SNAI2 (Snail Family Transcriptional Repressor 2)
Key regulator of epithelial-mesenchymal transition and neural crest development
Gene Information Card
| Symbol | SNAI2 |
|---|---|
| Full Name | Snail Family Transcriptional Repressor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.21 |
| NCBI Gene ID | 6591 ncbi.nlm.nih.gov/gene/6591 |
| Ensembl ID | ENSG00000019549 |
| UniProt ID | O43623 |
| OMIM ID | 602150 |
| HGNC ID | 11094 |
| Aliases | SLUG, SNAIL2, SLUGH1, WS2D, SLUGH |
Description
SNAI2 (Snail Family Transcriptional Repressor 2), also known as SLUG, encodes a zinc-finger transcription factor that represses E-cadherin expression and induces epithelial-mesenchymal transition (EMT). It plays critical roles in embryonic development, particularly neural crest cell migration and mesoderm formation, and is implicated in cancer metastasis, wound healing, and stem cell biology. SNAI2 is a direct target of the Wnt and TGF-β signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Waardenburg syndrome type 2D | Loss-of-function mutations in SNAI2 impair neural crest cell development, leading to pigmentation and hearing defects. | OMIM #608890 |
| Breast cancer | Overexpression of SNAI2 promotes EMT, invasion, and metastasis by repressing CDH1 (E-cadherin). | COSMIC; NCBI Gene |
| Melanoma | SNAI2 upregulation correlates with poor prognosis and increased metastatic potential. | COSMIC; PubMed studies |
| Colorectal cancer | SNAI2 expression is associated with tumor progression and EMT activation. | COSMIC; ClinVar |
| Gastric cancer | SNAI2 overexpression linked to lymph node metastasis and reduced survival. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 12.5 | Medium |
| Skin | 10.8 | Medium |
| Breast | 8.2 | Medium |
| Lung | 6.7 | Low |
| Colon | 5.9 | Low |
| Stomach | 5.4 | Low |
| Kidney | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression; associated with EMT |
| A549 (lung cancer) | 12.1 | Moderate expression |
| HeLa (cervical cancer) | 9.8 | Moderate expression |
| HCT116 (colorectal cancer) | 8.5 | Moderate expression |
| K562 (leukemia) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.103C>T (p.Arg35*) | Nonsense | Rare | Premature stop; loss of function |
| c.266_267del (p.Glu89fs) | Frameshift | Rare | Frameshift; loss of function |
| c.511C>T (p.Arg171Trp) | Missense | Rare | Unknown significance; reported in Waardenburg syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in SNAI2 lead to truncated or absent protein, impairing neural crest development and causing Waardenburg syndrome type 2D.
Gain of Function (GOF)
Overexpression or amplification of SNAI2 (not specific point mutations) is observed in cancers, promoting EMT and metastasis.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for SNAI2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-mesenchymal transition (EMT) pathway (Reactome: R-HSA-6805567)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Wnt signaling pathway (KEGG: hsa04310)
• Neural crest differentiation (Reactome: R-HSA-5617472)
Protein Summary
The SNAI2 protein (SLUG) is a 268-amino acid zinc-finger transcription factor containing an N-terminal SNAG domain and four C-terminal C2H2 zinc fingers. It binds to E-box sequences (5'-CANNTG-3') in target gene promoters, primarily repressing CDH1 (E-cadherin) to induce EMT. SNAI2 also regulates apoptosis, cell cycle, and stem cell maintenance. Its expression is tightly controlled during development and dysregulated in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAI2 Knockout HEK293 Cell Line | EDJ-KQ1407 | Human | 6591 | Details Get a Quote |
| SNAI2 Knockout A-549 Cell Line | EDJ-KQ20944 | Human | 6591 | Details Get a Quote |
| SNAI2 Knockout HeLa Cell Line | EDJ-KQ20945 | Human | 6591 | Details Get a Quote |
| SNAI2 Knockout HCT 116 Cell Line | EDJ-KQ71482 | Human | 6591 | Details Get a Quote |
