InnateDB Protein
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IDBP-21212.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SNAI2
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Protein Name
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snail homolog 2 (Drosophila)
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Synonyms
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SLUG; SLUGH1; SNAIL2; WS2D;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000020945
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InnateDB Gene
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IDBG-21210 (SNAI2)
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Protein Structure
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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:0000269PubMed:10866665, ECO:0000269PubMed:11912130, ECO:0000269PubMed:15734731, ECO:0000269PubMed:16707493, ECO:0000269PubMed:19756381, ECO:0000269PubMed:21182836}.
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Subcellular Localization |
Nucleus. 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.
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Disease Associations |
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:0000269PubMed:12444107}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12955764}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level). {ECO:0000269PubMed:10866665, ECO:0000269PubMed:16707493, ECO:0000269PubMed:19756381, ECO:0000269PubMed:21182836}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
22
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
Accession |
GO Term |
GO:0001078
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
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GO:0043565
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sequence-specific DNA binding
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GO:0046872
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metal ion binding
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Biological Process |
GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0001649
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osteoblast differentiation
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GO:0001837
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epithelial to mesenchymal transition
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GO:0003198
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epithelial to mesenchymal transition involved in endocardial cushion formation
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GO:0003273
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cell migration involved in endocardial cushion formation
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GO:0007219
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Notch signaling pathway
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GO:0007605
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sensory perception of sound
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GO:0010839
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negative regulation of keratinocyte proliferation
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GO:0010957
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negative regulation of vitamin D biosynthetic process
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GO:0014032
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neural crest cell development
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GO:0030335
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positive regulation of cell migration
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GO:0032331
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negative regulation of chondrocyte differentiation
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GO:0032642
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regulation of chemokine production
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GO:0033629
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negative regulation of cell adhesion mediated by integrin
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GO:0035414
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negative regulation of catenin import into nucleus
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GO:0035921
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desmosome disassembly
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GO:0043473
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pigmentation
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GO:0043518
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negative regulation of DNA damage response, signal transduction by p53 class mediator
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GO:0045667
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regulation of osteoblast differentiation
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GO:0060070
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canonical Wnt signaling pathway
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GO:0060429
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epithelium development
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GO:0070563
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negative regulation of vitamin D receptor signaling pathway
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GO:0071364
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cellular response to epidermal growth factor stimulus
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GO:0090090
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negative regulation of canonical Wnt signaling pathway
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GO:1900387
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negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter
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GO:1902230
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negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
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GO:2000810
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regulation of tight junction assembly
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GO:2000811
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negative regulation of anoikis
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GO:2001240
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negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
O43623
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PhosphoSite |
PhosphoSite-O43623
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6591
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UniGene |
Hs.360174
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RefSeq |
NP_003059
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HUGO |
HGNC:11094
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OMIM |
602150
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CCDS |
CCDS6146
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HPRD |
03689
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IMGT |
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EMBL |
AF042001
AF084243
AK223368
AK312661
BC014890
BC015895
CH471068
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GenPept |
AAC34288
AAD55240
AAH14890
AAH15895
BAD97088
BAG35543
EAW86700
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