SOX18 Gene - SRY-Box Transcription Factor 18
Key regulator of vascular development, lymphangiogenesis, and hair follicle formation; associated with hypotrichosis-lymphedema-telangiectasia syndrome and related disorders.
Gene Information Card
| Symbol | SOX18 |
|---|---|
| Full Name | SRY-Box Transcription Factor 18 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 54345 ncbi.nlm.nih.gov/gene/54345 |
| Ensembl ID | ENSG00000170989 |
| UniProt ID | P35712 |
| OMIM ID | 601618 |
| HGNC ID | 11189 |
| Aliases | HLTS, MGC117282 |
Description
SOX18 is a member of the SOX (SRY-related HMG-box) family of transcription factors. It plays a critical role in embryonic development, particularly in the formation of blood vessels (vasculogenesis), lymphatic vessels (lymphangiogenesis), and hair follicles. SOX18 regulates the expression of key target genes such as PROX1 and VEGFC. Mutations in SOX18 cause autosomal dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) and are implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS) | Loss-of-function mutations in SOX18 impair transcriptional activation of PROX1 and VEGFC, disrupting lymphatic and vascular development. | OMIM #607823; ClinVar; PMID: 12529855 |
| Lymphedema (primary) | SOX18 haploinsufficiency leads to defective lymphangiogenesis, causing peripheral lymphedema. | OMIM #153100; PMID: 12529855 |
| Hereditary Hemorrhagic Telangiectasia (HHT)-like phenotype | SOX18 mutations cause telangiectasias due to abnormal blood vessel remodeling. | OMIM #601618; PMID: 12529855 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Low |
| Lymph Node | 8.7 | Medium |
| Skin | 12.3 | Medium |
| Lung | 4.1 | Low |
| Placenta | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.0 | High expression; key for vascular studies |
| Lymphatic endothelial cells (LEC) | 18.5 | High expression; role in lymphangiogenesis |
| HEK293 | 2.3 | Low expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.343C>T (p.Arg115*) | Nonsense | Rare | Loss-of-function; truncation of HMG domain; causes HLTS |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Disrupts DNA binding; dominant negative effect; HLTS |
| c.410G>A (p.Trp137*) | Nonsense | Rare | Premature stop; loss-of-function; HLTS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg115*, p.Trp137*) lead to truncated protein lacking the transactivation domain, resulting in haploinsufficiency.
Gain of Function (GOF)
Not reported for SOX18 in germline disease; somatic gain-of-function may occur in some cancers (e.g., melanoma) but not well characterized.
Dominant Negative (DN)
Missense mutations in the HMG domain (e.g., p.Gly116Arg) produce a protein that can bind DNA but fails to activate transcription, interfering with wild-type SOX18 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• VEGFC-VEGFR3 signaling pathway (Reactome: R-HSA-194138)
• Lymphatic vessel development (KEGG: hsa05418)
• Transcriptional regulation by SOX proteins (Reactome: R-HSA-5619507)
Protein Summary
SOX18 is a 384-amino acid transcription factor containing a highly conserved HMG-box DNA-binding domain. It forms homodimers or heterodimers with other SOX proteins (e.g., SOX7, SOX17) to regulate target gene expression. The protein is essential for endothelial cell specification during lymphangiogenesis and for hair follicle development. Post-translational modifications include phosphorylation, which modulates its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX18 Knockout HEK293 Cell Line | EDJ-KQ51362 | Human | 54345 | Details Get a Quote |
| SOX18 Knockout HeLa Cell Line | EDJ-KQ56407 | Human | 54345 | Details Get a Quote |
| SOX18 Knockout A-549 Cell Line | EDJ-KQ64900 | Human | 54345 | Details Get a Quote |
| SOX18 Knockout HCT 116 Cell Line | EDJ-KQ73344 | Human | 54345 | Details Get a Quote |
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