Sox2 SRY (sex determining region Y)-box 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox2provided by MGI
Official Full Name: SRY (sex determining region Y)-box 2provided by MGI
Primary source: MGI:MGI:98364
See related: Ensembl:ENSMUSG00000074637 AllianceGenome:MGI:98364
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: lcc; ysb; Sox-2
Summary: 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]
Orthologs: human all
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Genomic context

Location:: 3 A3; 3 16.93 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (34704144..34706610)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (34649995..34652461)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Early neural specification of stem cells is mediated by a set of SOX2-dependent neural-associated enhancers.
Title: Early neural specification of stem cells is mediated by a set of SOX2-dependent neural-associated enhancers.
Jmjd2c maintains the ALDH[bri+] cancer stemness with transcription factor SOX2 in lung squamous cell carcinoma.
Title: Jmjd2c maintains the ALDH(bri+) cancer stemness with transcription factor SOX2 in lung squamous cell carcinoma.
Transcription Factors Sox2 and Sox3 Directly Regulate the Expression of Genes Involved in the Onset of Oligodendrocyte Differentiation.
Title: Transcription Factors Sox2 and Sox3 Directly Regulate the Expression of Genes Involved in the Onset of Oligodendrocyte Differentiation.
Keratinocyte-Specific SOX2 Overexpression Suppressed Pressure Ulcer Formation after Cutaneous Ischemia-Reperfusion Injury via Enhancement of Amphiregulin Production.
Title: Keratinocyte-Specific SOX2 Overexpression Suppressed Pressure Ulcer Formation after Cutaneous Ischemia-Reperfusion Injury via Enhancement of Amphiregulin Production.
Pioneer activity distinguishes activating from non-activating SOX2 binding sites.
Title: Pioneer activity distinguishes activating from non-activating SOX2 binding sites.
GSK3beta-driven SOX2 overexpression is a targetable vulnerability in esophageal squamous cell carcinoma.
Title: GSK3β-driven SOX2 overexpression is a targetable vulnerability in esophageal squamous cell carcinoma.
USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities.
Title: USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities.
Distinct roles for SOX2 and SOX21 in differentiation, distribution and maturation of pulmonary neuroendocrine cells.
Title: Distinct roles for SOX2 and SOX21 in differentiation, distribution and maturation of pulmonary neuroendocrine cells.
Sox2 is required in supporting cells for normal levels of vestibular hair cell regeneration in adult mice.
Title: Sox2 is required in supporting cells for normal levels of vestibular hair cell regeneration in adult mice.
SOX2 suppresses osteoblast differentiation of MC3T3-E1 cells through activating the transcription of LGR4.
Title: SOX2 suppresses osteoblast differentiation of MC3T3-E1 cells through activating the transcription of LGR4.

Submit: New GeneRIF Correction See all GeneRIFs (362)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (10) 1 citation
Radiation induced (1) 1 citation
Targeted (25) 1 citation
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sox2 (e-PCR), detects polymorphism
- UniSTS:516866

Sox2 (e-PCR), detects polymorphism
- UniSTS:532256

Sox2 (e-PCR), detects polymorphism
- UniSTS:547370

Sox2 (e-PCR), detects polymorphism
- UniSTS:164916

UniSTS:471104 (e-PCR)
- UniSTS:471104

Sox2 (e-PCR), detects polymorphism
- UniSTS:471104

Sox2 (e-PCR), detects polymorphism
- UniSTS:547912

Sox2 (e-PCR), detects polymorphism
- UniSTS:547913

Sox2 (e-PCR), detects polymorphism
- UniSTS:547914

Sox2 (e-PCR), detects polymorphism
- UniSTS:474706

Sox2 (e-PCR), detects polymorphism
- UniSTS:144487

Sox2 (e-PCR), detects polymorphism
- UniSTS:508019

PMC304100P2 (e-PCR)
- UniSTS:272527

Sox2 (e-PCR), detects polymorphism
- UniSTS:499114

X94127 (e-PCR)
- UniSTS:125893

Sox2 (e-PCR), detects polymorphism
- UniSTS:532687

Sox2 (e-PCR), detects polymorphism
- UniSTS:548082

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables miRNA binding	IEA Inferred from Electronic Annotation more info
enables miRNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in adenohypophysis development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adenohypophysis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell fate commitment	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to cadmium ion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus involved in equilibrioception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within diencephalon morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endodermal cell fate specification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endodermal cell fate specification	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in eye development	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within forebrain neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear development	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens induction in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lung alveolus development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within male genitalia development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell cycle G1/S phase transition	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell cycle G1/S phase transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal stem cell population maintenance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within olfactory placode formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigment biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of myofibroblast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of myofibroblast cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of neurogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to growth factor	ISO Inferred from Sequence Orthology more info
involved_in response to oxygen-glucose deprivation	IEA Inferred from Electronic Annotation more info
involved_in response to oxygen-glucose deprivation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in response to wounding	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within somatic stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic stem cell population maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue regeneration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within tongue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of trophectodermal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor SOX-2

Names: SRY-box containing gene 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011443.4 → NP_035573.3 transcription factor SOX-2

Status: REVIEWED

Source sequence(s)

AL606746, AW494059, BM938133, BY713734, CD354017, CF164429, CX205480

Consensus CDS

CCDS38413.1

UniProtKB/Swiss-Prot

P48432

UniProtKB/TrEMBL

Q60I23

Related

ENSMUSP00000096755.3, ENSMUST00000099151.6

Conserved Domains (2) summary

cd01388
Location:42 → 113

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam12336
Location:112 → 202

SOXp; SOX transcription factor