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Sox18
Gene Detail
Symbol

Name
ID
Sox18
SRY (sex determining region Y)-box 18
MGI:103559
Synonyms
Ragl, Sry-related HMG-box gene 18
Feature Type
protein coding gene
Genetic Map
Chromosome 2
103.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(47)
Sequence Map
Chr2:181669836-181671640 bp, - strand
From VEGA annotation of GRCm38

  1805 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7546  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sox18

Human
homologs
Human Homolog SOX18, SRY (sex determining region Y)-box 18
NCBI Gene ID 54345
neXtProt AC  NX_P35713
Human Synonyms  HLTS
Human Chr (Location)  20q13.33; chr20:64047726-64049626 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SOX18
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Spontaneous(4) Targeted(4)
Incidental mutations (data from APF )
 
Homozygotes for some mutant alleles show low prenatal viability and cardiovascular defects. Most mutants show darkened coats, reduced zigzag hairs and, depending on the allele, sparse abnormal hair and edema. Heterozygotes show similar or milder defects.
 
Human Diseases Modeled Using Mouse Sox18 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Sox18 interacts with 63 markers (Mir1b, Mir17, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process angiogenesis, blood vessel development, ...
Component nuclear chromatin, nuclear transcription factor complex, ...
Function DNA binding, protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (222)    Tissues (213)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 219
RT-PCR 3
cDNA source data(29)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) cDNA(30) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016810 (Evidence)
Ensembl Gene ModelENSMUSG00000046470 (Evidence)
Entrez Gene20672 (Evidence)
UniGene264904
DFCITC1581181
DoTSDT.529466, DT.94145980, DT.94145993
NIA Mouse Gene IndexU023794
Consensus CDS ProjectCCDS17218.1
International Mouse Knockout Project StatusSox18
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016810 VEGA Gene Model | MGI Sequence Detail 1805 C57BL/6J ±  kb
transcript OTTMUST00000040830 VEGA | MGI Sequence Detail 1620 Not Applicable 
polypeptide OTTMUSP00000018259 VEGA | MGI Sequence Detail 377 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(2) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(18 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR021934 Sox C-terminal transactivation domain
Protein Ontology PR:000015425 transcription factor SOX-18
References
(Earliest) J:86 Carter TC, et al., Ragged, a semidominant coat texture mutant. J Hered. 1954;45:151-154
(Latest) J:211805 Coxam B, et al., Pkd1 regulates lymphatic vascular morphogenesis during development. Cell Rep. 2014 May 8;7(3):623-33
All references(110)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-13743, MGD-MRK-24444, MGI:1336180, MGI:2138921, MGI:97841

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory