SNAI2 gene

Last updated on: 15.08.2024

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Definition
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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 information
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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 picture
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Diseases associated with SNAI2 include Waardenburg syndrome, type 2D (see Klein-Waardenburg syndrome below).

Literature
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  1. Otręba M et al. (2013) rola genów PAX3, SOX10, MITF, SNAI2, KIT, EDN3 i EDNRB Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes. Postepy Hig Med Dosw (Online) 67:1109-1118.

  2. Pingault V et al. (2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391-406.
  3. Saleem MD et al. (2019) Biology of human melanocyte development, piebaldism, and Waardenburg syndrome. Pediatr Dermatol 36:72-84.

  4. Zhou W et al. (2019) Molecular regulation of Snai2 in development and disease. J Cell Sci 132:jcs235127.

Incoming links (1)

Piebaldism;

Last updated on: 15.08.2024