DefinitionThis section has been translated automatically.
The SNAI2 gene (Snail stands for "Family Transcriptional Repressor 2") is a protein-coding gene localized on chromosome 8q11.21.The gene is a protein encoding gene.
General informationThis section has been translated automatically.
The SNAI2 gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors.
The encoded SNAI2- protein functions as a transcriptional repressor that binds to E-box motifs and probably also represses E-cadherin transcription in breast carcinomas.
SNAI2- protein has an anti-apoptotic effect.
It acts as a transcriptional repressor that modulates both activator-dependent and basal transcription.
Furthermore, the protein is involved in neural crest cell formation and migration.
It Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein occludin (OCLN) and subsequent oncogenic transformation of epithelial cells.
In epidermal keratinocytes, it binds to the E-box in the ITGA3 promoter and represses its transcription.
SNAI2- protein is involved in regulating the expression of ITGB1 and ITGB4 as well as cell adhesion and proliferation in epidermal keratinocytes.
Represses transcription of E-cadherin/CDH1 via E-box elements and participates in osteoblast maturation.
Clinical pictureThis section has been translated automatically.
Diseases associated with SNAI2 include Waardenburg syndrome, type 2D (see Klein-Waardenburg syndrome below).
LiteratureThis section has been translated automatically.
- Pingault V et al. (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391-406.
Saleem MD et al (2019) Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatr Dermatol 36:72-84.
Zhou W et al (2019) Molecular regulation of Snai2 in development and disease. J Cell Sci 132:jcs235127.
