SNAI2 (SNAIL HOMOLOG 2)
2004-04-01 Manuel Sánchez-Martín , Ines González-Herrero , Isidro Sánchez-García AffiliationLaboratorio 13, Instituto de Biologia Molecular y Celular del Cancer (IBMCC), Centro de Investigacion del Cancer, Campus Unamuno, 37.007-Salamanca, Spain
DNA/RNA
Description
SNAI2 is a neurogenic transcription factor belonging to the SNAIL family implicated in the epithelial-mesenchymal transition and cell survival, in important morphogenetic processes during embryo development and in tumor metastasis. The gene has 3 exons (243bp, 546bp,1299bp).
Transcription
Transcript length: 2.2Kb.
Proteins
Description
SNAI2 is a zinc-finger transcription factor. Translation length: 268 residues (79bp 1st exon, 546bp 2nd exon, 181bp 3rd exon).
Zinc-finger information : Type: C2H2 ; Number of domains: 5.1st(from residue 128 to 150)
2nd(from residue 159 to 181)
3rd(from residue 185 to 207)
4th(from residue 213 to 235)
5th(from residue 241 to 264)
Zinc-finger information : Type: C2H2 ; Number of domains: 5.
Expression
Placenta, adult heart, pancreas, liver, kidney and skeletal muscle.
Localisation
Nuclear (probable).
Function
Transcriptional repressor implicated in the epithelial-mesenchymal transition and cell survival.
Homology
The human SLUG protein is 95, 93, and 88% homologous to mouse, chicken, and Xenopus slug, respectively, but it shows only 47% homology to mouse Snail. The zinc finger region is 100% identical between human and mouse Slug.
Implicated in
Note
SNAI2 is a vertebrate gene encoding a zinc finger protein of the Snail family implicated in the epithelial-mesenchymal transition and cell survival. It was identified in the neural crest and in mesodermal cells emigrating from the primitive streak in chick embryos. It is involved in chick limb development and has conserved and divergent roles in the chick and mouse embryo. Human SNAI2 maps to the long arm of chromosome 8 (8q11.21), contains 3 exons and codes for a protein of 268bp (29KDa) with 5 zinc finger regions. This gene has been identified as downstream target of E2A-HLF oncoprotein and its expression is strongly correlated with loss of E-cadherin. SNAI2 contributes to the function of the stem cell factor c-kit signaling pathway and mediates the radioresistance biological function of the SCF/kit. The alterations of this gene have been associated to different human syndromes.
Disease
Missense mutation has been identified in patients with neural tube defects. Deletions of the SNAI2 gene results in human piebaldism, a cancer prone disease, and has been detected in patients with Waardenburg disease. Duplication of SNAI2 gene is implicated in a rare congenital heart disease (data submitted).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9721220 | 1998 | Human SLUG gene organization, expression, and chromosome map location on 8q. | Cohen ME et al |
| 11912130 | 2002 | The SLUG zinc-finger protein represses E-cadherin in breast cancer. | Hajra KM et al |
| 12398892 | 2002 | Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo. | Inoue A et al |
| 10518215 | 1999 | SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein. | Inukai T et al |
| 7513443 | 1994 | Control of cell behavior during vertebrate development by Slug, a zinc finger gene. | Nieto MA et al |
| 12833143 | 2003 | The radioresistance biological function of the SCF/kit signaling pathway is mediated by the zinc-finger transcription factor Slug. | Pérez-Losada J et al |
| 9165129 | 1997 | Slug, a zinc finger gene previously implicated in the early patterning of the mesoderm and the neural crest, is also involved in chick limb development. | Ros MA et al |
| 12955764 | 2003 | Deletion of the SLUG (SNAI2) gene results in human piebaldism. | Sánchez-Martín M et al |
| 9671584 | 1998 | Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo. | Sefton M et al |
| 10479723 | 1999 | Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region. | Stegmann K et al |
Other Information
Locus ID:
NCBI: 6591
MIM: 602150
HGNC: 11094
Ensembl: ENSG00000019549
Variants:
dbSNP: 6591
ClinVar: 6591
TCGA: ENSG00000019549
COSMIC: SNAI2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000019549 | ENST00000020945 | O43623 |
| ENSG00000019549 | ENST00000396822 | A0A1X7SC17 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Adherens junction | KEGG | ko04520 |
| Adherens junction | KEGG | hsa04520 |
| Hippo signaling pathway | KEGG | hsa04390 |
| Hippo signaling pathway | KEGG | ko04390 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37884850 | 2024 | SNAI2/FTH1P3/miR-218-5p Positive Feedback Loop Promotes Colorectal Cancer Metastasis. | 1 |
| 37921085 | 2024 | Hsa_circ_0001707 regulates endothelial-mesenchymal transition in esophageal squamous cell carcinoma via miR-203a-3p/Snail2 pathway. | 0 |
| 38702792 | 2024 | The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis. | 0 |
| 38835117 | 2024 | T-plastin contributes to epithelial-mesenchymal transition in human lung cancer cells through FAK/AKT/Slug axis signaling pathway. | 0 |
| 37884850 | 2024 | SNAI2/FTH1P3/miR-218-5p Positive Feedback Loop Promotes Colorectal Cancer Metastasis. | 1 |
| 37921085 | 2024 | Hsa_circ_0001707 regulates endothelial-mesenchymal transition in esophageal squamous cell carcinoma via miR-203a-3p/Snail2 pathway. | 0 |
| 38702792 | 2024 | The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis. | 0 |
| 38835117 | 2024 | T-plastin contributes to epithelial-mesenchymal transition in human lung cancer cells through FAK/AKT/Slug axis signaling pathway. | 0 |
| 35894087 | 2023 | SNAI2 promotes the malignant transformation of oral leukoplakia by modulating p-EMT. | 2 |
| 36162055 | 2023 | Sensitization to Ionizing Radiation by MEK Inhibition Is Dependent on SNAI2 in Fusion-Negative Rhabdomyosarcoma. | 0 |
| 36375842 | 2023 | LACTB exerts tumor suppressor properties in epithelial ovarian cancer through regulation of Slug. | 0 |
| 36674577 | 2023 | SNAI2 Attenuated the Stem-like Phenotype by Reducing the Expansion of EPCAM(high) Cells in Cervical Cancer Cells. | 1 |
| 36939239 | 2023 | lncRNA AC005224.4/miR-140-3p/SNAI2 regulating axis facilitates the invasion and metastasis of ovarian cancer through epithelial-mesenchymal transition. | 3 |
| 37117180 | 2023 | Dependency of NELF-E-SLUG-KAT2B epigenetic axis in breast cancer carcinogenesis. | 0 |
| 37251370 | 2023 | Comprehensively prognostic and immunological analysis of snail family transcriptional repressor 2 in pan-cancer and identification in pancreatic carcinoma. | 1 |
Citation
Manuel Sánchez-Martín ; Ines González-Herrero ; Isidro Sánchez-García
SNAI2 (SNAIL HOMOLOG 2)
Atlas Genet Cytogenet Oncol Haematol. 2004-04-01
Online version: http://atlasgeneticsoncology.org/gene/453/parp1-(poly(adp-ribose)-polymerase-1)
