Sox2 Gene Summary [Mouse]
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in a similar gene in human have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (Sox2ot). [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | Sox2 |
| Official Name | SRY (sex determining region Y)-box 2 [Source:MGI Symbol;Acc:MGI:98364] |
| Ensembl ID | ENSMUSG00000074637 |
| Bio databases IDs | |
| Aliases | SRY (sex determining region Y)-box 2 |
| Synonyms | ANOP3, lcc, LOC100912162, MCOPS3, RGD1565646, Sry-2, SRY-box transcription factor 2, SRY (sex determining region Y)-box 2, ysb |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Sox2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- SOX transcription factor
- nuclear localization sequence
- transcription activation domain
- enzyme binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- HMG2 like domain
- DNA binding
- RNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- serine-rich region
- double-stranded DNA binding
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- transcription factor activity
Pathways
Biological processes and signaling networks where the Sox2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Embryonic Stem Cell Differentiation into Cardiac Lineages
- Human Embryonic Stem Cell Pluripotency
- Mouse Embryonic Stem Cell Pluripotency
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
- Transcriptional Regulatory Network in Embryonic Stem Cells
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- tumorigenesis
- neoplasia
- lung adenocarcinoma
- non-small cell lung cancer
- epithelial cancer
- epithelial neoplasia
- cancer
- non-small cell lung carcinoma
- breast cancer
phenotypes
- abnormal neural tube morphology
- preweaning lethality complete penetrance
- abnormal Ebner's gland morphology
- abnormal adenohypophysis development
- abnormal auchene hair morphology
- abnormal awl hair morphology
- abnormal brain morphology
- abnormal cerebral cortex morphology
- abnormal cochlear hair cell morphology
- abnormal digestive system physiology
- abnormal ectoderm development
- abnormal ependyma morphology
- abnormal epiglottis morphology
- abnormal esophageal squamous epithelium morphology
- abnormal esophagus morphology
- abnormal fungiform papillae morphology
- abnormal guard hair morphology
- abnormal inner ear morphology
- abnormal nervous system morphology
- abnormal nervous system physiology
- abnormal neuron differentiation
- abnormal palate morphology
- abnormal pinna reflex
- abnormal pituitary gland morphology
- abnormal placing response
- abnormal salivary gland morphology
- abnormal semicircular canal morphology
- abnormal seminiferous tubule morphology
- abnormal sensory capabilities/reflexes/nociception
- abnormal stomach morphology
- abnormal sulcus ampullaris morphology
- abnormal thalamus morphology
- abnormal tongue morphology
- abnormal vestibular saccule morphology
- abnormal zigzag hair morphology
- absent anterior lingual gland
- absent cochlear hair cells
- absent cochlear nerve compound action potential
- absent ectoplacental cone
- absent egg cylinders
- absent embryonic epiblast
- absent palatine gland
- absent vestibular hair cells
- anophthalmia
- bidirectional circling
- bifurcated Rathke's pouch
- circling
- deafness
- decreased adrenocorticotropin level
- decreased body size
- decreased cochlear coiling
- decreased cochlear nerve compound action potential
- decreased corpus callosum size
- decreased growth hormone level
- decreased luteinizing hormone level
- decreased male germ cell number
- decreased prolactin level
- decreased somatotroph cell number
- decreased thyroid-stimulating hormone level
- dilated cochlea
- diluted coat color
- disorganized retinal layers
- dystonia
- edema
- embryonic lethality between implantation and placentation complete penetrance
- embryonic lethality between implantation and somite formation complete penetrance
- enlarged lateral ventricles
- enlarged third ventricle
- esophageal atresia
- gastrointestinal ulcer
- head bobbing
- head tossing
- impaired righting response
- impaired swimming
- increased trophoblast giant cell number
- microphthalmia
- motor neuron degeneration
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- nonconvulsive seizures
- oligozoospermia
- optic nerve hypoplasia
- postnatal lethality
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality incomplete penetrance
- reduced male fertility
- respiratory distress
- retina hyperplasia
- small adenohypophysis
- small testis
- small utricle
- small vestibular saccule
- stomach inflammation
- tongue inflammation
- tracheoesophageal fistula
- yellow coat color
role in cell
- survival
- expression in
- proliferation
- apoptosis
- number
- degradation in
- phosphorylation in
- activation in
- formation in
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sox2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to growth factor stimulus
- inner ear development
- positive regulation of cell-cell adhesion
- negative regulation of neuron differentiation
- response to wounding
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- neuronal stem cell maintenance
- negative regulation of transcription from RNA polymerase II promoter
- glial cell fate commitment
- forebrain development
- positive regulation of transcription, DNA-dependent
- osteoblast differentiation
- somatic stem cell maintenance
- neuron differentiation
- adenohypophysis development
- regulation of transcription, DNA-dependent
- positive regulation of cell differentiation
- brain development
- positive regulation of MAPK cascade
- tissue regeneration
- pituitary gland development
- negative regulation of canonical Wnt receptor signaling pathway
- eye development
- regulation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of epithelial cell proliferation
- endodermal cell fate specification
- regulation of gene expression
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- nuclear speck
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity