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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:181311630-181313433 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.71 cM
  • Mapping Data
    47 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103559
 protein coding gene Chr2:181311629-181313433 (-)
129S1/SvImJ ENSMUSG00200001619
 protein coding gene Chr2:177334430-177336234 (-)
A/J ENSMUSG00195001020
 protein coding gene Chr2:177565224-177567028 (-)
AKR/J ENSMUSG00220000043
 protein coding gene Chr2:175243887-175245691 (-)
BALB/cJ ENSMUSG00180000680
 protein coding gene Chr2:175375395-175377197 (-)
C3H/HeJ ENSMUSG00175004269
 protein coding gene Chr2:176525773-176527577 (-)
C57BL/6NJ ENSMUSG00215002519
 protein coding gene Chr2:175473752-175475556 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024816
 protein coding gene Chr2:171205881-171207686 (-)
CAST/EiJ ENSTCUG00005000465
 protein coding gene Chr2:174824588-174826390 (-)
CBA/J ENSMUSG00210001275
 protein coding gene Chr2:175852221-175854025 (-)
DBA/2J ENSMUSG00185020573
 protein coding gene Chr2:177085233-177087037 (-)
FVB/NJ ENSMUSG00205002013
 protein coding gene Chr2:175903827-175905631 (-)
JF1/MsJ ENSUMUG00000012053
 protein coding gene Chr2:178278857-178280661 (-)
LP/J ENSMUSG00230023363
 protein coding gene Chr2:178985327-178987131 (-)
NOD/ShiLtJ ENSMUSG00190015133
 protein coding gene Chr2:175393860-175395664 (-)
NZO/HlLtJ ENSMUSG00225005839
 protein coding gene Chr2:187067399-187069203 (-)
PWK/PhJ ENSLUMG00010000110
 protein coding gene Chr2:175698608-175700412 (-)
SPRET/EiJ ENSMSPG00010003705
 protein coding gene Chr2:178169670-178171476 (-)
WSB/EiJ ENSIUOG00005000171
 protein coding gene Chr2:175419356-175421160 (-)



Homology
more
  • Human Ortholog
    SOX18, SRY-box transcription factor 18
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SOX18, SRY-box transcription factor 18
  • Synonyms
    HLTRS, HLTS
  • Links
    NCBI Gene ID: 54345
    UniProt: P35713

  • Chr Location
    20q13.33; chr20:64047582-64049639 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SOX18 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 8 alleles in 11 genetic backgrounds
    45 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.
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
    70
  • GO References
    20
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    971
  • Tissues
    301
  • cDNA Data
    33
  • Literature Summary
    53
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20672 NCBI Gene Model | MGI Sequence Detail 1804 C57BL/6J ±  kb
    transcript NM_009236 RefSeq | MGI Sequence Detail 1619 ZRU/MplStud  
    polypeptide P43680 UniProt | EBI | MGI Sequence Detail 377 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 34
      Primer pair 8
      Other 5
      Antibodies 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13743, MGD-MRK-24444, MGI:1336180, MGI:2138921, MGI:97841
    References
    more
    • Summaries
      All 154
      Developmental Gene Expression 53
      Gene Ontology 20
      Phenotypes 45
    • Earliest
      J:86 Carter TC, et al., Ragged, a semidominant coat texture mutant. J Hered. 1954;45(4):151-154
    • Latest
      J:375094 Murillo-Rincon AP, et al., Positional programs in early murine facial development and their role in human facial shape variability. Nat Commun. 2025 Nov 18;16(1):10112
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory