Sox3 SRY (sex determining region Y)-box 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox3provided by MGI
Official Full Name: SRY (sex determining region Y)-box 3provided by MGI
Primary source: MGI:MGI:98365
See related: Ensembl:ENSMUSG00000045179 AllianceGenome:MGI:98365
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sox-3
Summary: Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including diencephalon development; face development; and sex determination. Acts upstream of or within animal organ development and spermatid differentiation. Predicted to be located in nucleoplasm. Is expressed in several structures, including brain; branchial arch; early conceptus; embryo ectoderm; and gonad. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in X-linked panhypopituitarism. Orthologous to human SOX3 (SRY-box transcription factor 3). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: X A6; X 33.66 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (59934972..59937045, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (60891366..60893430, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide DNA-binding profile of SRY-box transcription factor 3 (SOX3) in mouse testes.
Title: Genome-wide DNA-binding profile of SRY-box transcription factor 3 (SOX3) in mouse testes.
SOX3 promotes generation of committed spermatogonia in postnatal mouse testes.
Title: SOX3 promotes generation of committed spermatogonia in postnatal mouse testes.
Temporal onset of astrocyte gene expression is coordinated by SOX3-mediated repression of SOX9 activation.
Title: Sequentially acting SOX proteins orchestrate astrocyte- and oligodendrocyte-specific gene expression.
Optimal SOXB1 levels are critical for each pluripotent state and for cell fate decisions during exit from naive pluripotency.
Title: Distinct SoxB1 networks are required for naïve and primed pluripotency.
CRISPR/Cas9-assisted gene swap provides strong evidence that SOX2 and SOX3 proteins are functionally equivalent in developing brain and testes.
Title: Functional Equivalence of the SOX2 and SOX3 Transcription Factors in the Developing Mouse Brain and Testes.
Sox3 null mice exhibit a ventral extension of the anterior pituitary that penetrates, and generates a mass beneath, the sphenoid bone
Title: SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
These data define Dbx1 as a direct SOX3 target gene.
Title: Dbx1 is a direct target of SOX3 in the spinal cord.
Sox2 and Sox3 play a role in central nervous system glia and provide mechanistic insights into their function during differentiation processes.
Title: Stem cell factor Sox2 and its close relative Sox3 have differentiation functions in oligodendrocytes.
findings show SOX3 expression is maintained throughout telencephalic neurogenesis and is restricted to progenitor cells with neuroepithelial and radial glial morphologies; it is expressed within adult neurogenic regions; expression within the developing hypothalamus is upregulated in developing neurons and is maintained in a subset of differentiated hypoththalamic cells
Title: Expression of the murine transcription factor SOX3 during embryonic and adult neurogenesis.
Subcommissural organ function is essential for the prevention of hydrocephalus and overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.
Title: Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sox3 (e-PCR), detects polymorphism
- UniSTS:547371

Sox3 (e-PCR), detects polymorphism
- UniSTS:471105

Sox1 (e-PCR), detects polymorphism
- UniSTS:496717

Sox3 (e-PCR), detects polymorphism
- UniSTS:525722

Sox3 (e-PCR), detects polymorphism
- UniSTS:496810

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
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 sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Sertoli cell development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in face development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypothalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pituitary gland development	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
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in sensory organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sex determination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sex determination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription factor SOX-3

Names: SRY-box containing gene 3

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_009237.3 → NP_033263.2 transcription factor SOX-3

Status: VALIDATED

Source sequence(s)

AL807233

Consensus CDS

CCDS30161.2

UniProtKB/TrEMBL

A2AM37, Q5RKW0

Related

ENSMUSP00000115237.3, ENSMUST00000135107.4

Conserved Domains (2) summary

cd01388
Location:143 → 214

SOX-TCF_HMG-box; 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 ...

pfam12336
Location:213 → 306

SOXp; SOX transcription factor