SNAI2 Chromosome 8
Snail family transcriptional repressor 2
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|SNAG transcriptional repressors"
Locus Type
gene with protein product
Location
8q11.21
Ensembl
ENSG00000019549
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372039867 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79619080 | Health Risk | Conflicting classifications of pathogenicity | — |