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Sox3 Gene Detail
Summary
  • Symbol
    Sox3
  • Name
    SRY (sex determining region Y)-box 3
  • Synonyms
    Sox-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:98365
    NCBI Gene: 20675
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:59934972-59937036 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 33.66 cM, cytoband A7.3-B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    51 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98365
 protein coding gene ChrX:59934972-59937045 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035759
 protein coding gene ChrX:56288377-56290441 (-)
A/J MGP_AJ_G0035741
 protein coding gene ChrX:56483552-56485617 (-)
AKR/J MGP_AKRJ_G0035661
 protein coding gene ChrX:58004889-58006955 (-)
BALB/cJ MGP_BALBcJ_G0035728
 protein coding gene ChrX:55836973-55839038 (-)
C3H/HeJ MGP_C3HHeJ_G0035430
 protein coding gene ChrX:56829519-56831583 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036257
 protein coding gene ChrX:57801637-57803701 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033109
 protein coding gene ChrX:56263221-56265294 (-)
CAST/EiJ MGP_CASTEiJ_G0034723
 protein coding gene ChrX:42584883-42586945 (-)
CBA/J MGP_CBAJ_G0035405
 protein coding gene ChrX:59498785-59500849 (-)
DBA/2J MGP_DBA2J_G0035559
 protein coding gene ChrX:56045346-56047410 (-)
FVB/NJ MGP_FVBNJ_G0035509
 protein coding gene ChrX:55577387-55579451 (-)
LP/J MGP_LPJ_G0035647
 protein coding gene ChrX:56857787-56859851 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035545
 protein coding gene ChrX:61069225-61071289 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036273
 protein coding gene ChrX:56321843-56323907 (-)
PWK/PhJ MGP_PWKPhJ_G0034418
 protein coding gene ChrX:40763868-40765932 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034263
 protein coding gene ChrX:43447361-43449431 (-)
WSB/EiJ MGP_WSBEiJ_G0034866
 protein coding gene ChrX:55781478-55783541 (-)



Homology
more
  • Human Ortholog
    SOX3, SRY-box transcription factor 3
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOX3, SRY-box transcription factor 3
  • Synonyms
    GHDX, MRGH, PHP, PHPX, SOXB
  • Links
    NCBI Gene ID: 6658
    neXtProt AC: NX_P41225
    UniProt: P41225

  • Chr Location
    Xq27.1; chrX:140502985-140505069 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sox3 mouse models; 1 with human SOX3 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 4 alleles in 4 genetic backgrounds
    20 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.
Sex determination is normal in both homozygous mutant female and hemizygous mutant male mice, however, gonadal and developmental defects are observed in both sexes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    11
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
    1008
  • Tissues
    199
  • cDNA Data
    21
  • Literature Summary
    78
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000045179 Ensembl Gene Model | MGI Sequence Detail 2065 C57BL/6J ±  kb
    transcript ENSMUST00000135107 Ensembl | MGI Sequence Detail 2065 Not Applicable  
    polypeptide ENSMUSP00000115237 Ensembl | MGI Sequence Detail 450 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      Genomic 3
      cDNA 21
      Primer pair 8
      Other 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14494, MGD-MRK-14504
    References
    more
    • Summaries
      All 125
      Developmental Gene Expression 78
      Diseases 1
      Gene Ontology 11
      Phenotypes 20
    • Earliest
      J:10645 Gubbay J, et al., A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes [see comments]. Nature. 1990 Jul 19;346(6281):245-50
    • Latest
      J:332291 Song H, et al., Tbx2 and Tbx3 regulate cell fate progression of the otic vesicle for inner ear development. Dev Biol. 2022 Dec 12;494:71-84
    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)
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    Funding Information
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    11/05/2024
    MGI 6.24     		The Jackson Laboratory