SNAI2
entrez
6591
canonical
uniprot
O43623
canonical
ensembl
ENSG00000019549
resolver
ensp
ENSP00000020945
resolver
enst
ENST00000020945
resolver
genesymbol
SNAI2
resolver
genesymbol_syn
SLUG
resolver
genesymbol_syn
SLUGH
resolver
hgnc
HGNC:11094
resolver
uniprot
B2R6P6
resolver
uniprot
Q53FC1
resolver
uniprot_entry
SNAI2_HUMAN
resolver
uniprot_sec
B2R6P6
resolver
uniprot_sec
Q53FC1
resolver
amino_acid_sequence
MPRSFLVKKHFNASKKPNYSELDTHTVIISPYLYESYSMPVIPQPEILSSGAYSPITVWTTAAPFHAQLPNGLSPLSGYSSSLGRVSPPPPSDTSSKDHSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYSTFSGLAKHKQLHCDAQSRKSFSCKYCDKEYVSLGALKMHIRTHTLPCVCKICGKAFSRPWLLQGHIRTHTGEKPFSCPHCNRAFADRSNLRAHLQTHSDVKKYQCKNCSKTFSRMSLLHKHEESGCCVAH
uniprot
proteins
disease_involvement
DISEASE: Waardenburg syndrome 2D (WS2D) [MIM:608890]: 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. {ECO:0000269|PubMed:12444107}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. {ECO:0000269|PubMed:12955764}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250, ECO:0000269|PubMed:10866665, ECO:0000269|PubMed:11912130, ECO:0000269|PubMed:15734731, ECO:0000269|PubMed:16707493, ECO:0000269|PubMed:19756381, ECO:0000269|PubMed:21182836}.
uniprot
proteins
mass_dalton
29986
uniprot
proteins
mutagenesis
MUTAGEN 87; /note="S->A: Increases protein stability. Does not affect repressor activity on E-cadherin/CDH1 promoter."; /evidence="ECO:0000269|PubMed:22727060"; MUTAGEN 92; /note="S->A: Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-96."; /evidence="ECO:0000269|PubMed:22727060"; MUTAGEN 96; /note="S->A: Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-92."; /evidence="ECO:0000269|PubMed:22727060"; MUTAGEN 100; /note="S->A: Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-104."; /evidence="ECO:0000269|PubMed:22727060"; MUTAGEN 104; /note="S->A: Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-100."; /evidence="ECO:0000269|PubMed:22727060"; MUTAGEN 166; /note="K->E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-175."; /evidence="ECO:0000269|PubMed:19386897"; MUTAGEN 175; /note="K->E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-166."; /evidence="ECO:0000269|PubMed:19386897"; MUTAGEN 192; /note="K->E: Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-196."; /evidence="ECO:0000269|PubMed:19386897"; MUTAGEN 196; /note="R->E: Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-192."; /evidence="ECO:0000269|PubMed:19386897"; MUTAGEN 225; /note="R->E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-229."; /evidence="ECO:0000269|PubMed:19386897"; MUTAGEN 229; /note="R->E: Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-225."; /evidence="ECO:0000269|PubMed:19386897
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by GSK3B. Once phosphorylated, it becomes a target for ubiquitination. {ECO:0000269|PubMed:22727060}.; PTM: Ubiquitinated by the SCF(FBXO11) complex; ubiquitination requires previous GSK3B-mediated SNAI2 phosphorylation (PubMed:25827072). {ECO:0000305|PubMed:25827072}.
uniprot
proteins
protein_family
Snail C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10479723
uniprot
proteins
pubmed
10866665
uniprot
proteins
pubmed
11912130
uniprot
proteins
pubmed
12444107
uniprot
proteins
pubmed
12955764
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15734731
uniprot
proteins
pubmed
16707493
uniprot
proteins
pubmed
19386897
uniprot
proteins
pubmed
19756381
uniprot
proteins
pubmed
21182836
uniprot
proteins
pubmed
22727060
uniprot
proteins
pubmed
25827072
uniprot
proteins
pubmed
25893292
uniprot
proteins
pubmed
29910125
uniprot
proteins
pubmed
9721220
uniprot
proteins
sequence_length
268
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25893292, ECO:0000269|PubMed:29910125}. Cytoplasm. Note=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.
uniprot
proteins