SNAI2

Chr 8q11.21

snail family transcriptional repressor 2

Aliases:: SLUGH1, SNAIL2, SLUGH
MANE:: ENST00000020945.4

OMIM: 602150 ↗NCBI: 6591 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SNAI2 · O43623

v62025-08-01

Predicted Aligned Error matrix for SNAI2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

268 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)40%
Low(50–70)14%
Very low(< 50)38%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

piebaldism
0.52
Waardenburg syndrome type 2
0.43
Waardenburg syndrome
0.42
retinal degeneration
0.31
alcohol drinking
0.19
Waardenburg syndrome type 1
0.19
placental abruption
0.14
breast carcinoma
0.12
neoplasm
0.12
hepatocellular carcinoma
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein SNAI2

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