About   Help   FAQ
Sox18 Gene Detail
Summary
  • Symbol
    Sox18
  • Name
    SRY (sex determining region Y)-box 18
  • Synonyms
    Ragl, Sry-related HMG-box gene 18
  • Feature Type
    protein coding gene
  • IDs
    MGI:103559
    NCBI Gene: 20672
  • Gene Overview
    MyGene.info: SOX18
Location & Maps
more
  • Sequence Map
    Chr2:181669836-181671640 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1805 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 103.71 cM
  • Mapping Data
    47 experiments
Homology
more
  • Human Ortholog
    SOX18, SRY-box 18
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SOX18, SRY-box 18
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HLTRS, HLTS
  • Links
    NCBI Gene ID: 54345
    neXtProt AC: NX_P35713

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

Human Diseases
more
  • Diseases
    1 with Sox18 mouse models; 2 with human SOX18 associations

Human Disease Mouse Models
       Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS   OMIM: 607823 View 1 model
       Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome; HLTRS   OMIM: 137940
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 8 alleles in 11 genetic backgrounds
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    1
  • Spontaneous
    4
  • Targeted
    4
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    18 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    cDNA 30
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-13743, MGD-MRK-24444, MGI:1336180, MGI:2138921, MGI:97841
References
more
  • Summaries
    All 112
    Developmental Gene Expression 28
    Diseases 3
    Gene Ontology 18
    Phenotypes 35
  • Earliest
    J:86 Carter TC, et al., Ragged, a semidominant coat texture mutant. J Hered. 1954;45:151-154
  • Latest
    J:235014 Legrand JM, et al., STAT5 Activation in the Dermal Papilla Is Important for Hair Follicle Growth Phase Induction. J Invest Dermatol. 2016 Sep;136(9):1781-91

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
09/27/2016
MGI 6.05
The Jackson Laboratory