Sox4 SRY (sex determining region Y)-box 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox4provided by MGI
Official Full Name: SRY (sex determining region Y)-box 4provided by MGI
Primary source: MGI:MGI:98366
See related: Ensembl:ENSMUSG00000076431 AllianceGenome:MGI:98366
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-4
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and miRNA binding activity. Involved in several processes, including animal organ development; nervous system development; and positive regulation of cell communication. Acts upstream of or within endocrine pancreas development; hematopoietic stem cell homeostasis; and somatic stem cell population maintenance. Located in nucleus. Part of transcription regulator complex. Is active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hindlimb long bone; and sensory organ. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome and urinary bladder cancer. Orthologous to human SOX4 (SRY-box transcription factor 4). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 13 A3.1; 13 12.87 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (29132902..29137682, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (28948919..28953699, complement)

Chromosome 13 - NC_000079.7 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?

SOX4 is a novel phenotypic regulator of endothelial cells in atherosclerosis revealed by single-cell analysis.
Title: SOX4 is a novel phenotypic regulator of endothelial cells in atherosclerosis revealed by single-cell analysis.
SOX4 promotes beige adipocyte-mediated adaptive thermogenesis by facilitating PRDM16-PPARgamma complex.
Title: SOX4 promotes beige adipocyte-mediated adaptive thermogenesis by facilitating PRDM16-PPARγ complex.
SOX4 and RELA Function as Transcriptional Partners to Regulate the Expression of TNF- Responsive Genes in Fibroblast-Like Synoviocytes.
Title: SOX4 and RELA Function as Transcriptional Partners to Regulate the Expression of TNF- Responsive Genes in Fibroblast-Like Synoviocytes.
The transcription factor Sox4 is required for thymic tuft cell development.
Title: The transcription factor Sox4 is required for thymic tuft cell development.
Regulation of a progenitor gene program by SOX4 is essential for mammary tumor proliferation.
Title: Regulation of a progenitor gene program by SOX4 is essential for mammary tumor proliferation.
HOXA9 promotes MYC-mediated leukemogenesis by maintaining gene expression for multiple anti-apoptotic pathways.
Title: HOXA9 promotes MYC-mediated leukemogenesis by maintaining gene expression for multiple anti-apoptotic pathways.
Suppression of Sox4 protects against myocardial ischemic injury by reduction of cardiac apoptosis in mice.
Title: Suppression of Sox4 protects against myocardial ischemic injury by reduction of cardiac apoptosis in mice.
SOX8 is an important mediator of Sertoli cell maturation. SOX8 regulates gene expression related to the extracellular matrix. SOX4 and SOX8 influence gene expression involved in cell-to-cell interactions.
Title: Transcriptomic analysis of overexpressed SOX4 and SOX8 in TM4 Sertoli cells with emphasis on cell-to-cell interactions.
Data indicate that the reactivated embryonic gene program during wound repair and that SRY-box containing gene 11 protein (SOX11) and SRY-box containing gene 4 protein (SOX4) play a central role in this process.
Title: SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair.
Upregulation of tenascin C mRNA was observed with overexpression of Sox4, suggesting a causal relationship between the two events in mammary gland Involution.
Title: Transcription Factor Sox4 as a Potential Player in Mammary Gland Involution.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Variation

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Alleles

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

Targeted (6) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

AA682046 (e-PCR)
- UniSTS:160280

Sox4 (e-PCR), detects polymorphism
- UniSTS:547372

Sox4 (e-PCR), detects polymorphism
- UniSTS:498789

Sox4 (e-PCR), detects polymorphism
- UniSTS:144488

UniSTS:496745 (e-PCR)
- UniSTS:496745

Sox4 (e-PCR), detects polymorphism
- UniSTS:496745

RH79983 (e-PCR)
- UniSTS:86436

MARC_10647-10648:1000474126:1 (e-PCR)
- UniSTS:267182

Homology

Homologs of the Sox4 gene: The Sox4 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 301 organisms have orthologs with human gene Sox4
Orthologs

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	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	ISO Inferred from Sequence Orthology more info
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in ascending aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial septum primum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in glial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb bud formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in neural tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuroepithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in noradrenergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of N-terminal peptidyl-lysine acetylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gamma-delta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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
involved_in positive regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in pro-B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA damage response, signal transduction by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic stem cell population maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
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-4

Names: SRY-box containing gene 4

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_009238.3 → NP_033264.2 transcription factor SOX-4

See identical proteins and their annotated locations for NP_033264.2

Status: VALIDATED

Source sequence(s)

AK153771, BB570163, BB678274, BC052736, EH106705

Consensus CDS

CCDS26411.1

UniProtKB/Swiss-Prot

Q06831, Q5SW95

Related

ENSMUSP00000100013.2, ENSMUST00000067230.6

Conserved Domains (1) summary

cd01388
Location:58 → 129

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 ...