SNAI2

This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]

Snail Family Transcriptional Repressor 2

Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity).
Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.

Biological Process aortic valve morphogenesisManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process cartilage morphogenesisIEA:Ensembl
Biological Process cell migration involved in endocardial cushion formationISS:BHF-UCL
Biological Process cellular response to epidermal growth factor stimulusManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process cellular response to ionizing radiationIEA:Ensembl
Biological Process desmosome disassemblyManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process endothelial cell migrationIEA:Ensembl
Biological Process epithelial to mesenchymal transitionManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process epithelial to mesenchymal transition involved in endocardial cushion formationISS:BHF-UCL
Biological Process epithelium developmentBy SimilarityISS:BHF-UCL
Biological Process hematopoietic stem cell proliferationIEA:Ensembl
Biological Process myeloid cell apoptotic processIEA:Ensembl
Biological Process negative regulation of anoikisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of cell adhesion involved in substrate-bound cell migrationIEA:Ensembl
Biological Process negative regulation of cell adhesion mediated by integrinManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of chondrocyte differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of DNA damage response, signal transduction by p53 class mediatorManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of extrinsic apoptotic signaling pathway in absence of ligandBy SimilarityISS:BHF-UCL
Biological Process negative regulation of hematopoietic stem cell proliferationIEA:Ensembl
Biological Process negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of keratinocyte proliferationManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of myeloid cell apoptotic processIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of vitamin D biosynthetic processManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of vitamin D receptor signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process neural crest cell developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process Notch signaling involved in heart developmentManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process Notch signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process osteoblast differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process pigmentationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of cell migrationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of fat cell differentiationIEA:Ensembl
Biological Process positive regulation of histone acetylationIEA:Ensembl
Biological Process regulation of bicellular tight junction assemblyManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of branching involved in salivary gland morphogenesisIEA:Ensembl
Biological Process regulation of chemokine productionManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process roof of mouth developmentIEA:Ensembl
Biological Process sensory perception of soundManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process white fat cell differentiationIEA:Ensembl

Nucleus
Cytoplasm
Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions.

Waardenburg syndrome 2D (WS2D):
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Piebald trait (PBT):
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation.