Gene

sox18

ID
ZDB-GENE-080725-1
Name
SRY-box transcription factor 18
Symbol
sox18 Nomenclature History
Previous Names
  • si:ch211-235f6.2 (1)
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in artery development; lymphangiogenesis; and vasculogenesis. Predicted to localize to nuclear chromatin. Is expressed in several structures, including angioblastic mesenchymal cell; cardiovascular system; immature eye; intermediate cell mass of mesoderm; and mesoderm. 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).
Genome Resources
Note
None
Expression
All Expression Data
18 figures from 11 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sox18 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypotrichosis-lymphedema-telangiectasia syndrome Alliance Hypotrichosis-lymphedema-telangiectasia syndrome 607823
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Alliance Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Associated With sox18 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR009071 High mobility group box domain
Domain IPR021934 Sox, C-terminal
Domain IPR033392 Sox 7/17/18, central domain
Homologous_superfamily IPR036910 High mobility group box domain superfamily
Domain Details Per Protein
Protein Length High mobility group box domain High mobility group box domain superfamily Sox 7/17/18, central domain Sox, C-terminal
UniProtKB:E7F9I2 431
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations