Sox18 SRY (sex determining region Y)-box 18 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox18provided by MGI
Official Full Name: SRY (sex determining region Y)-box 18provided by MGI
Primary source: MGI:MGI:103559
See related: Ensembl:ENSMUSG00000046470 AllianceGenome:MGI:103559
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: Ra; Ragl
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including circulatory system development; hair follicle development; and stem cell fate specification. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; integumental system; and urinary system. Human ortholog(s) of this gene implicated in hypotrichosis-lymphedema-telangiectasia syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Orthologous to human SOX18 (SRY-box transcription factor 18). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in lung adult (RPKM 181.7), ovary adult (RPKM 87.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.71 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (181311630..181313433, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181669837..181671640, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGF-beta1-Induced SOX18 Elevation Promotes Hepatocellular Carcinoma Progression and Metastasis Through Transcriptionally Upregulating PD-L1 and CXCL12.
Title: TGF-β1-Induced SOX18 Elevation Promotes Hepatocellular Carcinoma Progression and Metastasis Through Transcriptionally Upregulating PD-L1 and CXCL12.
SOX18 enhances the proliferation and migration of airway smooth muscle cells induced by tumor necrosis factor-alpha via the regulation of Notch1 signaling.
Title: SOX18 enhances the proliferation and migration of airway smooth muscle cells induced by tumor necrosis factor-α via the regulation of Notch1 signaling.
Ectopic expression of SOX18 in Basal cell carcinoma negatively regulates tumour progression.
Title: Ectopic expression of SOX18 in Basal cell carcinoma negatively regulates tumour progression.
dimerization is a specific feature of SOX18 that enables the recruitment of key endothelial transcription factors
Title: Homodimerization regulates an endothelial specific signature of the SOX18 transcription factor.
NF-kappaB-dependent decreases in the SOX18-CLDN5 axis are involved in the disruption of human endothelial cell barrier integrity associated with LPS-mediated acute lung injury.
Title: LPS-induced Acute Lung Injury Involves NF-κB-mediated Downregulation of SOX18.
Data show that SOX7, SOX17 and SOX18 (SOXF) transcriptional factors are induced during satellite cell specification.
Title: SOXF factors regulate murine satellite cell self-renewal and function through inhibition of β-catenin activity.
Sox18 acts as a mesenchymal molecular switch necessary for the formation and function of the dermal papilla in all hair types.
Title: Dominant-negative Sox18 function inhibits dermal papilla maturation and differentiation in all murine hair types.
combined deletion of Sox7, Sox17, and Sox18 at the onset of retinal angiogenesis leads to a dense capillary plexus with a nearly complete loss of radial arteries and veins, whereas the presence of a single Sox17 allele largely restores arterial identity
Title: Sox7, Sox17, and Sox18 Cooperatively Regulate Vascular Development in the Mouse Retina.
Sox18 genetically interacts with VegfC to regulate lymphangiogenesis in Zebrafish.
Title: Sox18 genetically interacts with VegfC to regulate lymphangiogenesis in zebrafish.
Disrupted SOXF function results in epidermolysis bullosa-like skin phenotypes.
Title: Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Spontaneous (4)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:471103 (e-PCR)
- UniSTS:471103

Sox18 (e-PCR), detects polymorphism
- UniSTS:471103

AI385749 (e-PCR)
- UniSTS:165237

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 DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA 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 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
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell maturation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endocardial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endocardium formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment of endothelial barrier	IEA Inferred from Electronic Annotation more info
involved_in establishment of endothelial barrier	ISO Inferred from Sequence Orthology more info
involved_in hair cycle process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphangiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphangiogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lymphatic endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within regulation of stem cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within stem cell fate specification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vasculogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology 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-18

Names: SRY-box containing gene 18; Sry-related HMG-box gene 18; ragged

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_009236.2 → NP_033262.2 transcription factor SOX-18

See identical proteins and their annotated locations for NP_033262.2

Status: VALIDATED

Source sequence(s)

AK144281, AV167860, BY141110

Consensus CDS

CCDS17218.1

UniProtKB/Swiss-Prot

P43680, Q3UND6, Q9EQ73

Related

ENSMUSP00000062759.6, ENSMUST00000054491.6

Conserved Domains (2) summary

cd01388
Location:78 → 149

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 ...

pfam12067
Location:187 → 375

Sox_C_TAD; Sox C-terminal transactivation domain