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

Gene ID: 20672, updated on 2-Nov-2024

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, Nov 2024]
Expression
Biased expression in lung adult (RPKM 181.7), ovary adult (RPKM 87.7) and 12 other tissues See more
Orthologs
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Genomic context

See Sox18 in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 29797 Neighboring gene predicted gene, 25879 Neighboring gene transcription elongation factor A (SII), 2 Neighboring gene regulator of G-protein signaling 19

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_009236.2NP_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:78149
    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:187375
    Sox_C_TAD; Sox C-terminal transactivation domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    181311630..181313433 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)