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. Involved in artery development; lymphangiogenesis; and vasculogenesis. Predicted to localize to nucleus and transcription regulator complex. 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
- Comparative Information
-
- All Expression Data
- 19 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
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 |
Interactions and Pathways
No data available
Plasmids
No data available