Species

Mus musculus

Symbol

Sox2

Name

SRY (sex determining region Y)-box 2

Synonyms

lcc
light coat and circling

Biotype

protein coding gene

Automated Description

Enables DNA binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; neuronal stem cell population maintenance; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including forebrain development; respiratory system development; and sensory organ morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is active in chromatin. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in breast cancer; nasal cavity cancer; and syndromic microphthalmia 3. Orthologous to human SOX2 (SRY-box transcription factor 2).

MGI Description

PHENOTYPE: 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. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR10270

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

Phenotype Term	Annotation details	References
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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr3:34704554...34706610 + (2.06 kb)

Assembly version

GRCm39

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Sox2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

Sox2 role	Sox2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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