About   Help   FAQ
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

HCOP human homology predictions: SOX18
Gene Tree: Sox18

Human
homologs
SOX18, SRY (sex determining region Y)-box 18
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 54345
neXtProt AC: NX_P35713

Human Synonyms: HLTRS, HLTS

Human Chr (Location): 20q13.33; chr20:64047726-64049626 (-)  GRCh38.p2

Disease Associations: (2) 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 in Mice Using Sox18 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Sox18 interacts with 63 markers (Mir1b, Mir17, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (49 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: (25 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sox18    NEW 
Molecular
reagents
All nucleic(32) cDNA(30) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000016810 (Evidence)
Ensembl Gene Model ENSMUSG00000046470 (Evidence)
Entrez Gene 20672 (Evidence)
UniGene 264904
DFCI TC1581181
DoTS DT.94145993, DT.94145980, DT.529466
NIA Mouse Gene Index U023794
Consensus CDS Project CCDS17218.1
International Mouse Phenotyping Consortium Status Sox18
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(109)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/28/2015
MGI 5.22
The Jackson Laboratory