 21 genetic backgrounds
    50 phenotypes from multigenic genotypes
    5 images
    365 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
less
  • All GO Annotations
    173
  • GO References
    77
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    3805
  • Tissues
    962
  • cDNA Data
    46
  • Literature Summary
    1508
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074637 Ensembl Gene Model | MGI Sequence Detail 2057 C57BL/6J ±  kb
    transcript ENSMUST00000099151 Ensembl | MGI Sequence Detail 2057 Not Applicable  
    polypeptide ENSMUSP00000096755 Ensembl | MGI Sequence Detail 319 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 133
      Genomic 2
      cDNA 53
      Primer pair 48
      Other 30

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14493, MGD-MRK-14503, MGI:1891165, MGI:2181707
    References
    more
    • Summaries
      All 1907
      Developmental Gene Expression 1508
      Diseases 1
      Gene Ontology 77
      Phenotypes 365
    • 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:357896 Sheridan D, et al., Gonadotrophs have a dual origin, with most derived from pituitary stem cells during minipuberty. bioRxiv. 2024;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory