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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
  • Gene Overview
    MyGene.info: SOX3
Location & Maps
more
  • Sequence Map
    ChrX:60891366-60893430 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2065 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 33.66 cM, cytoband A7.3-B
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SOX3, SRY-box 3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SOX3, SRY-box 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GHDX, MRGH, PHP, PHPX, SOXB
  • Links
    NCBI Gene ID: 6658
    neXtProt AC: NX_P41225

  • Chr Location
    Xq27.1; chrX:140502987-140505060 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Sox3 mouse models; 2 with human SOX3 associations

Human Disease Mouse Models
       Mental Retardation, X-Linked, with Panhypopituitarism Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency,   OMIM: 300123 View 1 model
       Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius   OMIM: 236635 View 1 model
       Panhypopituitarism, X-Linked; PHPX   OMIM: 312000
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 4 alleles in 4 genetic backgrounds
    14 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
    11
  • Targeted
    5
  • Transgenic
    6
  • Incidental Mutations
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
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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 OTTMUSG00000017611 VEGA Gene Model | MGI Sequence Detail 2065 C57BL/6J ±  kb
transcript OTTMUST00000042794 VEGA | MGI Sequence Detail 2065 Not Applicable  
polypeptide OTTMUSP00000019219 VEGA | MGI Sequence Detail 450 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    6 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000015428 transcription factor SOX-3
  • InterPro Domains
    IPR009071 High mobility group box domain
    IPR022097 Transcription factor SOX
    IPR029550 Transcription factor SOX-3
Molecular
Reagents
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  • All nucleic 28
    Genomic 2
    cDNA 19
    Primer pair 5
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-14494, MGD-MRK-14504
References
more
  • Summaries
    All 93
    Developmental Gene Expression 57
    Diseases 2
    Gene Ontology 9
    Phenotypes 14
  • 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:229536 Kawasaki K, et al., Expression of Sox genes in tooth development. Int J Dev Biol. 2015;59(10-12):471-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory